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

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 E...

Full description

Bibliographic Details
Main Authors: Katrin Meindl, Naomi Issler, Sara Afonso, Alberto Cebrian-Serrano, Karin Müller, Christina Sterner, Helga Othmen, Ines Tegtmeier, Ralph Witzgall, Enriko Klootwijk, Benjamin Davies, Robert Kleta, Richard Warth
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
testis
endocytosis
retromer
genetic disease
sperm
ciliogenesis
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2023.1240558/full

Internet

https://www.frontiersin.org/articles/10.3389/fcell.2023.1240558/full

Similar Items