Associated Papers
Impaired biogenesis of renin granules in juxtaglomerular cells of Vps33a (D251E) mutant mice.
Wang H et al.
Journal of Cell Science, 2025
Molecular basis of platelet granule defects.
Yao HHY et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?
Cyske Z et al.
International Journal of Molecular Sciences, 2024
New insights into the pathogenesis of Hermansky-Pudlak syndrome.
Li W et al.
Pigment Cell & Melanoma Research, 2022
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K et al.
Embo Molecular Medicine, 2021
33938619 (PubMed )
Supplement: EMMM-13-e13376-s001.pdf
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE et al.
Brain : a Journal of Neurology, 2021
33764426 (PubMed )
Supplement: awaa459_supplementary_data.zip › brain-2020-00832-File005.pdf
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules.
Yuan Y et al.
Blood, 2021
Mucopolysaccharidosis-Plus Syndrome.
Vasilev F et al.
International Journal of Molecular Sciences, 2020
The lysosomal disease caused by mutant VPS33A.
Pavlova EV et al.
Human Molecular Genetics, 2019
The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.
Bowman SL et al.
Traffic (copenhagen, Denmark), 2019
CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease.
van der Beek J et al.
Journal of Cell Science, 2019
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Kondo H et al.
Human Molecular Genetics, 2017
Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33A(D251E) mutation.
Zhen Y et al.
Autophagy, 2015
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