絞り込み

17061

広告

Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease.

著者 Sato S , Li Y , Hattori N
J Neural Transm (Vienna).2017 Sep 11 ; ():.
この記事をPubMed上で見るPubMedで表示
この記事をGoogle翻訳上で見る Google翻訳で開く

スターを付ける スターを付ける     (54view , 0users)

Full Text Sources

Medical

Genes encoding lysosomal proteins, such as ATP13A2 and GBA, are associated with familial Parkinson's disease (PD). Heterozygous mutations in GBA are strongly associated with familial PD. ATP13A2, which encodes a lysosomal P-type ATPase, has been identified as the causative gene for Kufor-Rakeb syndrome. While lysosomal dysfunction due to these mutations exhibited early onset Parkinsonism, each animal model demonstrated different pathological mechanisms. Clinicogenetic and animal model studies recently identified several lysosomal alterations that play a role in the pathogenesis of PD.
PMID: 28894968 [PubMed - as supplied by publisher]
印刷用ページを開く Endnote用テキストダウンロード