A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Article Endocrinology & Metabolism

Specific Deletion of CASK in Pancreatic β-Cells Affects Glucose Homeostasis and Improves Insulin Sensitivity in Obese Mice by Reducing Hyperinsulinemia

Xingjing Liu et al.

Summary: CASK plays a role in insulin vesicle secretion and has an impact on the development of type 2 diabetes and insulin resistance.

DIABETES (2022)

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Article Biochemistry & Molecular Biology

Nonsense-Mediated mRNA Decay, a Finely Regulated Mechanism

Fabrice Lejeune

Summary: Nonsense-mediated mRNA decay (NMD) is a mechanism for rapidly eliminating mRNAs with premature termination codons and also regulates multiple genes. Researchers have discovered that NMD must be regulated to express genes that are normally repressed by NMD under specific physiological conditions, so a comprehensive understanding of NMD regulation is important for therapeutic purposes.

BIOMEDICINES (2022)

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Review Genetics & Heredity

Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm

Lisa Backwell et al.

Summary: Most disease-causing mutations occur in protein-coding regions of DNA, and these mutations can have non-loss-of-function effects via various molecular mechanisms, which can be understood by considering interactions with other molecules.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2022)

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Review Pediatrics

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review

Ying Zhang et al.

Summary: This study reported a de novo variant in the CASK gene in a Chinese male newborn, and provided a detailed description of all the cases described in the literature. CASK variants cause a variety of clinical phenotypes, and the diagnosis is challenging due to the lack of typical clinical symptoms. Genetic testing should be performed early if this disease is suspected.

ITALIAN JOURNAL OF PEDIATRICS (2022)

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Article Biochemistry & Molecular Biology

Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization

Yingzhou Edward Pan et al.

Summary: Mutations in the X-linked gene coding for CASK are associated with severe neurological disorders, and missense mutations can affect the interactions between CASK and other proteins, leading to altered patient phenotypes.

JOURNAL OF NEUROCHEMISTRY (2021)

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Article Clinical Neurology

CASK related disorder: Epilepsy and developmental outcome

Thea Giacomini et al.

Summary: The study found that epilepsy is a common comorbidity in patients with CASK pathogenic variants, with a high incidence of spasms and drug resistance. The degree of developmental delay does not seem to be more severe in patients with epilepsy, but feeding difficulties are more frequent in patients with epilepsy.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2021)

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Review Cell Biology