Ontology highlight
ABSTRACT:
SUBMITTER: Yang ZH
PROVIDER: S-EPMC6611058 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Yang Zhi-Hua ZH Shi Chang-He CH Zhou Li-Na LN Li Yu-Sheng YS Yang Jing J Liu Yu-Tao YT Mao Cheng-Yuan CY Luo Hai-Yang HY Xu Guo-Wang GW Xu Yu-Ming YM
Frontiers in molecular neuroscience 20190627
Spinocerebellar ataxia 3, also known as Machado-Joseph disease (SCA3/MJD), is a rare autosomal-dominant neurodegenerative disease caused by an abnormal expansion of CAG repeats in the <i>ATXN3</i> gene. In the present study, we performed a global metabolomic analysis to identify pathogenic biochemical pathways and novel biomarkers implicated in SCA3 patients. Metabolic profiling of serum samples from 13 preclinical SCA3 patients, 13 symptomatic SCA3 patients, and 15 healthy controls were mapped ...[more]