Physiological and pathophysiological characteristics of ataxin-3 isoforms.

Alternative Splicing Ataxin-3 / analysis Gene Knockdown Techniques HEK293 Cells Humans Machado-Joseph Disease / genetics Polymorphism, Single Nucleotide Protein Aggregation, Pathological / genetics Protein Interaction Maps Protein Isoforms / analysis Protein Stability Ubiquitin / metabolism
E3 ubiquitin ligase alternative splicing deubiquitylation (deubiquitination) enzyme degradation enzyme kinetics genetic polymorphism neurodegenerative disease polyglutamine disease protein aggregation proteomics

Journal

The Journal of biological chemistry
ISSN: 1083-351X
Titre abrégé: J Biol Chem
Pays: United States
ID NLM: 2985121R

Informations de publication

Date de publication:
11 01 2019
Historique:
received: 10 09 2018
revised: 08 11 2018
pubmed: 21 11 2018
medline: 6 5 2019
entrez: 21 11 2018
Statut: ppublish

Résumé

Ataxin-3 is a deubiquitinating enzyme and the affected protein in the neurodegenerative disorder Machado-Joseph disease (MJD). The

Identifiants

DOI: 10.1074/jbc.RA118.005801 PMID: 30455355 PMC: PMC6333899
pubmed: 30455355
pii: S0021-9258(20)40378-3
doi: 10.1074/jbc.RA118.005801
pmc: PMC6333899
doi:

Substances chimiques

Protein Isoforms 0
Ubiquitin 0
Ataxin-3 EC 3.4.19.12

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

644-661

Informations de copyright

© 2019 Weishäupl et al.

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Auteurs

Daniel Weishäupl (D)

From the Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
the Center for Rare Diseases, 72076 Tübingen, Germany.
the NGS Competence Center, 72076 Tübingen, Germany.
the Graduate Training Center of Neuroscience, 72074 Tübingen, Germany.

Juliane Schneider (J)

From the Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
the Center for Rare Diseases, 72076 Tübingen, Germany.
the NGS Competence Center, 72076 Tübingen, Germany.

Barbara Peixoto Pinheiro (B)

From the Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
the Center for Rare Diseases, 72076 Tübingen, Germany.
the NGS Competence Center, 72076 Tübingen, Germany.

Corinna Ruess (C)

From the Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
the Center for Rare Diseases, 72076 Tübingen, Germany.
the NGS Competence Center, 72076 Tübingen, Germany.

Sandra Maria Dold (SM)

From the Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
the Center for Rare Diseases, 72076 Tübingen, Germany.
the NGS Competence Center, 72076 Tübingen, Germany.

Felix von Zweydorf (F)

the German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany, and.

Christian Johannes Gloeckner (CJ)

the German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany, and.
the Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany.
ORCID: 0000-0001-6494-6944

Jana Schmidt (J)

From the Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
the Center for Rare Diseases, 72076 Tübingen, Germany.
the NGS Competence Center, 72076 Tübingen, Germany.

Olaf Riess (O)

From the Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
the Center for Rare Diseases, 72076 Tübingen, Germany.
the NGS Competence Center, 72076 Tübingen, Germany.

Thorsten Schmidt (T)

From the Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany, thorsten.schmidt@med.uni-tuebingen.de.
the Center for Rare Diseases, 72076 Tübingen, Germany.
the NGS Competence Center, 72076 Tübingen, Germany.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Épissage des ARN › Épissage alternatif › Physiological and pathophysiological...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Ataxines › Ataxine-3 › Physiological and pathophysiological...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Ciblage de gène › Techniques de knock-down de gènes › Physiological and pathophysiological...
questionsmedicales.fr › Cellules › Cellules épithéliales › Cellules HEK293 › Physiological and pathophysiological...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Physiological and pathophysiological...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Dégénérescences spinocérébelleuses › Ataxies spinocérébelleuses › Maladie de Machado-Joseph › Physiological and pathophysiological...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Physiological and pathophysiological...
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Agrégation pathologique de protéines › Physiological and pathophysiological...
questionsmedicales.fr › Métabolisme › Voies et réseaux métaboliques › Cartes d'interactions protéiques › Physiological and pathophysiological...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Isoformes de protéines › Physiological and pathophysiological...
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Stabilité protéique › Physiological and pathophysiological...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Ubiquitines › Ubiquitine › Physiological and pathophysiological...