NETWORK: N01143 Help
Entry Name Mutation-inactivated C9orf72 to C9orf72-mediated autophagy initiation
Definition RAB1A // (C9orf72*+WDR41+SMCR8) // (ULK1+RB1CC1+ATG101+ATG13)
Expanded 5861 // (203228v1+55255+140775) // (8408+9821+60673+9776)
Class nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
Type Variant
Pathway Disease H00058 Amyotrophic lateral sclerosis (ALS)
Gene 5861 RAB1A; RAB1A, member RAS oncogene family
203228 C9orf72; C9orf72-SMCR8 complex subunit
55255 WDR41; WD repeat domain 41
140775 SMCR8; SMCR8-C9orf72 complex subunit
8408 ULK1; unc-51 like autophagy activating kinase 1
9821 RB1CC1; RB1 inducible coiled-coil 1
60673 ATG101; autophagy related 101
9776 ATG13; autophagy related 13
Variant Reference Authors Webster CP, Smith EF, Grierson AJ, De Vos KJ
Title C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy.
Journal Reference Authors Deng Z, Sheehan P, Chen S, Yue Z
Title Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?
Journal Reference Authors DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R
Title Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Journal Reference Authors Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, Da Cruz S, Lagier-Tourenne C, Cleveland DW
Title Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72.
Journal LinkDB All DBs
