Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

doi:10.1093/brain/awac364

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

Community

Back to search

Article

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Brain : a journal of neurology - 19 Apr 2023

AlAbdi Lama, Desbois Muriel, Rusnac Domniţa-Valeria, Sulaiman Raashda A, Rosenfeld Jill A, Lalani Seema, Murdock David R, Burrage Lindsay C, Billie Au Ping Yee, Towner Shelley, Wilson William G, Wong Lawrence, Brunet Theresa, Strobl-Wildemann Gertrud, Burton Jennifer E, Hoganson George, McWalter Kirsty, Begtrup Amber, Zarate Yuri A, Christensen Elyse L, Opperman Karla J, Giles Andrew C, Helaby Rana, Kania Artur, Zheng Ning, Grill Brock, Alkuraya Fowzan S

Abstract excerpt

The corpus callosum is a bundle of axon fibres that connects the two hemispheres of the brain. Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a core phenotype offer a valuable window into pathology derived from abnormal axon development. Here, we describe a cohort of eight patients with a neurodevelopmental disorder characterized by a range of deficits including corpus callosum...

Read the complete abstract on PubMed

Topics

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

Share to Agenesis of Corpus Callosum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Caenorhabditis elegans Proteins

Share to Corpus Callosum

Share to Guanine Nucleotide Exchange Factors

Share to Intellectual Disability

Share to Ligases

Share to Ubiquitin-Protein Ligases

Share to Ubiquitins

Source

Open in PubMed Open full text

Identifiers

PMID: 36200388
DOI: 10.1093/brain/awac364
PMCID: PMC10319777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.PMID 36200388Read ↗

Systematic analyses of rpm-1 suppressors reveal roles for ESS-2 in mRNA splicing in Caenorhabditis elegans.Semantic proximity Read ↗

Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hubSemantic proximity Read ↗

DPYSL2 / CRMP2 isoform B knockout in human iPSC-derived glutamatergic neurons confirms its role in mTOR signaling and neurodevelopmental disordersSemantic proximity Read ↗

C. elegans PVD Neurons: A Platform for Functionally Validating and Characterizing Neuropsychiatric Risk GenesSemantic proximity Read ↗

rpm-1, a conserved neuronal gene that regulates targeting and synaptogenesis in C. elegans.Semantic proximity Read ↗

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.Semantic proximity Read ↗

A recessive Trim2 mutation causes an axonal neuropathy in mice.Semantic proximity Read ↗

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.Semantic proximity Read ↗

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.Semantic proximity Read ↗

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.Semantic proximity Read ↗

Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.Semantic proximity Read ↗

Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology.Semantic proximity Read ↗

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