(Q51730287)

10 April 2018

title

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. (English)

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10 April 2018

Vacuolar protein sorting 13 homolog D

main subject

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mitochondrion organization

GOA release 2020-03-11

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GOA release 2020-03-11

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19

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10 April 2018

Jun Z. Li

object named as

Jun Z Li

10

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Alexander Münchau

13

object named as

Alexander Münchau

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10 April 2018

15

Christine Klein

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10 April 2018

17

Katja Lohmann

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10 April 2018

author name string

Eunju Seong

1

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10 April 2018

Ryan Insolera

2

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10 April 2018

Marija Dulovic

3

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10 April 2018

Erik-Jan Kamsteeg

4

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10 April 2018

Joanne Trinh

5

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10 April 2018

Norbert Brüggemann

6

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10 April 2018

Erin Sandford

7

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10 April 2018

Sheng Li

8

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10 April 2018

Ayse Bilge Ozel

9

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10 April 2018

Tamison Jewett

11

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10 April 2018

Anneke J A Kievit

12

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10 April 2018

Vikram Shakkottai

14

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10 April 2018

Catherine Collins

16

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10 April 2018

Bart P van de Warrenburg

18

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10 April 2018

publication date

31 March 2018

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10 April 2018

published in

Annals of Neurology

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10 April 2018

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6105379/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

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SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore

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Inner membrane fusion mediates spatial distribution of axonal mitochondria

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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

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Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance.

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.25220

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10 April 2018

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10 April 2018