(Q37230703)

19 August 2017

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy (English)

1 reference

19 August 2017

0 references

22

1 reference

19 August 2017

28

1 reference

19 August 2017

26

Elke Holinski-Feder

1 reference

19 August 2017

Erika Ignatius

2

0 references

Christoph Freyer

Christoph Freyer

27

0 references

Anna Wredenberg

Anna Wredenberg

31

0 references

Jan Senderek

Jan Senderek

30

0 references

Holger Prokisch

Holger Prokisch

29

0 references

Rita Horvath

Rita Horvath

25

0 references

Christopher J Carroll

Christopher J Carroll

32

0 references

Martin Dichgans

24

Martin Dichgans

1 reference

19 August 2017

1

Tobias B Haack

1 reference

19 August 2017

4

Arcangela Iuso

1 reference

19 August 2017

33

Thomas Klopstock

1 reference

19 August 2017

23

Tim M Strom

1 reference

19 August 2017

9

Matteo Gorza

1 reference

19 August 2017

19

Manju A Kurian

1 reference

19 August 2017

20

Susan A Hayflick

1 reference

19 August 2017

13

Riccardo Berutti

1 reference

19 August 2017

Javier Calvo-Garrido

3

1 reference

19 August 2017

Pirjo Isohanni

5

1 reference

19 August 2017

Camilla Maffezzini

6

1 reference

19 August 2017

Tuula Lönnqvist

7

1 reference

19 August 2017

Anu Suomalainen

8

1 reference

19 August 2017

Laura S Kremer

10

1 reference

19 August 2017

Elisabeth Graf

11

1 reference

19 August 2017

Monika Hartig

12

1 reference

19 August 2017

Martin Paucar

14

1 reference

19 August 2017

Per Svenningsson

15

1 reference

19 August 2017

Henrik Stranneheim

16

1 reference

19 August 2017

Göran Brandberg

17

1 reference

19 August 2017

Anna Wedell

18

1 reference

19 August 2017

Paola Venco

21

1 reference

19 August 2017

language of work or name

English

0 references

publication date

17 August 2016

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

99

1 reference

19 August 2017

3

1 reference

19 August 2017

735-743

1 reference

describes a project that uses

19 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5010644/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

p62/SQSTM1 functions as a signaling hub and an autophagy adaptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

TBK1 controls autophagosomal engulfment of polyubiquitinated mitochondria through p62/SQSTM1 phosphorylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Neurodegeneration with brain iron accumulation: diagnosis and management

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

A general framework for estimating the relative pathogenicity of human genetic variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Interactions between autophagy receptors and ubiquitin-like proteins form the molecular basis for selective autophagy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

SQSTM1 is a pathogenic target of 5q copy number gains in kidney cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Comparison of solution-based exome capture methods for next generation sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

p62 at the crossroads of autophagy, apoptosis, and cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Localization of atypical protein kinase C isoforms into lysosome-targeted endosomes through interaction with p62.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Interaction of protein kinase C zeta with ZIP, a novel protein kinase C-binding protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Mature-onset obesity and insulin resistance in mice deficient in the signaling adapter p62.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Better Safe than Sorry: Interlinked Feedback Loops for Robust Mitophagy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010644

10.1016/J.AJHG.2016.06.026

3 September 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

1 reference