Article
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Molecular neurobiology - 1 May 2023
Hentschel Andreas, Meyer Nancy, Kohlschmidt Nicolai, Groß Claudia, Sickmann Albert, Schara-Schmidt Ulrike, Förster Fabian, Töpf Ana, Christiansen Jon, Horvath Rita, Vorgerd Matthias, Thompson Rachel, Polavarapu Kiran, Lochmüller Hanns, Preusse Corinna, Hannappel Luis, Schänzer Anne, Grüneboom Anika, Gangfuß Andrea, Roos Andreas
Abstract excerpt
PPP1R21 acts as a co-factor for protein phosphatase 1 (PP1), an important serine/threonine phosphatase known to be essential for cell division, control of glycogen metabolism, protein synthesis, and muscle contractility. Bi-allelic pathogenic variants in PPP1R21 were linked to a neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA) with pediatric onset. Functional...
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