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Published in: Journal of Neural Transmission 11/2017

01-11-2017 | Neurology and Preclinical Neurological Studies - Short communication

Lysosomal defects in ATP13A2 and GBA associated familial Parkinson’s disease

Authors: Shigeto Sato, Yuanzhe Li, Nobutaka Hattori

Published in: Journal of Neural Transmission | Issue 11/2017

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Abstract

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.
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Metadata
Title
Lysosomal defects in ATP13A2 and GBA associated familial Parkinson’s disease
Authors
Shigeto Sato
Yuanzhe Li
Nobutaka Hattori
Publication date
01-11-2017
Publisher
Springer Vienna
Published in
Journal of Neural Transmission / Issue 11/2017
Print ISSN: 0300-9564
Electronic ISSN: 1435-1463
DOI
https://doi.org/10.1007/s00702-017-1779-7

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