Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

PPP2R5E: New gene potentially involved in specific learning disorders and myopathy.

Gene - 15 Jan 2025

Musumeci Antonino, Vinci Mirella, Verbinnen Iris, Treccarichi Simone, Nigliato Eleonora, Chiavetta Valeria, Greco Donatella, Vitello Girolamo Aurelio, Federico Concetta, Janssens Veerle, Saccone Salvatore, Calì Francesco

Abstract excerpt

Protein phosphatase 2A (PP2A) is a family of multifunctional enzymatic complexes crucial for cellular signalling, playing a pivotal role in brain function and development. Mutations in specific genes encoding PP2A complexes have been associated with neurodevelopmental disorders with hypotonia and high risk of seizures. In the current work, we present an individual with specific learning problems, motor...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exome Sequencing
Share to Learning Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Diseases

Share to Mutation

Share to Protein Phosphatase 2

Source

Identifiers

PMID: 39284558
DOI: 10.1016/j.gene.2024.148945

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PPP2R5E: New gene potentially involved in specific learning disorders and myopathy.PMID 39284558Read ↗

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.Semantic proximity Read ↗

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.Semantic proximity Read ↗

PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder.Semantic proximity Read ↗

PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?Semantic proximity Read ↗

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.Semantic proximity Read ↗

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.Semantic proximity Read ↗

Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.Semantic proximity Read ↗

Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype-Phenotype Analysis in Neurodevelopmentally Delayed Patients.Semantic proximity Read ↗

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.Semantic proximity Read ↗

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.Semantic proximity Read ↗

Genotype and phenotype correlation of PHACTR1-related neurological disorders.Semantic proximity Read ↗

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.