Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review

ATP13A2 is a gene localized on chromosome 1p36.13 and coding for a transmembrane protein found in the lysosomes and late endosomes, which is involved in many cellular metabolic activities. Pathogenetic variants of ATP13A2 are associated with a wide range of neurodegenerative disorder including Kufor...

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Main Authors: Leonardo Affronte, Antonella Pini, Claudia Pizzoli, Emanuele Coccia, Serena Mazzone, Arber Golemi, Melania Giannotta, Duccio Maria Cordelli, Valerio Carelli, Alessandro Vaisfeld, Flavia Palombo
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Genetics
Subjects:
ATP13A2
WES
juvenile onset parkinsonism
kufor rakeb syndrome
KRS cases revision
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1588812/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1588812/full

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