Article

Microcephaly-associated WDR62 mutations hamper Golgi apparatus-to-spindle pole shuttling in human neural progenitors

2022-07-26

Abstract excerpt

WDR62 is a spindle pole-associated scaffold protein with pleiotropic functions during corticogenesis. Recessive mutations in WDR62 are associated with structural brain abnormalities and account for the second most common cause of autosomal recessive primary microcephaly (MCPH), indicating WDR62 as a critical hub for human brain development. Here, we investigated a C-terminal truncating mutation (D955AfsX112) in WD...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6e6e4713-d79f-5fda-a84d-81c45ed6f4f0
DOI: 10.1101/2022.07.24.501306

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Microcephaly-associated WDR62 mutations hamper Golgi apparatus-to-spindle pole shuttling in human neural progenitorsDOI 10.1101/2022.07.24.501306Read

Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.Semantic proximity Read

Microcephaly-associated protein WDR62 regulates neurogenesis through JNK1 in the developing neocortex.Semantic proximity Read

WDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregationSemantic proximity Read

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.Semantic proximity Read

Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size.Semantic proximity Read

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.Semantic proximity Read

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.Semantic proximity Read

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.Semantic proximity Read

The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical developmentSemantic proximity Read

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.Semantic proximity Read

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.Semantic proximity Read

The microcephaly protein WDR62 regulates cellular purine metabolism through the HSP70/HSP90 chaperone machinerySemantic proximity Read