A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility

Normal function of the C-terminal Eps15 homology domain-containing protein 1 (EHD1) has previously been associated with endocytic vesicle trafficking, shaping of intracellular membranes, and ciliogenesis. We recently identified an autosomal recessive missense mutation c.1192C>T (p.R398W) of EHD1...

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Detalles Bibliográficos
Autores principales: Meindl, Katrin, Issler, Naomi, Afonso, Sara, Cebrian-Serrano, Alberto, Müller, Karin, Sterner, Christina, Othmen, Helga, Tegtmeier, Ines, Witzgall, Ralph, Klootwijk, Enriko, Davies, Benjamin, Kleta, Robert, Warth, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600459/
https://www.ncbi.nlm.nih.gov/pubmed/37900275
http://dx.doi.org/10.3389/fcell.2023.1240558

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