Article
Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca2+ and Voltage-Activated K+ Channel Activity in Human Insulin Secretion.
Current issues in molecular biology - 31 Aug 2021
Mameli Chiara, Cazzola Roberta, Spaccini Luigina, Calcaterra Valeria, Macedoni Maddalena, La Verde Paola Azzurra, D'Auria Enza, Verduci Elvira, Lista Gianluca, Zuccotti Gian Vincenzo
Abstract excerpt
Liang-Wang syndrome (LIWAS) is a polymalformative syndrome first described in 2019 caused by heterozygous mutation of the KCNMA1 gene encoding the Ca2+ and voltage-activated K+ channel (BKC). The KCNMA1 variant p.(Gly356Arg) abolishes the function of BKC and blocks the generation of K+ current. The phenotype of this variant includes developmental delay, and visceral and connective tissue malformations. So far,...
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