1311:
region that is inherited together in a block. The correlation between C9orf72 haplotypes and GGGGCC repeat length was examined in
Caucasians. The repeat length is largely constant in all haplotypes harboring up to 5 repeat units, but not in haplotype J, which typically harbors 6 repeats. The highest level of GGGGCC repeat length diversity is observed in haplotype R, which most frequently harbors 8 repeats. The repeat length becomes more unstable with increasing length. The shortest documented GGGGCC repeat length change in subsequent generations was observed in a father and his daughter, who had 11 and 12 repeats, respectively. While all Caucasian C9orf72 patients are derived from a common founder that carried the R haplotype, it is unclear how many families in history experienced an expansion of repeat numbers from a normal length to a disease-associated length. In the Asian population, some C9orf72 ALS and FTD patients carry an alternative haplotype that is not related to the R haplotype.
244:
1289:
Slow diagnosis is also common for FTD, which can often take up to a year with many patients initially misdiagnosed with another condition. Testing for a specific gene that is known to cause the diseases would help with faster diagnoses. Possibly most importantly, the identification of this hexanucleotide repeat expansion is an extremely promising avenue for possible future therapies of both familial FTD and familial ALS, once the mechanism and function of the C9ORF72 protein is better comprehended. Furthermore, present research is being done to see if there is a correlation between
221:
143:
118:
1306:
onset up to a decade earlier with each successive generation after the carrier. The buildup of a repeat expansion with each generation is typically thought to occur because the DNA is unstable and therefore accumulates exponentially every time the gene is copied. No genetic evidence for this has yet been demonstrated for this mutation. There is also a demographic factor that should be considered in genetic predisposition, as some cohorts have found that there might be a
250:
149:
1528:. The C9orf72–SMCR8 complex suppressed the primary cilium in multiple tissues from mice, including but not limited to the brain, kidney, and spleen. Importantly, cells with C9orf72 or SMCR8 knocked out were more sensitive to hedgehog signaling, shedding light on a potential pathogenic mechanism related to the loss of C9orf72 function.
1310:
for the C9orf72 mutation, which might have led to higher frequencies of the mutation in specific populations than others. Specifically this founder has been linked to
Northern Europeans populations, namely Finland. Haplotype is a specific combination of multiple polymorphic sites along a chromosomal
1544:
to further understand the exact mechanisms involved in the cause of the diseases by this mutation. A clearer understanding of the exact pathogenic mechanism will aid in a more focused drug therapies. Possible drug targets currently include the repeat expansion itself as well as increasing levels of
1288:
is specifically linked to familial ALS, which affects about 10% of ALS patients. Traditionally, familial and sporadic cases of ALS have been clinically indistinguishable, which has made diagnosis difficult. The identification of this gene will therefore help in the future diagnosis of familial ALS.
1253:
repeat expansion in FTD and ALS, which are both diseases without cures that have affected millions of people. Frontotemporal dementia is the second most common form of early-onset dementia after
Alzheimer's disease in people under the age of 65. Amyotrophic lateral sclerosis is also devastating; it
1215:
is a hexanucleotide repeat expansion of the six letter string of nucleotides GGGGCC. In approximately half of all alleles, the hexanucleotide repeat is repeated twice, and in over 98% of the alleles its length is less than 17 repeats, but in people with the mutation, the repeat number is between 30
1183:
In humans the cytogenetic location was discovered in 2006 on 9p21.2. The gene was discovered in 2011 and is highly conserved in primates, other mammals and across different species: For example, it is nearly identical to humans in chimpanzee and rhesus macaque (99.58%), mouse (98.13%), rat (97.71%)
1305:
may exist for this mutation. However, only 1 in 4 families exhibited significant anticipation in this study (n=63) It has been proposed that the amount of the repeat expansion increases with each successive generation, possibly causing the disease to be more severe in the next generation, showing
1323:. Patients are considered eligible if the mother or father has had FTD and/or another family member has had ALS. There are also population and location risk factors in determining eligibility. Some studies have found that the mutation has a higher frequency in certain cohorts. Athena Diagnostics (
1335:
C9ORF72 is predicted to be a full-length homologue of DENN proteins (where DENN stands for "differentially expressed in normal and neoplastic cells"). These proteins have a conserved DENN module consisting of an N-terminal longin domain, followed by the central DENN and C-terminal alpha-helical
1220:
mutation causes FTD and/or ALS. One theory is that accumulation of RNA that carry the expanded repeat in the nucleus and cytoplasm becomes toxic due to sequestration of RNA binding proteins. The other is that the lack of the C9ORF72 protein due to interference of the expanded repeat to its
1545:
C9ORF72. Blocking the toxic gain of RNA foci to prevent RNA sequestration might be helpful as well as making up for the lack of C9ORF72. Either of these targets as well as a combination of them might be promising future targets in minimizing the effects of the
1351:. Studies have provided some evidence to confirm this: C9ORF72 was found to regulate endosomal trafficking and autophagy in neuronal cells and primary neurons. This suggested that certain aspects of the ALS and FTD disease pathology might result from
1268:
While different mutations of various genes have been linked to different phenotypes of FTD in the past, C9orf72 specifically has been linked to behavioral variant FTD. Certain pathology in FTD caused by the C9orf72 mutation can also include:
1327:) announced in Spring 2012 the first clinically available testing service for detecting the hexanucleotide repeat expansion in the C9orf72 gene. Genetic counseling is recommended for the patients before a genetic test is ordered.
1237:, these dipeptides aggregating to contribute to overall toxicity of the mutation. The GGGGCC repeat expansion in C9orf72 is also believed to compromise nucleocytoplasmic transport through several possible mechanisms.
257:
156:
1187:
Sequence analysis suggests that the C9ORF72 protein emerged early in eukaryotic evolution, and whereas most eukaryotes usually possess a single copy of the gene encoding the C9ORF72 protein, the eukaryotes
1184:
and rabbit (98.54%), and
Xenopus (83.96%), as well as zebrafish (75.97%). However, for the nematode Caenorhabditis elegans there is almost no correlation (14.71%) and there is none with Drosophila.
1229:
gene, containing expanded GGGGCC repeats, is translated through a non-ATG initiated mechanism, which is the same mechanism as other repeat disorders. This hexanucleotide variant of a
2464:"Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis"
1257:
C9orf72 mutation is present in approximately 40% of familial ALS and 8–10% of sporadic ALS. It is currently the most common demonstrated mutation related to ALS—far more common than
1524:
chromosome region 8) complex suppresses primary cilium growth as a RAB8A GAP (GTPase activating protein), establishing a link between C9orf72 function and the primary cilium and
1319:
Since this mutation has been found to be the most common mutation identified in familial FTD and/or ALS, it is considered one of if not the most dependable candidates for
1200:
possess multiple copies, suggestive of independent lineage-specific expansions in these species. The family is lost in most fungi (except
Rhizopus) and plants.
790:
1540:
mutation holds great promise for future therapies for familial FTD and/or ALS to be developed. Currently, there is focus on more research to be done on
809:
79:
1249:
mutation is the first mutation found to be a link between familial FTD and ALS. Numerous published studies have confirmed the commonality of the
1651:
1669:
1254:
is characterized by motor neuron degeneration that eventually causes respiratory failure with a median survival of three years after onset.
2868:
2570:"Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72"
3571:
2516:"Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat"
2768:"Characterization of C9orf72 haplotypes to evaluate the effects of normal and pathological variations on its expression and splicing"
1033:
2619:"Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features"
1918:"Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease"
1040:
1426:
1422:
1415:
1411:
1391:
1375:
1371:
3577:
1634:
3599:
2125:"Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion"
1613:
2668:"Dysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseases"
1340:
3145:"C9orf72 associates with inactive Rag GTPases and regulates mTORC1-mediated autophagosomal and lysosomal biogenesis"
243:
1976:"The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs"
1497:
2985:"C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking"
1686:
1638:
1617:
1505:
1147:
terminals. Disease-causing mutations in the gene were first discovered by two independent research teams, led by
220:
3245:"C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor"
1175:(ALS). It is the most common mutation identified that is associated with familial FTD and/or ALS in Caucasians.
2231:"Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS"
854:
1700:"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS"
1167:
are significant because it is the first pathogenic mechanism identified to be a genetic link between familial
2568:
Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, et al. (March 2012).
1585:
1481:
1230:
1172:
1160:
50:, chromosome 9 open reading frame 72, ALSFTD, FTDALS, FTDALS1, DENNL72, C9orf72-SMCR8 complex subunit, DENND9
835:
3355:"The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis"
1698:
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. (October 2011).
142:
117:
59:
256:
155:
3453:
Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, et al. (March 2012).
1339:
Given the molecular role of known DENN modules, the C9ORF72-like proteins were predicted to function as
249:
148:
2229:
Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, et al. (February 2013).
1525:
3455:"Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics"
2414:
Ratnavalli E, Brayne C, Dawson K, Hodges JR (June 2002). "The prevalence of frontotemporal dementia".
1445:
1434:
46:
3194:"C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases"
2817:
Sieben A, Van
Langenhove T, Engelborghs S, Martin JJ, Boon P, Cras P, et al. (September 2012).
1747:
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. (October 2011).
1359:, which adds to neuronal damage from RNA-mediated and dipeptide toxicities by reducing function of
1012:
983:
953:
928:
67:
1485:
1168:
3519:
Donnelly CJ, Zhang PW, Pham JT, Haeusler AR, Heusler AR, Mistry NA, et al. (October 2013).
2174:"The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS"
1016:
991:
987:
957:
932:
924:
3505:
2983:
Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V, et al. (July 2014).
2717:
Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, et al. (January 2014).
2025:"C9ORF72, the new gene on the block, causes C9FTD/ALS: new insights provided by neuropathology"
1521:
2865:
2327:
Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee KH, et al. (September 2015).
1749:"A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD"
1196:
87:
2514:
Friedland RP, Shah JJ, Farrer LA, Vardarajan B, Rebolledo-Mendez JD, Mok K, Hardy J (2012).
1504:
with C9orf72 mutations were found to activate the DNA damage response (DDR) as indicated by
3407:
3307:
3045:
2340:
2185:
2123:
Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, et al. (April 2012).
1302:
131:
3032:
O'Rourke JG, Bogdanik L, Yáñez A, Lall D, Wolf AJ, Muhammad AK, et al. (March 2016).
2617:
Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, et al. (March 2012).
1437:(GAP). This activity is proposed for Rag GTPases, paralleling the Rag-GAP activity of the
8:
3583:
3296:"Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a"
1796:
Babić Leko M, Župunski V, Kirincich J, Smilović D, Hortobágyi T, Hof PR, Šimić G (2019).
3521:"RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention"
3430:
3411:
3395:
3311:
3049:
2719:"C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies"
2391:. In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.).
2344:
2189:
3545:
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3295:
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3193:
3169:
3144:
3120:
3095:
3066:
3033:
3009:
2984:
2960:
2935:
2911:
2887:"The HHpred interactive server for protein homology detection and structure prediction"
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91:
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Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, et al. (June 2012).
2172:
Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, et al. (March 2013).
1398:
Although the GTPase involved on lysosomes is not yet identified, it might feasibly be
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3396:"ALS-linked C9orf72–SMCR8 complex is a negative regulator of primary ciliogenesis"
3536:
3210:
2872:
2784:
2734:
2246:
1764:
1715:
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1674:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1656:
National Center for
Biotechnology Information, U.S. National Library of Medicine
3400:
Proceedings of the
National Academy of Sciences of the United States of America
3300:
Proceedings of the
National Academy of Sciences of the United States of America
3094:
Amick J, Tharkeshwar AK, Amaya C, Ferguson SM (September 2018). Barr FA (ed.).
2074:"Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion"
1387:
1336:
d-DENN domains. This led to DENNL72 being suggested as a new name for C9orf72.
1307:
1203:
The molecular location on chromosome 9 is base pairs 27,546,546 to 27,573,866.
412:
2936:"Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors"
2834:
2295:
2040:
1868:
3593:
2532:
2140:
1934:
1877:
514:
3420:
3394:
Tang D, Zheng K, Zhu J, Jin X, Bao H, Jiang L, et al. (December 2023).
3320:
3111:
3057:
2934:
Yoshimura S, Gerondopoulos A, Linford A, Rigden DJ, Barr FA (October 2010).
2329:"GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport"
2198:
2173:
472:
350:
3554:
3488:
3470:
3439:
3380:
3339:
3280:
3229:
3178:
3129:
3075:
3034:"C9orf72 is required for proper macrophage and microglial function in mice"
3018:
2969:
2920:
2852:
2803:
2752:
2703:
2652:
2634:
2603:
2585:
2551:
2497:
2435:
2427:
2400:
2389:"C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia"
2370:
2313:
2264:
2207:
2158:
2109:
2058:
2009:
1953:
1895:
1833:
1814:
1782:
1733:
1687:
C9orf72 chromosome 9 open reading frame 72 [Homo sapiens] - Gene - NCBI
1501:
1344:
1118:
329:
108:
3192:
Ji YJ, Ugolino J, Zhang T, Lu J, Kim D, Wang J (April 2020). Kao A (ed.).
2951:
2684:
2386:
1080:
3371:
3354:
3143:
Wang M, Wang H, Tao Z, Xia Q, Hao Z, Prehn JH, et al. (April 2020).
3096:"WDR41 supports lysosomal response to changes in amino acid availability"
3000:
2902:
2567:
2479:
1152:
1144:
899:
880:
2352:
1508:
of DDR markers. If the DDR is insufficient to repair these DNA damages,
1075:
3294:
Tang D, Sheng J, Xu L, Zhan X, Liu J, Jiang H, et al. (May 2020).
3261:
3160:
1567:
1438:
1379:
1364:
228:
125:
75:
2819:"The genetics and neuropathology of frontotemporal lobar degeneration"
2816:
2090:
1509:
1489:
1360:
1216:
and thousands. There are three major theories about the way that the
1190:
1136:
1125:
754:
295:
282:
194:
181:
83:
1974:
Levine TP, Daniels RD, Gatta AT, Wong LH, Hayes MJ (February 2013).
1697:
2933:
1795:
1473:
1395:
1064:
2766:
Ben-Dor I, Pacut C, Nevo Y, Feldman EL, et al. (March 2021).
2387:
Cruts M, Engelborghs S, van der Zee J, Van Broeckhoven C (1993).
1457:
1293:
and other neurological diseases, including Huntington's disease.
1140:
1100:
866:
821:
739:
735:
1746:
63:
1573:
1561:
1493:
1453:
1407:
1383:
1279:
1273:
1262:
1048:
776:
1225:) causes the diseases. Additionally, RNA transcribed from the
3093:
3031:
2982:
2513:
1449:
1441:
1403:
1399:
2716:
2413:
2280:"C9orf72-mediated ALS and FTD: multiple pathways to disease"
1163:, and were first reported in October 2011. The mutations in
3353:
Farg MA, Konopka A, Soo KY, Ito D, Atkin JD (August 2017).
2326:
1444:
complex, which it resembles. In addition, the complex is a
1258:
1104:
3452:
2228:
1135:
The protein is found in many regions of the brain, in the
3518:
2616:
1515:
319:
2765:
1852:"C9ORF72: What It Is, What It Does, and Why It Matters"
3242:
2461:
1973:
1421:
As well as activating GTPases (GEF), the same C9ORF72-
3243:
Iyer S, Subramanian V, Acharya KR (17 October 2018).
2122:
1849:
1330:
484:
2171:
1531:
2395:. Seattle (WA): University of Washington, Seattle.
2884:
2129:Journal of Neurology, Neurosurgery, and Psychiatry
2071:
1915:
1630:
1628:
1626:
1609:
1607:
1605:
3352:
1355:of C9ORF72, leading to a defect in intracellular
1128:27,546,546 to base pair 27,573,866 (GRCh38). Its
266:
165:
3591:
3191:
3393:
3293:
1850:Smeyers J, Banchi EG, Latouche M (5 May 2021).
1623:
1602:
3500:
3498:
3142:
2665:
2277:
1635:GRCm38: Ensembl release 89: ENSMUSG00000028300
695:negative regulation of protein phosphorylation
2382:
2380:
1520:A 2023 PNAS paper showed that C9orf72–SMCR8 (
3512:
3446:
3346:
2759:
2710:
2659:
2610:
2509:
2507:
2116:
2065:
3495:
2885:Söding J, Biegert A, Lupas AN (July 2005).
1614:GRCh38: Ensembl release 89: ENSG00000147894
1512:of the motor neurons is the likely result.
1429:complex is proposed to inactivate GTPases,
2377:
1916:Zhang D, Iyer LM, He F, Aravind L (2012).
533:guanyl-nucleotide exchange factor activity
3544:
3478:
3429:
3419:
3370:
3329:
3319:
3270:
3260:
3219:
3209:
3168:
3119:
3065:
3008:
2959:
2927:
2910:
2842:
2793:
2783:
2742:
2693:
2683:
2642:
2593:
2541:
2531:
2504:
2487:
2360:
2303:
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2197:
2148:
2099:
2089:
2048:
1999:
1969:
1967:
1965:
1963:
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1933:
1885:
1867:
1845:
1843:
1823:
1813:
1798:"C9orf72 Hexanucleotide Repeat Expansion"
1772:
1723:
1557:C9ORF72 has been shown to interact with:
1496:formation. Such dysfunctions can lead to
710:regulation of actin filament organization
584:guanyl-nucleotide exchange factor complex
2563:
2561:
2278:Balendra R, Isaacs AM (September 2018).
2072:Fong JC, Karydas AM, Goldman JS (2012).
1911:
1909:
1907:
1905:
1240:
1117:gene is located on the short (p) arm of
1178:
3592:
2878:
2457:
2455:
2453:
1960:
1840:
1467:
1233:produces five different dipeptides by
3089:
3087:
3085:
2558:
2022:
1902:
1516:Primary cilium and hedgehog signaling
675:positive regulation of macroautophagy
271:
232:
227:
170:
129:
124:
1296:
720:regulation of autophagosome assembly
2450:
1789:
1370:GTPase targets of a stable C9ORF72-
1341:guanine nucleotide exchange factors
715:late endosome to lysosome transport
13:
3082:
2078:Alzheimer's Research & Therapy
1856:Frontiers in Cellular Neuroscience
1464:conserved between FLCN and SMCR8.
1331:Likely function of C9ORF72 protein
1103:which in humans is encoded by the
1097:chromosome 9 open reading frame 72
725:negative regulation of GTP binding
14:
3611:
3564:
2666:Otomo A, Pan L, Hadano S (2012).
1532:Implications for future therapies
2672:Neurology Research International
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3025:
2976:
2859:
2810:
2407:
2320:
2271:
2222:
2165:
2016:
1552:
1314:
1740:
1691:
1680:
1662:
1644:
473:More reference expression data
393:right hemisphere of cerebellum
1:
3506:"C9orf72 Interaction Summary"
3100:Molecular Biology of the Cell
1992:10.1093/bioinformatics/bts725
1596:
1586:Trinucleotide repeat disorder
1231:trinucleotide repeat disorder
1221:transcription and splicing, (
1173:amyotrophic lateral sclerosis
1161:National Institutes of Health
685:regulation of TORC1 signaling
240:
139:
16:Protein-coding gene in humans
3537:10.1016/j.neuron.2013.10.015
3211:10.1371/journal.pgen.1008738
2897:(Web Server issue): W244-8.
2785:10.1371/journal.pgen.1009445
2735:10.1212/WNL.0000000000000061
2247:10.1016/j.neuron.2013.02.004
1765:10.1016/j.neuron.2011.09.010
1716:10.1016/j.neuron.2011.09.011
1280:Ubiquitin-binding protein 62
1206:
451:anterior horn of spinal cord
7:
3600:Genes on human chromosome 9
2940:The Journal of Cell Biology
1579:
1488:display dysfunction of the
431:subcutaneous adipose tissue
10:
3616:
3582:gene details page in the
2023:Bigio EH (December 2011).
1526:hedgehog signaling pathway
1472:Repeat sequence expansion
1410:, is activated by C9ORF72-
1367:-like cells of the brain.
649:cytoplasmic stress granule
2835:10.1007/s00401-012-1029-x
2296:10.1038/s41582-018-0047-2
2284:Nature Reviews. Neurology
2041:10.1007/s00401-011-0919-7
1869:10.3389/fncel.2021.661447
1670:"Mouse PubMed Reference:"
1652:"Human PubMed Reference:"
1435:GTPase-activating protein
1394:regulate the function of
1079:
1074:
1070:
1063:
1047:
1028:
1009:
1005:
980:
976:
969:
950:
946:
921:
917:
910:
897:
893:
878:
874:
865:
852:
848:
833:
829:
820:
807:
803:
788:
784:
775:
760:
753:
749:
733:
513:
509:
497:
492:
483:
470:
419:
410:
369:bronchial epithelial cell
365:mucosa of paranasal sinus
357:
348:
318:
310:
306:
289:
276:
239:
218:
209:
205:
188:
175:
138:
115:
106:
102:
57:
54:
44:
37:
32:
28:
23:
3359:Human Molecular Genetics
2989:Human Molecular Genetics
2533:10.3389/fneur.2012.00136
2468:Human Molecular Genetics
2141:10.1136/jnnp-2011-301883
1935:10.3389/fgene.2012.00283
1476:in C9orf72 that lead to
594:Atg1/ULK1 kinase complex
3421:10.1073/pnas.2220496120
3321:10.1073/pnas.2002110117
3112:10.1091/mbc.E17-12-0703
3058:10.1126/science.aaf1064
2199:10.1126/science.1232927
1169:frontotemporal dementia
1041:Chr 4: 35.19 – 35.23 Mb
1034:Chr 9: 27.54 – 27.57 Mb
700:stress granule assembly
680:regulation of autophagy
2891:Nucleic Acids Research
2520:Frontiers in Neurology
2428:10.1212/WNL.58.11.1615
1522:Smith-Magenis syndrome
1418:functioning as a GEF.
1343:(GEF), which activate
443:atrioventricular valve
2952:10.1083/jcb.201008051
2823:Acta Neuropathologica
2029:Acta Neuropathologica
1922:Frontiers in Genetics
1802:Behavioural Neurology
1241:Clinical significance
1197:Trichomonas vaginalis
435:stroma of bone marrow
385:cerebellar hemisphere
3576:genome location and
3471:10.1093/brain/aws001
2871:26 June 2012 at the
2635:10.1093/brain/awr361
2586:10.1093/brain/aws004
1815:10.1155/2019/2909168
1390:. Also, C9ORF72 and
1378:complex include the
1303:genetic anticipation
1301:It is possible that
1179:Evolutionary history
1130:cytogenetic location
554:extracellular region
439:olfactory epithelium
427:white adipose tissue
423:facial motor nucleus
234:Chromosome 4 (mouse)
132:Chromosome 9 (human)
3584:UCSC Genome Browser
3412:2023PNAS..12020496T
3406:(50): e2220496120.
3312:2020PNAS..117.9876T
3050:2016Sci...351.1324O
2866:New Testing for ALS
2685:10.1155/2012/498428
2353:10.1038/nature14974
2345:2015Natur.525..129F
2190:2013Sci...339.1335M
1468:DNA damage response
1402:, which along with
579:extracellular space
569:cytoplasmic vesicle
96:C9orf72 - orthologs
3372:10.1093/hmg/ddx170
3262:10.7717/peerj.5815
3161:10.1111/acel.13126
3001:10.1093/hmg/ddu068
2903:10.1093/nar/gki408
2480:10.1093/hmg/dds055
1549:repeat expansion.
1353:haploinsufficiency
1276:in all C9 carriers
1223:haploinsufficiency
1122:open reading frame
855:ENSMUSG00000028300
663:Biological process
599:axonal growth cone
542:Cellular component
521:Molecular function
381:right uterine tube
3465:(Pt 3): 794–806.
3365:(15): 2882–2896.
3306:(18): 9876–9883.
3106:(18): 2213–2227.
1478:neurodegeneration
1325:Quest Diagnostics
1297:Gene heritability
1090:
1089:
1086:
1085:
1059:
1058:
1024:
1023:
999:
998:
965:
964:
940:
939:
906:
905:
887:
886:
861:
860:
842:
841:
816:
815:
797:
796:
745:
744:
654:neuron projection
505:
504:
501:
500:
479:
478:
466:
465:
404:
403:
373:cerebellar vermis
302:
301:
201:
200:
3607:
3559:
3558:
3548:
3516:
3510:
3509:
3502:
3493:
3492:
3482:
3450:
3444:
3443:
3433:
3423:
3391:
3385:
3384:
3374:
3350:
3344:
3343:
3333:
3323:
3291:
3285:
3284:
3274:
3264:
3240:
3234:
3233:
3223:
3213:
3189:
3183:
3182:
3172:
3140:
3134:
3133:
3123:
3091:
3080:
3079:
3069:
3044:(6279): 1324–9.
3029:
3023:
3022:
3012:
2980:
2974:
2973:
2963:
2931:
2925:
2924:
2914:
2882:
2876:
2863:
2857:
2856:
2846:
2814:
2808:
2807:
2797:
2787:
2763:
2757:
2756:
2746:
2714:
2708:
2707:
2697:
2687:
2663:
2657:
2656:
2646:
2629:(Pt 3): 736–50.
2614:
2608:
2607:
2597:
2580:(Pt 3): 765–83.
2565:
2556:
2555:
2545:
2535:
2511:
2502:
2501:
2491:
2459:
2448:
2447:
2411:
2405:
2404:
2384:
2375:
2374:
2364:
2339:(7567): 129–33.
2324:
2318:
2317:
2307:
2275:
2269:
2268:
2258:
2226:
2220:
2219:
2201:
2184:(6125): 1335–8.
2169:
2163:
2162:
2152:
2120:
2114:
2113:
2103:
2093:
2091:10.1186/alzrt130
2069:
2063:
2062:
2052:
2020:
2014:
2013:
2003:
1971:
1958:
1957:
1947:
1937:
1913:
1900:
1899:
1889:
1871:
1847:
1838:
1837:
1827:
1817:
1793:
1787:
1786:
1776:
1744:
1738:
1737:
1727:
1695:
1689:
1684:
1678:
1677:
1666:
1660:
1659:
1648:
1642:
1632:
1621:
1611:
1386:and so regulate
1357:membrane traffic
1347:, most likely a
1211:The mutation of
1072:
1071:
1043:
1036:
1019:
1003:
1002:
994:
974:
973:
970:RefSeq (protein)
960:
944:
943:
935:
915:
914:
891:
890:
872:
871:
846:
845:
827:
826:
801:
800:
782:
781:
751:
750:
634:nuclear membrane
511:
510:
490:
489:
475:
415:
413:Top expressed in
408:
407:
389:Brodmann area 23
353:
351:Top expressed in
346:
345:
325:
324:
308:
307:
298:
285:
274:
259:
252:
246:
235:
223:
207:
206:
197:
184:
173:
158:
151:
145:
134:
120:
104:
103:
98:
49:
42:
21:
20:
3615:
3614:
3610:
3609:
3608:
3606:
3605:
3604:
3590:
3589:
3567:
3562:
3517:
3513:
3504:
3503:
3496:
3451:
3447:
3392:
3388:
3351:
3347:
3292:
3288:
3241:
3237:
3204:(4): e1008738.
3190:
3186:
3141:
3137:
3092:
3083:
3030:
3026:
2995:(13): 3579–95.
2981:
2977:
2932:
2928:
2883:
2879:
2873:Wayback Machine
2864:
2860:
2815:
2811:
2778:(3): e1009445.
2764:
2760:
2715:
2711:
2664:
2660:
2615:
2611:
2566:
2559:
2512:
2505:
2460:
2451:
2422:(11): 1615–21.
2412:
2408:
2385:
2378:
2325:
2321:
2276:
2272:
2227:
2223:
2170:
2166:
2121:
2117:
2070:
2066:
2021:
2017:
1972:
1961:
1914:
1903:
1848:
1841:
1794:
1790:
1745:
1741:
1696:
1692:
1685:
1681:
1668:
1667:
1663:
1650:
1649:
1645:
1633:
1624:
1612:
1603:
1599:
1591:RAN translation
1582:
1555:
1534:
1518:
1470:
1462:arginine finger
1460:identifying an
1388:macro-autophagy
1333:
1321:genetic testing
1317:
1299:
1243:
1235:RAN translation
1209:
1181:
1149:Rosa Rademakers
1081:View/Edit Mouse
1076:View/Edit Human
1039:
1032:
1029:Location (UCSC)
1015:
1011:
990:
986:
982:
956:
952:
931:
927:
923:
836:ENSG00000147894
729:
658:
639:cell projection
537:
528:protein binding
471:
462:
457:
453:
449:
445:
441:
437:
433:
429:
425:
411:
400:
395:
391:
387:
383:
379:
375:
371:
367:
363:
349:
293:
280:
272:
262:
261:
260:
253:
233:
210:Gene location (
192:
179:
171:
161:
160:
159:
152:
130:
107:Gene location (
58:
45:
38:
17:
12:
11:
5:
3613:
3603:
3602:
3588:
3587:
3566:
3565:External links
3563:
3561:
3560:
3511:
3494:
3445:
3386:
3345:
3286:
3235:
3184:
3135:
3081:
3024:
2975:
2926:
2877:
2858:
2809:
2758:
2709:
2658:
2609:
2557:
2503:
2474:(11): 2412–9.
2449:
2406:
2376:
2319:
2290:(9): 544–558.
2270:
2221:
2164:
2115:
2064:
2015:
1986:(4): 499–503.
1980:Bioinformatics
1959:
1901:
1839:
1788:
1739:
1690:
1679:
1661:
1643:
1622:
1600:
1598:
1595:
1594:
1593:
1588:
1581:
1578:
1577:
1576:
1571:
1565:
1554:
1551:
1533:
1530:
1517:
1514:
1469:
1466:
1382:that simulate
1332:
1329:
1316:
1313:
1308:founder effect
1298:
1295:
1283:
1282:
1277:
1242:
1239:
1208:
1205:
1180:
1177:
1143:as well as in
1132:is at 9p21.2.
1088:
1087:
1084:
1083:
1078:
1068:
1067:
1061:
1060:
1057:
1056:
1054:
1052:
1045:
1044:
1037:
1030:
1026:
1025:
1022:
1021:
1007:
1006:
1000:
997:
996:
978:
977:
971:
967:
966:
963:
962:
948:
947:
941:
938:
937:
919:
918:
912:
908:
907:
904:
903:
895:
894:
888:
885:
884:
876:
875:
869:
863:
862:
859:
858:
850:
849:
843:
840:
839:
831:
830:
824:
818:
817:
814:
813:
805:
804:
798:
795:
794:
786:
785:
779:
773:
772:
767:
762:
758:
757:
747:
746:
743:
742:
731:
730:
728:
727:
722:
717:
712:
707:
705:axon extension
702:
697:
692:
687:
682:
677:
672:
666:
664:
660:
659:
657:
656:
651:
646:
641:
636:
631:
626:
621:
616:
611:
606:
601:
596:
591:
586:
581:
576:
571:
566:
561:
556:
551:
545:
543:
539:
538:
536:
535:
530:
524:
522:
518:
517:
507:
506:
503:
502:
499:
498:
495:
494:
487:
481:
480:
477:
476:
468:
467:
464:
463:
461:
460:
456:
455:pontine nuclei
452:
448:
447:spinal ganglia
444:
440:
436:
432:
428:
424:
420:
417:
416:
405:
402:
401:
399:
398:
394:
390:
386:
382:
378:
374:
370:
366:
362:
358:
355:
354:
342:
341:
333:
322:
316:
315:
312:RNA expression
304:
303:
300:
299:
291:
287:
286:
278:
275:
270:
264:
263:
254:
247:
241:
237:
236:
231:
225:
224:
216:
215:
203:
202:
199:
198:
190:
186:
185:
177:
174:
169:
163:
162:
153:
146:
140:
136:
135:
128:
122:
121:
113:
112:
100:
99:
56:
52:
51:
43:
35:
34:
30:
29:
26:
25:
15:
9:
6:
4:
3:
2:
3612:
3601:
3598:
3597:
3595:
3585:
3581:
3580:
3575:
3574:
3569:
3568:
3556:
3552:
3547:
3542:
3538:
3534:
3531:(2): 415–28.
3530:
3526:
3522:
3515:
3507:
3501:
3499:
3490:
3486:
3481:
3476:
3472:
3468:
3464:
3460:
3456:
3449:
3441:
3437:
3432:
3427:
3422:
3417:
3413:
3409:
3405:
3401:
3397:
3390:
3382:
3378:
3373:
3368:
3364:
3360:
3356:
3349:
3341:
3337:
3332:
3327:
3322:
3317:
3313:
3309:
3305:
3301:
3297:
3290:
3282:
3278:
3273:
3268:
3263:
3258:
3254:
3250:
3246:
3239:
3231:
3227:
3222:
3217:
3212:
3207:
3203:
3199:
3198:PLOS Genetics
3195:
3188:
3180:
3176:
3171:
3166:
3162:
3158:
3155:(4): e13126.
3154:
3150:
3146:
3139:
3131:
3127:
3122:
3117:
3113:
3109:
3105:
3101:
3097:
3090:
3088:
3086:
3077:
3073:
3068:
3063:
3059:
3055:
3051:
3047:
3043:
3039:
3035:
3028:
3020:
3016:
3011:
3006:
3002:
2998:
2994:
2990:
2986:
2979:
2971:
2967:
2962:
2957:
2953:
2949:
2946:(2): 367–81.
2945:
2941:
2937:
2930:
2922:
2918:
2913:
2908:
2904:
2900:
2896:
2892:
2888:
2881:
2874:
2870:
2867:
2862:
2854:
2850:
2845:
2840:
2836:
2832:
2829:(3): 353–72.
2828:
2824:
2820:
2813:
2805:
2801:
2796:
2791:
2786:
2781:
2777:
2773:
2769:
2762:
2754:
2750:
2745:
2740:
2736:
2732:
2728:
2724:
2720:
2713:
2705:
2701:
2696:
2691:
2686:
2681:
2677:
2673:
2669:
2662:
2654:
2650:
2645:
2640:
2636:
2632:
2628:
2624:
2620:
2613:
2605:
2601:
2596:
2591:
2587:
2583:
2579:
2575:
2571:
2564:
2562:
2553:
2549:
2544:
2539:
2534:
2529:
2525:
2521:
2517:
2510:
2508:
2499:
2495:
2490:
2485:
2481:
2477:
2473:
2469:
2465:
2458:
2456:
2454:
2445:
2441:
2437:
2433:
2429:
2425:
2421:
2417:
2410:
2402:
2398:
2394:
2390:
2383:
2381:
2372:
2368:
2363:
2358:
2354:
2350:
2346:
2342:
2338:
2334:
2330:
2323:
2315:
2311:
2306:
2301:
2297:
2293:
2289:
2285:
2281:
2274:
2266:
2262:
2257:
2252:
2248:
2244:
2241:(4): 639–46.
2240:
2236:
2232:
2225:
2217:
2213:
2209:
2205:
2200:
2195:
2191:
2187:
2183:
2179:
2175:
2168:
2160:
2156:
2151:
2146:
2142:
2138:
2135:(4): 358–64.
2134:
2130:
2126:
2119:
2111:
2107:
2102:
2097:
2092:
2087:
2083:
2079:
2075:
2068:
2060:
2056:
2051:
2046:
2042:
2038:
2034:
2030:
2026:
2019:
2011:
2007:
2002:
1997:
1993:
1989:
1985:
1981:
1977:
1970:
1968:
1966:
1964:
1955:
1951:
1946:
1941:
1936:
1931:
1927:
1923:
1919:
1912:
1910:
1908:
1906:
1897:
1893:
1888:
1883:
1879:
1875:
1870:
1865:
1861:
1857:
1853:
1846:
1844:
1835:
1831:
1826:
1821:
1816:
1811:
1807:
1803:
1799:
1792:
1784:
1780:
1775:
1770:
1766:
1762:
1759:(2): 257–68.
1758:
1754:
1750:
1743:
1735:
1731:
1726:
1721:
1717:
1713:
1710:(2): 245–56.
1709:
1705:
1701:
1694:
1688:
1683:
1675:
1671:
1665:
1657:
1653:
1647:
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1569:
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1563:
1560:
1559:
1558:
1550:
1548:
1543:
1539:
1536:Overall, the
1529:
1527:
1523:
1513:
1511:
1507:
1506:up-regulation
1503:
1502:Motor neurons
1499:
1495:
1491:
1487:
1483:
1479:
1475:
1465:
1463:
1459:
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1385:
1381:
1377:
1373:
1368:
1366:
1362:
1358:
1354:
1350:
1346:
1345:small GTPases
1342:
1337:
1328:
1326:
1322:
1312:
1309:
1304:
1294:
1292:
1287:
1281:
1278:
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1158:
1157:Bryan Traynor
1154:
1150:
1146:
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1138:
1133:
1131:
1127:
1123:
1120:
1116:
1111:
1109:
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1098:
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1069:
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1062:
1055:
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1050:
1046:
1042:
1038:
1035:
1031:
1027:
1020:
1018:
1014:
1008:
1004:
1001:
995:
993:
989:
985:
979:
975:
972:
968:
961:
959:
955:
949:
945:
942:
936:
934:
930:
926:
920:
916:
913:
911:RefSeq (mRNA)
909:
902:
901:
896:
892:
889:
883:
882:
877:
873:
870:
868:
864:
857:
856:
851:
847:
844:
838:
837:
832:
828:
825:
823:
819:
812:
811:
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802:
799:
793:
792:
787:
783:
780:
778:
774:
771:
768:
766:
763:
759:
756:
752:
748:
741:
737:
732:
726:
723:
721:
718:
716:
713:
711:
708:
706:
703:
701:
698:
696:
693:
691:
688:
686:
683:
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678:
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582:
580:
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572:
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549:autophagosome
547:
546:
544:
541:
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534:
531:
529:
526:
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523:
520:
519:
516:
515:Gene ontology
512:
508:
496:
491:
488:
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482:
474:
469:
458:
454:
450:
446:
442:
438:
434:
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297:
292:
288:
284:
279:
269:
265:
258:
251:
245:
238:
230:
226:
222:
217:
213:
208:
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196:
191:
187:
183:
178:
168:
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150:
144:
137:
133:
127:
123:
119:
114:
110:
105:
101:
97:
93:
89:
85:
81:
77:
73:
69:
65:
61:
53:
48:
41:
36:
31:
27:
22:
19:
3578:
3572:
3528:
3524:
3514:
3462:
3458:
3448:
3403:
3399:
3389:
3362:
3358:
3348:
3303:
3299:
3289:
3252:
3248:
3238:
3201:
3197:
3187:
3152:
3148:
3138:
3103:
3099:
3041:
3037:
3027:
2992:
2988:
2978:
2943:
2939:
2929:
2894:
2890:
2880:
2861:
2826:
2822:
2812:
2775:
2771:
2761:
2729:(4): 292–9.
2726:
2722:
2712:
2675:
2671:
2661:
2626:
2622:
2612:
2577:
2573:
2523:
2519:
2471:
2467:
2419:
2415:
2409:
2392:
2336:
2332:
2322:
2287:
2283:
2273:
2238:
2234:
2224:
2181:
2177:
2167:
2132:
2128:
2118:
2081:
2077:
2067:
2035:(6): 653–5.
2032:
2028:
2018:
1983:
1979:
1925:
1921:
1859:
1855:
1805:
1801:
1791:
1756:
1752:
1742:
1707:
1703:
1693:
1682:
1673:
1664:
1655:
1646:
1556:
1553:Interactions
1546:
1541:
1537:
1535:
1519:
1471:
1430:
1420:
1369:
1338:
1334:
1318:
1315:Gene testing
1300:
1290:
1285:
1284:
1267:
1256:
1250:
1246:
1244:
1226:
1217:
1212:
1210:
1202:
1195:
1189:
1186:
1182:
1164:
1134:
1119:chromosome 9
1114:
1112:
1107:
1096:
1092:
1091:
1013:NP_001074812
1010:
984:NP_001242983
981:
954:NM_001081343
951:
929:NM_001256054
922:
898:
879:
853:
834:
808:
789:
769:
764:
335:
328:
55:External IDs
18:
2393:GeneReviews
1808:: 2909168.
1380:Rag GTPases
1153:Mayo Clinic
1145:presynaptic
670:endocytosis
629:growth cone
294:35,226,175
281:35,191,285
273:4|4 A5
193:27,573,866
180:27,535,640
33:Identifiers
3508:. BioGRID.
3149:Aging Cell
2772:PLOS Genet
2678:: 498428.
1862:: 661447.
1641:, May 2017
1620:, May 2017
1597:References
1498:DNA damage
1396:lysosomes.
1365:macrophage
1171:(FTD) and
1113:The human
644:perikaryon
377:right lung
339:(ortholog)
76:HomoloGene
3255:: e5815.
2723:Neurology
2416:Neurology
2084:(4): 27.
1878:1662-5102
1510:apoptosis
1490:nucleolus
1474:mutations
1361:microglia
1207:Mutations
1191:Entamoeba
1137:cytoplasm
1126:base pair
1124:72, from
1017:NP_082742
992:NP_659442
988:NP_060795
958:NM_028466
933:NM_018325
925:NM_145005
755:Orthologs
690:autophagy
604:main axon
589:cytoplasm
84:GeneCards
3594:Category
3555:24139042
3489:22366795
3440:38064514
3431:10723147
3381:28481984
3340:32303654
3281:30356970
3230:32282804
3179:32100453
3130:29995611
3076:26989253
3019:24549040
2970:20937701
2921:15980461
2869:Archived
2853:22890575
2804:33780440
2753:24363131
2704:22852081
2653:22366791
2604:22366793
2552:23060854
2498:22343411
2444:45904851
2436:12058088
2401:25577942
2371:26308899
2314:30120348
2265:23415312
2216:32244381
2208:23393093
2159:22399793
2110:22808918
2059:22101324
2010:23329412
1954:23248642
1896:34025358
1834:30774737
1783:21944779
1734:21944778
1637:–
1616:–
1580:See also
1065:Wikidata
734:Sources:
624:dendrite
614:membrane
564:lysosome
559:endosome
361:monocyte
3579:C9orf72
3573:C9orf72
3546:4098943
3480:3286334
3408:Bibcode
3331:7211967
3308:Bibcode
3272:6195791
3221:7188304
3170:7189992
3121:6249801
3067:5120541
3046:Bibcode
3038:Science
3010:4049310
2961:2958468
2912:1160169
2844:3422616
2795:8031855
2744:3929197
2695:3407648
2644:3286330
2595:3286335
2543:3463813
2526:: 136.
2489:3349421
2362:4631399
2341:Bibcode
2305:6417666
2256:3593233
2186:Bibcode
2178:Science
2150:3388906
2101:3506941
2050:3262229
2001:3570213
1945:3521125
1928:: 283.
1887:8131521
1825:6350563
1774:3200438
1725:3202986
1639:Ensembl
1618:Ensembl
1547:C9ORF72
1542:C9ORF72
1538:C9ORF72
1492:and of
1458:cryo-EM
1456:, with
1291:C9ORF72
1286:C9ORF72
1251:C9ORF72
1247:C9ORF72
1227:C9ORF72
1218:C9ORF72
1213:C9ORF72
1165:C9orf72
1159:of the
1141:neurons
1115:C9orf72
1108:C9orf72
1101:protein
1099:) is a
1093:C9orf72
867:UniProt
822:Ensembl
761:Species
740:QuickGO
574:nucleus
314:pattern
88:C9orf72
72:1920455
47:C9orf72
40:Aliases
24:C9orf72
3570:Human
3553:
3543:
3525:Neuron
3487:
3477:
3438:
3428:
3379:
3338:
3328:
3279:
3269:
3228:
3218:
3177:
3167:
3128:
3118:
3074:
3064:
3017:
3007:
2968:
2958:
2919:
2909:
2875:(2012)
2851:
2841:
2802:
2792:
2751:
2741:
2702:
2692:
2651:
2641:
2602:
2592:
2550:
2540:
2496:
2486:
2442:
2434:
2399:
2369:
2359:
2333:Nature
2312:
2302:
2263:
2253:
2235:Neuron
2214:
2206:
2157:
2147:
2108:
2098:
2057:
2047:
2008:
1998:
1952:
1942:
1894:
1884:
1876:
1832:
1822:
1781:
1771:
1753:Neuron
1732:
1722:
1704:Neuron
1574:ADARB2
1562:ELAVL1
1494:R-loop
1454:Rab11a
1408:Rab11A
1384:mTORC1
1363:, the
1274:TDP-43
1263:TDP-43
1051:search
1049:PubMed
900:Q6DFW0
881:Q96LT7
791:203228
777:Entrez
609:P-body
485:BioGPS
459:atrium
172:9p21.2
64:614260
3459:Brain
3249:PeerJ
2623:Brain
2574:Brain
2440:S2CID
2212:S2CID
1570:, and
1450:Rab8a
1439:FLCN-
1433:as a
1427:WDR41
1423:SMCR8
1416:WDR41
1412:SMCR8
1404:Rab5A
1400:Rab7A
1392:SMCR8
1376:WDR41
1372:SMCR8
810:73205
770:Mouse
765:Human
736:Amigo
397:blood
337:Mouse
330:Human
277:Start
212:Mouse
176:Start
109:Human
80:10137
3551:PMID
3485:PMID
3436:PMID
3377:PMID
3336:PMID
3277:PMID
3226:PMID
3175:PMID
3126:PMID
3072:PMID
3015:PMID
2966:PMID
2917:PMID
2849:PMID
2800:PMID
2749:PMID
2700:PMID
2676:2012
2649:PMID
2600:PMID
2548:PMID
2494:PMID
2432:PMID
2397:PMID
2367:PMID
2310:PMID
2261:PMID
2204:PMID
2155:PMID
2106:PMID
2055:PMID
2006:PMID
1950:PMID
1892:PMID
1874:ISSN
1830:PMID
1806:2019
1779:PMID
1730:PMID
1452:and
1448:for
1442:FNIP
1431:i.e.
1406:and
1259:SOD1
1245:The
1194:and
1155:and
1105:gene
619:axon
320:Bgee
268:Band
229:Chr.
167:Band
126:Chr.
60:OMIM
3541:PMC
3533:doi
3475:PMC
3467:doi
3463:135
3426:PMC
3416:doi
3404:120
3367:doi
3326:PMC
3316:doi
3304:117
3267:PMC
3257:doi
3216:PMC
3206:doi
3165:PMC
3157:doi
3116:PMC
3108:doi
3062:PMC
3054:doi
3042:351
3005:PMC
2997:doi
2956:PMC
2948:doi
2944:191
2907:PMC
2899:doi
2839:PMC
2831:doi
2827:124
2790:PMC
2780:doi
2739:PMC
2731:doi
2690:PMC
2680:doi
2639:PMC
2631:doi
2627:135
2590:PMC
2582:doi
2578:135
2538:PMC
2528:doi
2484:PMC
2476:doi
2424:doi
2357:PMC
2349:doi
2337:525
2300:PMC
2292:doi
2251:PMC
2243:doi
2194:doi
2182:339
2145:PMC
2137:doi
2096:PMC
2086:doi
2045:PMC
2037:doi
2033:122
1996:PMC
1988:doi
1940:PMC
1930:doi
1882:PMC
1864:doi
1820:PMC
1810:doi
1769:PMC
1761:doi
1720:PMC
1712:doi
1568:UBC
1486:FTD
1482:ALS
1480:in
1446:GAP
1349:Rab
1261:or
1151:of
1139:of
493:n/a
290:End
189:End
92:OMA
68:MGI
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