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

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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Main Authors: 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
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:JIMD Reports
Subjects:
hypotonia
mutation
neurological syndrome
SLC30A5
ZnT5
Online Access:https://doi.org/10.1002/jmd2.12465
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https://doi.org/10.1002/jmd2.12465

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