Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
about
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function.Crosstalk between Lysosomes and Mitochondria in Parkinson's Disease.Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?Parkinson disease related ATP13A2 evolved early in animal evolution.[Ataxias and hereditary spastic paraplegias].Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
description
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name
Loss-of-function mutations in ...... ry spastic paraplegia (SPG78).
@en
Loss-of-function mutations in ...... hereditary spastic paraplegia
@nl
type
label
Loss-of-function mutations in ...... ry spastic paraplegia (SPG78).
@en
Loss-of-function mutations in ...... hereditary spastic paraplegia
@nl
prefLabel
Loss-of-function mutations in ...... ry spastic paraplegia (SPG78).
@en
Loss-of-function mutations in ...... hereditary spastic paraplegia
@nl
P2093
P2860
P50
P356
P1433
P1476
Loss-of-function mutations in ...... ry spastic paraplegia (SPG78).
@en
P2093
Albena Andreeva
Albena Jordanova
Alejandro Estrada-Cuzcano
Bob Asselbergh
Dae-In Chang
Danny Mollerup Sørensen
Ivailo Tournev
Jean Samuel
Jennifer Reichbauer
Peter Vangheluwe
P2860
P304
P356
10.1093/BRAIN/AWW307
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P577
2017-02-01T00:00:00Z