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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Stefan T. Arold

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Open access Sep 2026

SCRIB inhibits PP1 phosphatase activity without blocking or structurally altering its active site.

Protein phosphorylation is a fundamental mechanism regulating cellular function, governed by the opposing actions of kinases and phosphatases. The substrate specificity and catalytic activity of protein phosphatase 1 (PP1), a major serine/threonine phosphatase, results from its interactions with more than 200 regulator...

Siba Alharbi, Amit Kumawat, Brandon Huntington et al. · 0 citations
Case report Open access Aug 2026

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization

The molecular and functional spectrum of SLC25A4-associated disease is expanded and may inform clinical practice, including genetic interventions such as preimplantation genetic diagnosis, premarital genetic screening, targeted genetic counseling, and cascade testing of at-risk family members.

Mazhor Aldosary, Hanan Alqudairy, Nourah Alshalan et al. · 0 citations
Case report Open access Aug 2026

Biallelic EZH1 Nonsense Novel Variant in Two Siblings with Neurodevelopmental Disorder and Central Precocious Puberty: A Case Report from a Consanguineous Saudi Family

This study expands the clinical, genetic, and molecular spectrum of EZH1-associated neurodevelopmental disorders by demonstrating that reduced EZH1 expression is consistent with a loss-of-function disease mechanism.

Mohamed Baity, Khalid K Alharbi, Eman Alobeid et al. · 0 citations

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