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

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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Bibliographic Details
Main Authors: Ikhui Kho, Ekaterina P. Demina, Xuefang Pan, Irene Londono, Christopher W. Cairo, Luisa Sturiale, Angelo Palmigiano, Angela Messina, Domenico Garozzo, Roth-Visal Ung, Fabrice Mac-Way, Éric Bonneil, Pierre Thibault, Mathieu Lemaire, Carlos R. Morales, Alexey V. Pshezhetsky
Format: Article
Language:English
Published: American Society for Clinical investigation 2023-10-01
Series:JCI Insight
Subjects:
Genetics
Nephrology
Online Access:https://doi.org/10.1172/jci.insight.166470

Internet

https://doi.org/10.1172/jci.insight.166470

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