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Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Genes (Basel)
June 2021
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM_005886.3:c.
View Article and Find Full Text PDFWDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregation.
J Cell Biol
August 2021
Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Mutations in the WDR62 gene cause primary microcephaly, a pathological condition often associated with defective cell division that results in severe brain developmental defects. The precise function and localization of WDR62 within the mitotic spindle is, however, still under debate, as it has been proposed to act either at centrosomes or on the mitotic spindle. Here we explored the cellular functions of WDR62 in human epithelial cell lines using both short-term siRNA protein depletions and long-term CRISPR/Cas9 gene knockouts.
View Article and Find Full Text PDFSubcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.
Neurology
October 2019
From the Department of Clinical Genetics (R.O., G.M.S.M.), Erasmus MC University Medical Center, Rotterdam; Department of Genetics (R.O.), University Medical Center Utrecht, the Netherlands; Departments of Radiology and Biomedical Imaging and Neurology and Neurology (A.J.B.), University of Californi
Objective: To better evaluate the imaging spectrum of subcortical heterotopic gray matter brain malformations (subcortical heterotopia [SUBH]), we systematically reviewed neuroimaging and clinical data of 107 affected individuals.
Methods: SUBH is defined as heterotopic gray matter, located within the white matter between the cortex and lateral ventricles. Four large brain malformation databases were searched for individuals with these malformations; data on imaging, clinical outcomes, and results of molecular testing were systematically reviewed and integrated with all previously published subtypes to create a single classification system.
Crystal Structure of a Heterotetrameric Katanin p60:p80 Complex.
Structure
September 2019
Laboratory of Biomolecular Research, Division of Biology and Chemistry, Paul Scherrer Institut, 5232 Villigen PSI, Switzerland. Electronic address:
Katanin is a microtubule-severing enzyme that is crucial for many cellular processes. Katanin consists of two subunits, p60 and p80, that form a stable complex. The interaction between subunits is mediated by the p60 N-terminal microtubule-interacting and -trafficking domain (p60-MIT) and the p80 C-terminal domain (p80-CTD).
View Article and Find Full Text PDFMutations in the Katnb1 gene cause left-right asymmetry and heart defects.
Dev Dyn
December 2017
The Development and Stem Cells Program of Monash Biomedicine Discovery Institute and The Department of Anatomy and Developmental Biology, Monash University, Melbourne, Australia.
Background: The microtubule-severing protein complex katanin is composed two subunits, the ATPase subunit, KATNA1, and the noncatalytic regulatory subunit, KATNB1. Recently, the Katnb1 gene has been linked to infertility, regulation of centriole and cilia formation in fish and mammals, as well as neocortical brain development. KATNB1 protein is expressed in germ cells in humans and mouse, mitotic/meiotic spindles and cilia, although the full expression pattern of the Katnb1 gene has not been described.
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