TheC9ORF72Gene, Implicated in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia, Encodes a Protein That Functions in Control of Endothelin and Glutamate Signaling | Zendy

Vitalay Fomin | Zendy; P. Richard | Zendy; Mainul Hoque | Zendy; Cynthia Li | Zendy; Zhuoying Gu | Zendy; Mercedes Fissore-O'Leary | Zendy; Bin Tian | Zendy; Carol Prives | Zendy; James L. Manley | Zendy

Open Access

TheC9ORF72Gene, Implicated in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia, Encodes a Protein That Functions in Control of Endothelin and Glutamate Signaling

Author(s) -

Vitalay Fomin,

P. Richard,

Mainul Hoque,

Cynthia Li,

Zhuoying Gu,

Mercedes Fissore-O'Leary,

Bin Tian,

Carol Prives,

James L. Manley

Publication year - 2018

Publication title -

molecular and cellular biology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.14

H-Index - 327

eISSN - 1067-8824

pISSN - 0270-7306

DOI - 10.1128/mcb.00155-18

Subject(s) - biology , amyotrophic lateral sclerosis , c9orf72 , glutamate receptor , frontotemporal dementia , microbiology and biotechnology , signal transduction , neurodegeneration , gene , receptor , genetics , trinucleotide repeat expansion , medicine , disease , dementia , allele

A GGGGCC repeat expansion in theC9ORF72 (C9 ) gene is the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Several mechanisms have been proposed to account for its toxicity, including the possibility that reduced C9 protein levels contribute to disease.

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