Functional Analysis of Human

Animals Gaucher Disease / genetics Glucosylceramidase / genetics Humans Mutation, Missense / genetics Phenotype Lysosomes / metabolism Drosophila melanogaster / genetics Disease Models, Animal Unfolded Protein Response / genetics Drosophila / genetics
Drosophila GBA1 Gaucher disease acid-β-glucocerebrosidase ambroxol glucosylceramide

Journal

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

Informations de publication

Date de publication:
27 Sep 2024
Historique:
received: 31 07 2024
revised: 19 09 2024
accepted: 23 09 2024
medline: 15 10 2024
pubmed: 15 10 2024
entrez: 15 10 2024
Statut: epublish

Résumé

The human

Identifiants

DOI: 10.3390/cells13191619 PMID: 39404383
pubmed: 39404383
pii: cells13191619
doi: 10.3390/cells13191619
pii:
doi:

Substances chimiques

Glucosylceramidase EC 3.2.1.45
GBA protein, human EC 3.2.1.45

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Israel science Foundation
ID : 1300/13

Auteurs

Aparna Kuppuramalingam (A)

Shmunis School of Biomedicine and Cancer Research, Faculty of Life Sciences, Tel Aviv University, Tel Aviv 69978, Israel.
ORCID: 0000-0002-9481-4480

Or Cabasso (O)

Shmunis School of Biomedicine and Cancer Research, Faculty of Life Sciences, Tel Aviv University, Tel Aviv 69978, Israel.

Mia Horowitz (M)

Shmunis School of Biomedicine and Cancer Research, Faculty of Life Sciences, Tel Aviv University, Tel Aviv 69978, Israel.
Sagol School of Neuroscience, Faculty of Life Sciences, Tel Aviv University, Tel Aviv 69978, Israel.
ORCID: 0000-0003-3142-1126

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Functional Analysis of Human
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Maladie de Gaucher › Functional Analysis of Human
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Glucosidases › Glucosylceramidase › Functional Analysis of Human
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Functional Analysis of Human
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Functional Analysis of Human
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Functional Analysis of Human
questionsmedicales.fr › Cellules › Structures cellulaires › Espace intracellulaire › Cytoplasme › Structures cytoplasmiques › Organites › Vésicules cytoplasmiques › Lysosomes › Functional Analysis of Human
questionsmedicales.fr › Eucaryotes › Animaux › Invertébrés › Arthropodes › Insectes › Pterygota › Neoptera › Holometabola › Diptera › Drosophilidae › Drosophila › Drosophila melanogaster › Functional Analysis of Human
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Functional Analysis of Human
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Modification traductionnelle des protéines › Maturation post-traductionnelle des protéines › Réponse aux protéines mal repliées › Functional Analysis of Human
questionsmedicales.fr › Eucaryotes › Animaux › Invertébrés › Arthropodes › Insectes › Pterygota › Neoptera › Holometabola › Diptera › Drosophilidae › Drosophila › Functional Analysis of Human