Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption

Sialidosis is an ultra-rare multisystemic lysosomal disease caused by mutations in the neuraminidase 1 (NEU1) gene. The severe type II form of the disease manifests with a prenatal/infantile or juvenile onset, bone abnormalities, severe neuropathology, and visceromegaly. A subset of these patients p...

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Detalles Bibliográficos
Autores principales: Kho, Ikhui, Demina, Ekaterina P., Pan, Xuefang, Londono, Irene, Cairo, Christopher W., Sturiale, Luisa, Palmigiano, Angelo, Messina, Angela, Garozzo, Domenico, Ung, Roth-Visal, Mac-Way, Fabrice, Bonneil, Éric, Thibault, Pierre, Lemaire, Mathieu, Morales, Carlos R., Pshezhetsky, Alexey V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10619504/
https://www.ncbi.nlm.nih.gov/pubmed/37698928
http://dx.doi.org/10.1172/jci.insight.166470

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