Premium
The role of dipeptide‐repeat protein pathology in C9orf72 mutation cases
Author(s) -
Mackenzie I. R. A.
Publication year - 2016
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/nan.12296
Subject(s) - dipeptide , c9orf72 , mutation , translation (biology) , intracellular , toxicity , biology , medicine , genetics , amino acid , trinucleotide repeat expansion , gene , allele , messenger rna
Repeat‐associated non‐ATG initiated (RAN) translation leads to the generation and intracellular accumulation of five different dipeptides in cases of C9orf72 mutation. Understanding the potential toxicity of these dipeptides is a focus of active investigation.