Cerebral Cortical-Like Organoid Model of PPP2R5D Induced Genetic Intellectual Disability Displays Variant-Specific Disease Severity Phenotype

Abstract excerpt

Jordan’s Syndrome (JS) is a rare, neurodevelopmental disorder caused by de novo missense mutations in protein phosphatase 2 regulatory subunit B’delta ( PPP2R5D ). JS is characterized by severe neurological impairments starting in early life. PPP2R5D encodes for B56δ, one of the regulatory subunits of protein phosphatase 2A (PP2A). PP2A is a heterotrimeric protein serine/threonine phosphatase that is highly expr...

Topics

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• Cell Cycle Checkpoints
• Developmental Disabilities
• Disease Models, Animal
• Intellectual Disability
• Neurons
• Polymorphism, Single Nucleotide
• Protein Phosphatase 2
• Protein Subunits

Identifiers and source

Literature Corpus work

beb6c995-4364-57f9-9932-176285abbe69

DOI

10.64898/2026.05.26.728012