Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.

Gaucher Disease / complications Glucosylceramidase / genetics Humans Infant Lewy Body Disease / genetics Neuropathology Parkinsonian Disorders / pathology
Gaucher disease Lewy Body disorder Lewy body Parkinson disease glucocerebrosidase lysosomal storage disorder neuropathology

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
23 May 2022
Historique:
received: 03 05 2022
revised: 15 05 2022
accepted: 16 05 2022
entrez: 28 5 2022
pubmed: 29 5 2022
medline: 1 6 2022
Statut: epublish

Résumé

Deficient acid β-glucocerebrosidase activity due to biallelic mutations in

Identifiants

DOI: 10.3390/ijms23105842 PMID: 35628652 PMC: PMC9147326
pubmed: 35628652
pii: ijms23105842
doi: 10.3390/ijms23105842
pmc: PMC9147326
pii:
doi:

Substances chimiques

Glucosylceramidase EC 3.2.1.45

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NIH HHS
ID : IRP
Pays : United States

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Auteurs

Makaila L Furderer (ML)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35A Convent Drive-Room 1E623, Bethesda, MD 20892-3708, USA.
ORCID: 0000-0002-4328-6657

Ellen Hertz (E)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35A Convent Drive-Room 1E623, Bethesda, MD 20892-3708, USA.
ORCID: 0000-0002-0916-3557

Grisel J Lopez (GJ)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35A Convent Drive-Room 1E623, Bethesda, MD 20892-3708, USA.

Ellen Sidransky (E)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35A Convent Drive-Room 1E623, Bethesda, MD 20892-3708, USA.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Maladie de Gaucher › Neuropathological Features of Gaucher Disease...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Glucosidases › Glucosylceramidase › Neuropathological Features of Gaucher Disease...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Neuropathological Features of Gaucher Disease...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Neuropathological Features of Gaucher Disease...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Maladie à corps de Lewy › Neuropathological Features of Gaucher Disease...
questionsmedicales.fr › Professions de santé › Médecine › Anatomopathologie › Neuropathologie › Neuropathological Features of Gaucher Disease...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Troubles de la motricité › Syndromes parkinsoniens › Neuropathological Features of Gaucher Disease...