Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.

Humans Fibroblasts / metabolism Parkinson Disease / genetics Ubiquitin-Protein Ligases / genetics Mitophagy / genetics Neurons / metabolism Mitochondria / metabolism Brain / metabolism Mutation / genetics Protein Kinases / metabolism Female GTP Phosphohydrolases / metabolism Mitochondrial Proteins / genetics Male
PINK1 PRKN Parkinson disease mitophagy parkin ubiquitin

Journal

Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052

Informations de publication

Date de publication:
13 Sep 2024
Historique:
received: 15 07 2024
revised: 03 09 2024
accepted: 05 09 2024
medline: 27 9 2024
pubmed: 27 9 2024
entrez: 27 9 2024
Statut: epublish

Résumé

Mutations in the

Identifiants

DOI: 10.3390/cells13181540 PMID: 39329724
pubmed: 39329724
pii: cells13181540
doi: 10.3390/cells13181540
pii:
doi:

Substances chimiques

parkin protein EC 2.3.2.27
Ubiquitin-Protein Ligases EC 2.3.2.27
PTEN-induced putative kinase EC 2.7.11.1
MFN2 protein, human EC 3.6.1.-
Protein Kinases EC 2.7.-
GTP Phosphohydrolases EC 3.6.1.-
Mitochondrial Proteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NINDS NIH HHS
ID : RF1 NS085070
Pays : United States

Auteurs

Bernardo A Bustillos (BA)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.

Liam T Cocker (LT)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.
ORCID: 0009-0009-6704-2284

Mathew A Coban (MA)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.
ORCID: 0000-0001-6396-6759

Caleb A Weber (CA)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.

Jenny M Bredenberg (JM)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.

Paige K Boneski (PK)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.

Joanna Siuda (J)

Department of Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland.
ORCID: 0000-0002-0340-660X

Jaroslaw Slawek (J)

Department of Neurology, St. Adalbert Hospital, 80-462 Gdansk, Poland.
Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-210 Gdansk, Poland.

Andreas Puschmann (A)

Department of Clinical Sciences, Neurology, Lund University, 22100 Lund, Sweden.
Department of Neurology, Skane University Hospital, 22185 Lund, Sweden.
ORCID: 0000-0002-3201-8198

Derek P Narendra (DP)

Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD 20892, USA.
ORCID: 0000-0002-8696-9108

Neill R Graff-Radford (NR)

Mayo Clinic, Department of Neurology, Jacksonville, FL 32224, USA.

Zbigniew K Wszolek (ZK)

Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA.
ORCID: 0000-0001-5487-1053

Dennis W Dickson (DW)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.
Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA.

Owen A Ross (OA)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.
Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA.

Thomas R Caulfield (TR)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.
Mayo Clinic, Department of Neurosurgery, Jacksonville, FL 32224, USA.
Mayo Clinic, Department of Cancer Biology, Jacksonville, FL 32224, USA.
Mayo Clinic, Department of Biochemistry & Molecular Biology, Jacksonville, FL 32224, USA.
Mayo Clinic, Department of Computational Biology, Jacksonville, FL 32224, USA.
ORCID: 0000-0002-1055-3069

Wolfdieter Springer (W)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.
Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA.
ORCID: 0000-0002-1178-3149

Fabienne C Fiesel (FC)

Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.
Mayo Clinic, Graduate School of Biomedical, Sciences Neuroscience PhD Program, Jacksonville, FL 32224, USA.
ORCID: 0000-0002-1919-9676

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Structural and Functional Characterization of...
questionsmedicales.fr › Cellules › Cellules du tissu conjonctif › Fibroblastes › Structural and Functional Characterization of...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Maladie de Parkinson › Structural and Functional Characterization of...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Ligases › Ubiquitin-protein ligase complexes › Ubiquitin-protein ligases › Structural and Functional Characterization of...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Renouvellement des mitochondries › Dégradation des mitochondries › Structural and Functional Characterization of...
questionsmedicales.fr › Cellules › Neurones › Structural and Functional Characterization of...
questionsmedicales.fr › Cellules › Structures cellulaires › Fractions subcellulaires › Mitochondries › Structural and Functional Characterization of...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Structural and Functional Characterization of...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Structural and Functional Characterization of...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Phosphotransferases › Phosphotransferases (Alcohol Group Acceptor) › Protein kinases › Structural and Functional Characterization of...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Acid anhydride hydrolases › dGTPases › Structural and Functional Characterization of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mitochondriales › Structural and Functional Characterization of...