Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism (Q37736984)

22 August 2017

0 references

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism (English)

1 reference

22 August 2017

1 reference

1 reference

26

1 reference

22 August 2017

Itzia Jimenez-Ferrer

12

0 references

Joanna Siuda

Joanna Siuda

15

0 references

Wolfdieter Springer

Wolfdieter Springer

32

0 references

Fabienne C. Fiesel

Fabienne C Fiesel

2

0 references

Oskar Hansson

Oskar Hansson

13

0 references

Zbigniew K Wszolek

30

Zbigniew K Wszolek

1 reference

22 August 2017

29

Ted M Dawson

1 reference

22 August 2017

31

Owen A Ross

1 reference

22 August 2017

17

Andrzej Friedman

1 reference

22 August 2017

23

Peter A Silburn

1 reference

22 August 2017

Carles Vilariño-Güell

25

Carles Vilariño-Güell

1 reference

22 August 2017

14

Grzegorz Opala

1 reference

22 August 2017

9

Michael G Heckman

1 reference

22 August 2017

28

Valina L Dawson

1 reference

22 August 2017

3

Thomas R Caulfield

1 reference

22 August 2017

5

Maya Ando

1 reference

22 August 2017

8

Kotaro Ogaki

1 reference

22 August 2017

11

Maria Swanberg

1 reference

Magdalena Boczarska-Jedynak

22 August 2017

16

Magdalena Boczarska-Jedynak

1 reference

22 August 2017

18

Dariusz Koziorowski

1 reference

22 August 2017

21

George D Mellick

1 reference

22 August 2017

22

Megha Mohan

1 reference

22 August 2017

24

Yanosh Sanotsky

1 reference

22 August 2017

1

Andreas Puschmann

1 reference

22 August 2017

20

Timothy Lynch

1 reference

22 August 2017

Roman Hudec

4

1 reference

22 August 2017

Dominika Truban

6

1 reference

22 August 2017

Xu Hou

7

1 reference

22 August 2017

Elle D James

10

1 reference

22 August 2017

Jan O Aasly

19

1 reference

22 August 2017

Li Chen

27

1 reference

22 August 2017

language of work or name

English

0 references

publication date

2 November 2016

1 reference

22 August 2017

1 reference

22 August 2017

140

1 reference

22 August 2017

Pt 1

1 reference

22 August 2017

98-117

1 reference

Somatic mtDNA variation is an important component of Parkinson's disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

The PINK1-PARKIN Mitochondrial Ubiquitylation Pathway Drives a Program of OPTN/NDP52 Recruitment and TBK1 Activation to Promote Mitophagy

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

A Ubl/ubiquitin switch in the activation of Parkin

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Activation of the E3 ubiquitin ligase Parkin.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 kinase catalytic activity is regulated by phosphorylation on serines 228 and 402

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Phosphorylation of mitochondrial polyubiquitin by PINK1 promotes Parkin mitochondrial tethering

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Phosphorylation by PINK1 releases the UBL domain and initializes the conformational opening of the E3 ubiquitin ligase Parkin

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Quantitative proteomics reveal a feedforward mechanism for mitochondrial PARKIN translocation and ubiquitin chain synthesis.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

A specific subset of E2 ubiquitin-conjugating enzymes regulate Parkin activation and mitophagy differently

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Ubiquitin is phosphorylated by PINK1 to activate parkin

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 phosphorylates ubiquitin to activate Parkin E3 ubiquitin ligase activity

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Parkin is activated by PINK1-dependent phosphorylation of ubiquitin at Ser65

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 is degraded through the N-end rule pathway

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Structure and Function of Parkin, PINK1, and DJ-1, the Three Musketeers of Neuroprotection

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1-mediated phosphorylation of the Parkin ubiquitin-like domain primes mitochondrial translocation of Parkin and regulates mitophagy

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Template-based protein structure modeling using TASSER(VMT.).

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Examinations of tRNA Range of Motion Using Simulations of Cryo-EM Microscopy and X-Ray Data

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Mitochondrial membrane potential regulates PINK1 import and proteolytic destabilization by PARL

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Genetics of Parkinson disease and essential tremor

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Improving threading algorithms for remote homology modeling by combining fragment and template comparisons

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 is selectively stabilized on impaired mitochondria to activate Parkin

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Improving physical realism, stereochemistry, and side-chain accuracy in homology modeling: Four approaches that performed well in CASP8.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Performance of the Pro-sp3-TASSER server in CASP8

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Protein structure prediction by pro-Sp3-TASSER.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1)

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Analysis of TASSER-based CASP7 protein structure prediction results.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Ab initio protein structure prediction using chunk-TASSER

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 mutation heterozygosity and the risk of Parkinson's disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Iterated profile searches with PSI-BLAST--a tool for discovery in protein databases

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Identification and application of the concepts important for accurate and reliable protein secondary structure prediction

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Errors in protein structures

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Direct conversion of fibroblasts to neurons by reprogramming PTB-regulated microRNA circuits

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

miR-27a and miR-27b regulate autophagic clearance of damaged mitochondria by targeting PTEN-induced putative kinase 1 (PINK1).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Phosphorylated ubiquitin chain is the genuine Parkin receptor.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Disease relevance of phosphorylated ubiquitin (p-S65-Ub)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Mechanism of phospho-ubiquitin-induced PARKIN activation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

A dimeric PINK1-containing complex on depolarized mitochondria stimulates Parkin recruitment.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Disruption of the autoinhibited state primes the E3 ligase parkin for activation and catalysis.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Motion of transfer RNA from the A/T state into the A-site using docking and simulations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Assignment of protonation states in proteins and ligands: combining pKa prediction with hydrogen bonding network optimization

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

SSALN: an alignment algorithm using structure-dependent substitution matrices and gap penalties learned from structurally aligned protein pairs.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

The PDBFINDER database: a summary of PDB, DSSP and HSSP information with added value

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5379862

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW261

On the Role of the Crystal Environment in Determining Protein Side-chain Conformations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW261

A heterozygous effect for PINK1 mutations in Parkinson's disease?

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW261

Research diagnostic criteria for Parkinson's disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27807026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27807026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The genetics of Parkinson's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27807026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWW261

1 reference

22 August 2017

1 reference

22 August 2017

PubMed publication ID

27807026

1 reference