De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple membrane modeling and membrane-independent cellular processes. Here we describe six unrelated individuals with de novo missense variants affecting the ATPase domain of VPS4A, a critical enzyme regulating ESCRT...

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Detalles Bibliográficos
Autores principales: Rodger, Catherine, Flex, Elisabetta, Allison, Rachel J., Sanchis-Juan, Alba, Hasenahuer, Marcia A., Cecchetti, Serena, French, Courtney E., Edgar, James R., Carpentieri, Giovanna, Ciolfi, Andrea, Pantaleoni, Francesca, Bruselles, Alessandro, Onesimo, Roberta, Zampino, Giuseppe, Marcon, Francesca, Siniscalchi, Ester, Lees, Melissa, Krishnakumar, Deepa, McCann, Emma, Yosifova, Dragana, Jarvis, Joanna, Kruer, Michael C., Marks, Warren, Campbell, Jonathan, Allen, Louise E., Gustincich, Stefano, Raymond, F. Lucy, Tartaglia, Marco, Reid, Evan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820634/
https://www.ncbi.nlm.nih.gov/pubmed/33186545
http://dx.doi.org/10.1016/j.ajhg.2020.10.012

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