Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome

Autor: Monica Penon‐Portmann, Sarah K. Westbury, Ling Li, Fred G. Pluthero, Richard J.Y. Liu, Helen H.Y. Yao, Ryan S.Q. Geng, Neil Warner, Aleixo M. Muise, Stephanie Lotz‐Esquivel, Marianela Howell‐Ramirez, Pablo Saborío‐Chacon, Sara Fernández‐Rojas, Manuel Saborio‐Rocafort, Mildred Jiménez‐Hernández, Carolina Wang‐Zuniga, Walter Cartín‐Sánchez, Joseph T. Shieh, Ramses Badilla‐Porras, Walter H.A. Kahr

Publikováno v: Penon-Portmann, M, Westbury, S K, Li, L, Pluthero, F G, Liu, R J Y L, Yao, H H Y, Kahr, W H A & et, A 2022, ' Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome ', Journal of Thrombosis and Haemostasis, vol. 20, no. 7, pp. 1712-1719 . https://doi.org/10.1111/jth.15711

BackgroundPlatelet α-granule biogenesis in precursor megakaryocytes is critically dependent on VPS33B and VPS16B, as demonstrated by the platelet α-granule deficiency seen in the rare multisystem disorder arthrogryposis, renal dysfunction and chole

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https://pubmed.ncbi.nlm.nih.gov/35325493