A primary microcephaly-associated sas-6 mutation perturbs centrosome duplication, dendrite morphogenesis, and ciliogenesis in Caenorhabditis elegans

The human SASS6(I62T) missense mutation has been linked with the incidence of primary microcephaly in a Pakistani family, although the mechanisms by which this mutation causes disease remain unclear. The SASS6(I62T) mutation corresponds to SAS-6(L69T) in Caenorhabditis elegans. Given that SAS-6 is h...

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Detalles Bibliográficos
Autores principales: Bergwell, Mary, Smith, Amy, Smith, Ellie, Dierlam, Carter, Duran, Ramon, Haastrup, Erin, Napier-Jameson, Rebekah, Seidel, Rory, Potter, William, Norris, Adam, Iyer, Jyoti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Genetic Models of Rare Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411591/
https://www.ncbi.nlm.nih.gov/pubmed/37279547
http://dx.doi.org/10.1093/genetics/iyad105

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