Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter

Abstract The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the extracellular space or intracellular organel...

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Autores principales:	Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2025-01-01
Colección:	JIMD Reports
Materias:	hypotonia mutation neurological syndrome SLC30A5 ZnT5
Acceso en línea:	https://doi.org/10.1002/jmd2.12465
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