Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2

Autor: Dalal Bakhos-Douaihy, Elie Seaayfan, Nadia Frachon, Sylvie Demaretz, Martin Kömhoff, Kamel Laghmani

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 21, p 12761 (2022)

Mutations in the apical Na-K-2Cl co-transporter, NKCC2, cause type I Bartter syndrome (BS1), a life-threatening kidney disease. We have previously demonstrated that the BS1 variant Y998X, which deprives NKCC2 from its highly conserved dileucine-like

Externí odkaz: https://doaj.org/article/362963dcab9144a3b68de16e34b4e46b

Differential Effects of STCH and Stress-Inducible Hsp70 on the Stability and Maturation of NKCC2

Autor: Dalal Bakhos-Douaihy, Elie Seaayfan, Sylvie Demaretz, Martin Komhoff, Kamel Laghmani

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 4, p 2207 (2021)

Mutations in the Na-K-2Cl co-transporter NKCC2 lead to type I Bartter syndrome, a life-threatening kidney disease. We previously showed that export from the ER constitutes the limiting step in NKCC2 maturation and cell surface expression. Yet, the mo

Externí odkaz: https://doaj.org/article/670abf52bccb44b694e5c606f5ba8d0c

New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1

Autor: Nadia Frachon, Dalal Bakhos-Douaihy, Stefanie Weber, Sylvie Demaretz, Yingying Zhu, Elie Seaayfan, Martin Kömhoff, Irfan Shaukat, Kamel Laghmani, Rosa Vargas-Poussou

Publikováno v: Human Mutation
Human Mutation, Wiley, 2021, 42 (8), pp.947-968. ⟨10.1002/humu.24217⟩

International audience; Mutations in Na-K-2Cl co-transporter, NKCC2, lead to type I Bartter syndrome (BS1), a life-threatening kidney disease. Yet, our knowledge of the molecular regulation of NKCC2 mutants remains poor. Here, we aimed to identify th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aed69b492ad62e2d3419d9ae256351d1
https://hal.archives-ouvertes.fr/hal-03457040

Differential Effects of STCH and Stress-Inducible Hsp70 on the Stability and Maturation of NKCC2

Autor: Kamel Laghmani, Dalal Bakhos-Douaihy, Sylvie Demaretz, Elie Seaayfan, Martin Komhoff

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 4
International Journal of Molecular Sciences, 2021, 22 (4), pp.2207. ⟨10.3390/ijms22042207⟩
International Journal of Molecular Sciences, Vol 22, Iss 2207, p 2207 (2021)
International Journal of Molecular Sciences, MDPI, 2021, 22 (4), pp.2207. ⟨10.3390/ijms22042207⟩

International audience; Mutations in the Na-K-2Cl co-transporter NKCC2 lead to type I Bartter syndrome, a life-threatening kidney disease. We previously showed that export from the ER constitutes the limiting step in NKCC2 maturation and cell surface

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99bbfa4eadd8060ad650fbd4e6d1e5c2

Opposite effects of GCN5 and PCAF knockdowns on the alternative mechanism of telomere maintenance

Autor: Jose R. Pineda, Nicolas Ugolin, David C. Silvestre, Chantal Desmaze, Hervé Chneiweiss, Maya Jeitany, Didier Busso, François D. Boussin, Marie-Pierre Junier, Sylvie Chevillard, Dalal Bakhos-Douaihy, Laurent Gauthier, Angela Moussa

Publikováno v: Oncotarget
Oncotarget, Impact journals, 2017, 8 (16), pp.26269-26280. ⟨10.18632/oncotarget.15447⟩
Oncotarget, 2017, 8 (16), pp.26269-26280. ⟨10.18632/oncotarget.15447⟩

International audience; Cancer cells can use a telomerase-independent mechanism, known as alternative lengthening of telomeres (ALT), to elongate their telomeres. General control non-derepressible 5 (GCN5) and P300/CBP-associated factor (PCAF) are tw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6421f761292cc680824126a1bb745f34
https://hal.archives-ouvertes.fr/hal-01541412