(Q29147504)

4 April 2017

title

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

1 reference

regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization

4 April 2017

main subject

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1905089

positive regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1905091

negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization

2 references

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1905090

Vacuolar protein sorting 13 homolog C

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

2 references

parkinsonian syndrome

1 reference

42

0 references

Anne-Louise Leutenegger

Anne-Louise Leutenegger

26

0 references

Nihan Erginel-Unaltuna

Nihan Erginel-Unaltuna

0 references

Basar Bilgic

Basar Bilgic

17

0 references

Olga Corti

Olga Corti

41

0 references

Vincent Deramecourt

Vincent Deramecourt

4

0 references

Jean-Christophe Corvol

Jean-Christophe Corvol

24

0 references

Christine Tranchant

Christine Tranchant

22

0 references

Suzanne Lesage

1

Suzanne Lesage

1 reference

International Parkinson's Disease Genomics Consortium

4 April 2017

44

International Parkinson's Disease Genomics Consortium (IPDGC)

1 reference

4 April 2017

33

Thomas Gasser

1 reference

4 April 2017

23

Marie Vidailhet

1 reference

4 April 2017

25

Paul Krack

1 reference

4 April 2017

13

Claude-Alain Maurage

1 reference

4 April 2017

31

John Hardy

1 reference

4 April 2017

29

Peter Heutink

1 reference

4 April 2017

34

Alexandra Durr

1 reference

4 April 2017

40

Andrew Singleton

1 reference

4 April 2017

28

Dena G. Hernandez

1 reference

ORCID Public Data File 2021

4 April 2017

1 reference

Nicholas W. Wood

32

Nicholas W. Wood

1 reference

4 April 2017

Jean-François Deleuze

35

Jean-François Deleuze

1 reference

4 April 2017

5

Maxime Jacoupy

1 reference

4 April 2017

39

Edor Kabashi

1 reference

4 April 2017

9

Claire Pujol

1 reference

4 April 2017

36

Meriem Tazir

1 reference

4 April 2017

38

Ebba Lohmann

1 reference

4 April 2017

30

J. Raphael Gibbs

1 reference

4 April 2017

37

Alain Destée

1 reference

Florence Cormier-Dequaire

4 April 2017

7

Florence Cormier-Dequaire

1 reference

4 April 2017

16

Jinhui Ding

1 reference

4 April 2017

3

Elisa Majounie

1 reference

4 April 2017

2

Valérie Drouet

1 reference

4 April 2017

12

Tatiana Usenko

1 reference

4 April 2017

6

Aude Nicolas

1 reference

4 April 2017

27

Michael A. Nalls

1 reference

4 April 2017

21

François Tison

1 reference

4 April 2017

Sidi Mohamed Hassoun

8

1 reference

4 April 2017

Sorana Ciura

10

1 reference

4 April 2017

Zoi Erpapazoglou

11

1 reference

4 April 2017

Mourad Sahbatou

14

1 reference

4 April 2017

Stefan Liebau

15

1 reference

4 April 2017

Murat Emre

18

1 reference

4 April 2017

Gamze Guven

20

1 reference

4 April 2017

French Parkinson's Disease Genetics Study (PDG)

43

1 reference

4 April 2017

language of work or name

English

0 references

publication date

3 March 2016

1 reference

American Journal of Human Genetics

4 April 2017

published in

1 reference

4 April 2017

volume

98

1 reference

4 April 2017

issue

3

1 reference

4 April 2017

page(s)

500–513

1 reference

describes a project that uses

4 April 2017

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4800038/fullTextXML

inferred from PubMed Central ID database lookup

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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

6 April 2017

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Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality control

6 April 2017

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The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy

6 April 2017

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A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

6 April 2017

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Parkin is transcriptionally regulated by ATF4: evidence for an interconnection between mitochondrial stress and ER stress

6 April 2017

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Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

6 April 2017

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7 April 2017

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7 April 2017

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Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

7 April 2017

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Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin

7 April 2017

1 reference

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The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson's disease

7 April 2017

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Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10

3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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26 November 2018

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26 November 2018

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PINK1-linked parkinsonism is associated with Lewy body pathology

26 November 2018

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26 November 2018

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26 November 2018

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26 November 2018

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https://pubmed.ncbi.nlm.nih.gov/26942284

12 December 2020

inferred from PubMed ID database lookup

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https://pubmed.ncbi.nlm.nih.gov/26942284

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Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa

1 reference

https://pubmed.ncbi.nlm.nih.gov/26942284

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2016.01.014

1 reference

1 reference

1 reference

1 reference