The advances in research on phosphorylation of polyglutamine disease.
- Author:
Ya-fang ZHOU
1
;
Hong JIANG
;
Jian-guang TANG
;
Bei-sha TANG
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 People's Republic of China.
- Publication Type:Journal Article
- MeSH:
Heredodegenerative Disorders, Nervous System;
genetics;
metabolism;
Humans;
Huntington Disease;
genetics;
metabolism;
Machado-Joseph Disease;
genetics;
metabolism;
Muscular Atrophy, Spinal;
Peptides;
genetics;
metabolism;
Phosphorylation;
physiology;
Spinocerebellar Degenerations;
genetics;
metabolism;
Trinucleotide Repeat Expansion;
genetics;
physiology;
Trinucleotide Repeats;
genetics
- From:
Chinese Journal of Medical Genetics
2008;25(4):414-417
- CountryChina
- Language:Chinese
-
Abstract:
Polyglutamine (polyQ) diseases are a group of hereditary neurodegenerative disorders caused by expansion of a glutamine repeat in responsible gene products. To date, the pathogenesis of polyQ diseases is still not very clear, but many researches suggest that phosphorylation of mutant proteins plays a critical role on the process of Huntington's disease, dentatorubral-pallidoluysian atrophy, spinal bulbar muscular atrophy, spinocerebellar ataxia1 and spinocerebellar ataxia 3/Machado-Joseph disease.
