Accès ouvert
2026
preprint
OpenAlex
Judith Praena Fernandez, Annette Gärtner, Jess Perez-Perez, Sarah A. Cumming et autres
ABSTRACT Somatic instability (SI) of expanded DNA repeats is a hallmark of repeat expansion disorder (REDs) and drives onset and progression in Huntington’s disease (HD) yet the absence of target engagement (TE) biomarkers for SI-modulating therapies represents a critical gap to clinical …
es, de, gb, ca, ro, us
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Mónica Durán, Gema Ariceta, María Eugenia Semidey, Carla Castells-Esteve et autres
Mutations in Cl − /H + antiporter ClC-5 cause Dent’s disease type 1 (DD1), a rare tubulopathy that progresses to renal fibrosis and kidney failure. Here, we have used DD1 human cellular models and renal tissue from DD1 mice to unravel the …
es, us
(code pays fourni par la source)
Accès ouvert
2023
preprint
OpenAlex
M. Durán, Gema Ariceta, M. Eugenia Semidey, Carla Castells-Esteve et autres
ABSTRACT Mutations in the Cl - /H + antiporter ClC-5 cause Dent’s Disease 1 (DD1), a rare primary tubulopathy that eventually progresses to renal failure. In fact, even with normal kidney function, DD1 patients present renal tubulointerstitial fibrosis. However, the link between …
es, ps, us
(code pays fourni par la source)