(Q41301586)

29 September 2017

The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability (English)

1 reference

29 September 2017

protein ubiquitination

1 reference

9

Edward A Fon

1 reference

29 September 2017

Thomas M Durcan

1

1 reference

29 September 2017

Maria Kontogiannea

2

1 reference

29 September 2017

Thorhildur Thorarinsdottir

3

1 reference

29 September 2017

Lara Fallon

4

1 reference

29 September 2017

Aislinn J Williams

5

1 reference

29 September 2017

Ana Djarmati

6

1 reference

29 September 2017

Tadeu Fantaneanu

7

1 reference

29 September 2017

Henry L Paulson

8

1 reference

29 September 2017

11 October 2010

1 reference

29 September 2017

Human Molecular Genetics

1 reference

29 September 2017

20

1 reference

29 September 2017

1

1 reference

29 September 2017

141-154

1 reference

Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Neurogranin enhances synaptic strength through its interaction with calmodulin

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Common variants on chromosome 6p22.1 are associated with schizophrenia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Common variants conferring risk of schizophrenia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Psychosis genetics: modeling the relationship between schizophrenia, bipolar disorder, and mixed (or "schizoaffective") psychoses

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Localization and targeting of voltage-dependent ion channels in mammalian central neurons.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Identification of loci associated with schizophrenia by genome-wide association and follow-up

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Estimation of significance thresholds for genomewide association scans

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

The Heritability of Bipolar Affective Disorder and the Genetic Relationship to Unipolar Depression

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Severe mental disorders in offspring with 2 psychiatrically ill parents.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

19 August 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Trinucleotide Repeat Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

A ubiquitin-interacting motif conserved in components of the proteasomal and lysosomal protein degradation systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Ubiquitin-mediated sequestration of normal cellular proteins into polyglutamine aggregates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Deubiquitinating function of ataxin-3: insights from the solution structure of the Josephin domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The solution structure of the Josephin domain of ataxin-3: structural determinants for molecular recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Proteasome-independent functions of ubiquitin in endocytosis and signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Itch/AIP4 mediates Deltex degradation through the formation of K29-linked polyubiquitin chains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Lysosomal localization of ubiquitinated Jun requires multiple determinants in a lysine-27-linked polyubiquitin conjugate

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Lysine 63-linked ubiquitination promotes the formation and autophagic clearance of protein inclusions associated with neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

A genomic and functional inventory of deubiquitinating enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Genetics of Parkinson disease: paradigm shifts and future prospects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Nitrosative stress linked to sporadic Parkinson's disease: S-nitrosylation of parkin regulates its E3 ubiquitin ligase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Dopamine covalently modifies and functionally inactivates parkin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Identification of a novel Zn2+-binding domain in the autosomal recessive juvenile Parkinson-related E3 ligase parkin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The ubiquitin E3 ligase MARCH7 is differentially regulated by the deubiquitylating enzymes USP7 and USP9X

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

A dynamic role of HAUSP in the p53-Mdm2 pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

USP19 deubiquitinating enzyme supports cell proliferation by stabilizing KPC1, a ubiquitin ligase for p27Kip1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Structure and Ubiquitin Binding of the Ubiquitin-interacting Motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Cellular turnover of the polyglutamine disease protein ataxin-3 is regulated by its catalytic activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Inactivation of HAUSP in vivo modulates p53 function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The ubiquitin ligase itch is auto-ubiquitylated in vivo and in vitro but is protected from degradation by interacting with the deubiquitylating enzyme FAM/USP9X

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Proteotoxic stress increases nuclear localization of ataxin-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The UBL domain of PLIC-1 regulates aggresome formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Parkin binds the Rpn10 subunit of 26S proteasomes through its ubiquitin-like domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Differential interaction of the E3 ligase parkin with the proteasomal subunit S5a and the endocytic protein Eps15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Poly-ubiquitin Binding by the Polyglutamine Disease Protein Ataxin-3 Links Its Normal Function to Protein Surveillance Pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Stabilization of the E3 ubiquitin ligase Nrdp1 by the deubiquitinating enzyme USP8

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and beta-catenin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

RING finger ubiquitin-protein isopeptide ligase Nrdp1/FLRF regulates parkin stability and activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

BRCA1 : BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Site-specific Lys-63-linked tumor necrosis factor receptor-associated factor 6 auto-ubiquitination is a critical determinant of I kappa B kinase activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The ubiquitin binding region of the Smurf HECT domain facilitates polyubiquitylation and binding of ubiquitylated substrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Phosphorylation of Parkin by the cyclin-dependent kinase 5 at the linker region modulates its ubiquitin-ligase activity and aggregation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Parkin phosphorylation and modulation of its E3 ubiquitin ligase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Harnessing chaperone-mediated autophagy for the selective degradation of mutant huntingtin protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Decreased antioxidant enzyme activity and increased mitochondrial DNA damage in cellular models of Machado-Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Study of subcellular localization and proteolysis of ataxin-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

The tyrosine kinase negative regulator c-Cbl as a RING-type, E2-dependent ubiquitin-protein ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ452

Design of Case-controls Studies with Unscreened Controls

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3005906

1 December 2018

Identifiers

DOI

10.1093/HMG/DDQ452

1 reference

29 September 2017

1 reference

29 September 2017

1 reference