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C9ORF72 mutations in neurodegenerative diseases.

Molecular neurobiology - 1 Feb 2014

Liu Ying, Yu Jin-Tai, Zong Yu, Zhou Jing, Tan Lan

Abstract excerpt

Recent works have demonstrated an expansion of the GGGGCC hexanucleotide repeat in the first intron of chromosome 9 open reading frame 72 (C9ORF72), encoding an unknown C9ORF72 protein, which was responsible for an unprecedented large proportion of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases of European ancestry. C9ORF72 is expressed in most tissues including the brain. Emerging...

Topics

Amyotrophic Lateral Sclerosis
Animals
C9orf72 Protein
Frontotemporal Dementia
Humans
Mutation
Neurodegenerative Diseases
Proteins

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23934648
DOI: 10.1007/s12035-013-8528-1

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