Article

Lack of adaptation to centriolar defects leads to p53-independent microcephaly in the absence of Cep135

2020-05-08

Abstract excerpt

Autosomal Recessive Primary Microcephaly (MCPH) is a rare disease associated to proteins involved in centrosomal and spindle dynamics including Cep135 (MCPH8). Although Cep135 has been associated to centriolar assembly, the mechanisms associated to the pathogenesis underlying MCPH8 mutations are unclear. By using a series of CRISPR/Cas9-edited murine Cep135 alleles, we report here that lack of Cep135 results in...

Topics

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

Identifiers and source

Literature Corpus work: 2d0d479d-dd98-5ac4-bbe4-f2e66fdd81b1
DOI: 10.1101/2020.05.07.082032

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Lack of adaptation to centriolar defects leads to p53-independent microcephaly in the absence of Cep135DOI 10.1101/2020.05.07.082032Read

Deficient adaptation to centrosome duplication defects in neural progenitors causes microcephaly and subcortical heterotopias.Semantic proximity Read

The Genetics of Primary Microcephaly.Semantic proximity Read

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.Semantic proximity Read

Molecular genetics of human primary microcephaly: an overview.Semantic proximity Read

The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo.Semantic proximity Read

Dissecting the Genetic and Etiological Causes of Primary MicrocephalySemantic proximity Read

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)Semantic proximity Read

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.Semantic proximity Read

Multifaceted Microcephaly-Related Gene MCPH1.Semantic proximity Read

Separation-of-function MCPH-associated mutations in CPAP affect centriole number and length.Semantic proximity Read

Primary microcephaly: do all roads lead to Rome?Semantic proximity Read

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.Semantic proximity Read