The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs | Zendy

Tim P. Levine | Zendy; Rachel D. Daniels | Zendy; Alberto T. Gatta | Zendy; Louise H. Wong | Zendy; Matthew J. Hayes | Zendy

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

Author(s) -

Tim P. Levine,

Rachel D. Daniels,

Alberto T. Gatta,

Louise H. Wong,

Matthew J. Hayes

Publication year - 2013

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/bts725

Subject(s) - c9orf72 , rab , neurodegeneration , amyotrophic lateral sclerosis , biology , gtpase , gene , computational biology , genetics , gene product , neuroscience , microbiology and biotechnology , trinucleotide repeat expansion , disease , medicine , gene expression , pathology , allele

Fronto-temporal dementia (FTD) and amyotrophic lateral sclerosis (ALS, also called motor neuron disease, MND) are severe neurodegenerative diseases that show considerable overlap at the clinical and cellular level. The most common single mutation in families with FTD or ALS has recently been mapped to a non-coding repeat expansion in the uncharacterized gene C9ORF72. Although a plausible mechanism for disease is that aberrant C9ORF72 mRNA poisons splicing, it is important to determine the cellular function of C9ORF72, about which nothing is known.

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