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Journal of Neural Transmission

Erschienen in:

11.09.2017 | Neurology and Preclinical Neurological Studies - Short communication

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

verfasst von: Shigeto Sato, Yuanzhe Li, Nobutaka Hattori

Erschienen in: Journal of Neural Transmission | Ausgabe 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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Titel: Lysosomal defects in ATP13A2 and GBA associated familial Parkinson’s disease
verfasst von: Shigeto Sato
Yuanzhe Li
Nobutaka Hattori
Publikationsdatum: 11.09.2017
Verlag: Springer Vienna
Erschienen in: Journal of Neural Transmission / Ausgabe 11/2017
Print ISSN: 0300-9564
Elektronische ISSN: 1435-1463
DOI: https://doi.org/10.1007/s00702-017-1779-7

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