Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.

Animals Chaperone-Mediated Autophagy Glucosylceramidase / genetics Humans Mice Mutation Parkinson Disease / genetics alpha-Synuclein / genetics

Journal

Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440

Informations de publication

Date de publication:
11 02 2022
Historique:
entrez: 9 2 2022
pubmed: 10 2 2022
medline: 16 4 2022
Statut: ppublish

Résumé

The most common genetic risk factors for Parkinson's disease (PD) are a set of heterozygous mutant (MT) alleles of the

Identifiants

DOI: 10.1126/sciadv.abm6393 PMID: 35138901
pubmed: 35138901
doi: 10.1126/sciadv.abm6393
doi:

Substances chimiques

alpha-Synuclein 0
Glucosylceramidase EC 3.2.1.45

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eabm6393

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS124854
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS095435
Pays : United States
Organisme : NINDS NIH HHS
ID : K08 NS083738
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS118179
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG031782
Pays : United States
Organisme : NIDA NIH HHS
ID : R01 DA007418
Pays : United States

Auteurs

Sheng-Han Kuo (SH)

Department of Neurology, Columbia University , New York, NY 10032, USA.
ORCID: 0000-0002-9412-931X

Inmaculada Tasset (I)

Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Institute for Aging Studies, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Department of Biochemistry and Molecular Biology, Universidad de Cordoba, Cordoba, Spain.
ORCID: 0000-0003-0730-6750

Melody M Cheng (MM)

Department of Neurology, Columbia University , New York, NY 10032, USA.

Antonio Diaz (A)

Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Institute for Aging Studies, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
ORCID: 0000-0001-7871-0828

Ming-Kai Pan (MK)

Department of Neurology, Columbia University , New York, NY 10032, USA.
Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.
ORCID: 0000-0001-5535-2714

Ori J Lieberman (OJ)

Department of Neurology, Columbia University , New York, NY 10032, USA.
ORCID: 0000-0002-0467-0875

Samantha J Hutten (SJ)

Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Institute for Aging Studies, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
ORCID: 0000-0002-8435-744X

Roy N Alcalay (RN)

Department of Neurology, Columbia University , New York, NY 10032, USA.
ORCID: 0000-0002-5717-4875

Sangjun Kim (S)

Department of Neurology, Johns Hopkins University, Baltimore, MD 21205, USA.
Neurodegeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University, Baltimore, MD 21218, USA.
ORCID: 0000-0003-3052-3163

Pilar Ximénez-Embún (P)

Proteomics Unit, Spanish National Cancer Research Centre (CNIO), ProteoRed-ISCIII, Madrid, Spain.
ORCID: 0000-0002-2582-9443

Li Fan (L)

Helen and Robert Appel Alzheimer's Disease Research Institute, Weill Cornell Medicine, New York, NY 10065, USA.
ORCID: 0000-0003-1780-6919

Donghoon Kim (D)

Department of Neurology, Johns Hopkins University, Baltimore, MD 21205, USA.
Neurodegeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University, Baltimore, MD 21218, USA.

Han Seok Ko (HS)

Department of Neurology, Johns Hopkins University, Baltimore, MD 21205, USA.
Neurodegeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University, Baltimore, MD 21218, USA.
ORCID: 0000-0002-0864-5239

Talene Yacoubian (T)

Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
ORCID: 0000-0003-2227-7310

Ellen Kanter (E)

Departments of Psychiatry and Pharmacology, Columbia University , New York, NY 10032, USA.

Ling Liu (L)

Department of Neurology, Columbia University , New York, NY 10032, USA.

Guomei Tang (G)

Department of Neurology, Columbia University , New York, NY 10032, USA.

Javier Muñoz (J)

Proteomics Unit, Spanish National Cancer Research Centre (CNIO), ProteoRed-ISCIII, Madrid, Spain.
Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.
Ikerbasque, Basque Foundation for Science, Bilbao, Spain.
ORCID: 0000-0003-3288-3496

Sergio Pablo Sardi (SP)

Sanofi Genzyme, Boston, MA 02134, USA.

Aiqun Li (A)

Department of Neurology, Johns Hopkins University, Baltimore, MD 21205, USA.
ORCID: 0000-0003-1485-5352

Li Gan (L)

Helen and Robert Appel Alzheimer's Disease Research Institute, Weill Cornell Medicine, New York, NY 10065, USA.
ORCID: 0000-0003-4600-275X

Ana Maria Cuervo (AM)

Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Institute for Aging Studies, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
ORCID: 0000-0002-0771-700X

David Sulzer (D)

Department of Neurology, Columbia University , New York, NY 10032, USA.
Departments of Psychiatry and Pharmacology, Columbia University , New York, NY 10032, USA.
Department of Molecular Therapeutics, New York State Psychiatric Institute, New York, NY 10032, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Mutant glucocerebrosidase impairs α-synuclein...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Autophagie › Autophagie médiée par les chaperonnes › Mutant glucocerebrosidase impairs α-synuclein...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Glucosidases › Glucosylceramidase › Mutant glucocerebrosidase impairs α-synuclein...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Mutant glucocerebrosidase impairs α-synuclein...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Mutant glucocerebrosidase impairs α-synuclein...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutant glucocerebrosidase impairs α-synuclein...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Maladie de Parkinson › Mutant glucocerebrosidase impairs α-synuclein...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines associées à la maladie de Parkinson › alpha-Synucléine › Mutant glucocerebrosidase impairs α-synuclein...