Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis.
Animals
Blood Platelets
/ metabolism
Disease Models, Animal
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
Hermanski-Pudlak Syndrome
/ diagnosis
Humans
Mice
Mice, Knockout
Mutation
Phenotype
Platelet Count
Platelet Function Tests
Rats
Thrombosis
/ diagnosis
rab GTP-Binding Proteins
/ genetics
Journal
Blood advances
ISSN: 2473-9537
Titre abrégé: Blood Adv
Pays: United States
ID NLM: 101698425
Informations de publication
Date de publication:
13 08 2019
13 08 2019
Historique:
received:
08
01
2019
accepted:
01
07
2019
entrez:
11
8
2019
pubmed:
11
8
2019
medline:
1
8
2020
Statut:
ppublish
Résumé
The biogenesis of lysosome related organelles is defective in Hermansky-Pudlak syndrome (HPS), a disorder characterized by oculocutaneous albinism and platelet dense granule (DG) defects. The first animal model of HPS was the fawn-hooded rat, harboring a spontaneous mutation inactivating the small guanosine triphosphatase
Identifiants
pubmed: 31399401
pii: bloodadvances.2019031286
doi: 10.1182/bloodadvances.2019031286
pmc: PMC6693013
doi:
Substances chimiques
Rab32 protein, mouse
EC 3.6.1.-
Rab38 protein, mouse
EC 3.6.1.-
rab GTP-Binding Proteins
EC 3.6.5.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2368-2380Informations de copyright
© 2019 by The American Society of Hematology.
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