Elma El Khouri

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

Charles Coutton, Alexandra Vargas, Amir Amiri‐Yekta et al. · Nature Communications · 2018 · 233 citations · Full text

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia

Patrick Lorès, Charles Coutton, Elma El Khouri et al. · Human Molecular Genetics · 2018 · 123 citations · Full text

Spermatogenesis, Motile Cilia, Genetics +21

RNF185 Is a Novel E3 Ligase of Endoplasmic Reticulum-associated Degradation (ERAD) That Targets Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Elma El Khouri, Gwenaëlle Le Pavec, Michel B. Tolédano et al. · Journal of Biological Chemistry · 2013 · 102 citations · Full text

Novel E3 Ligase, Endoplasmic Reticulum-associated Degradation, Proteasome +20

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Elma El Khouri, Lucie Thomas, Ludovic Jeanson et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Hsp40 Family Member, Genetic Disorder, Genetics +6

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

Patrick Lorès, Denis Dacheux, Zine‐Eddine Kherraf et al. · The American Journal of Human Genetics · 2019 · 80 citations · Full text

Biology, Infertility, Andrology +8