Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome
Author:
Funder
Institute of Circulatory and Respiratory Health
Publisher
Elsevier BV
Subject
Hematology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.15711
Reference38 articles.
1. Platelet alpha‐granules: basic biology and clinical correlates;Blair;Blood Rev,2009
2. alpha‐granule biogenesis: from disease to discovery;Chen;Platelets,2017
3. A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease;Nezelof;J Pediatr,1979
4. Mutations in VPS33B, encoding a regulator of SNARE‐dependent membrane fusion, cause arthrogryposis‐renal dysfunction‐cholestasis (ARC) syndrome;Gissen;Nat Genet,2004
5. Clinical and molecular genetic features of ARC syndrome;Gissen;Hum Genet,2006
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1. The Sec1–Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B;Journal of Biological Chemistry;2023-06
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