Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias

Abstract Mutations in the mitochondrial enzyme propionyl-CoA carboxylase (PCC) cause propionic aciduria (PA). Chronic kidney disease (CKD) is a known long-term complication. However, good metabolic control and standard therapy fail to prevent CKD. The pathophysiological mechanisms of CKD are unclear...

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Main Authors: Anke Schumann, Ainhoa Martinez-Pizarro, Eva Richard, Christoph Schell, Anna Laura Kössinger, Karina A. Zeyer, Stefan Tholen, Oliver Schilling, Michael Barry, Björn Neubauer, Michael Köttgen, Luciana Hannibal, Lourdes R. Desviat, Ute Spiekerkötter
Formato: Artigo
Idioma:Inglês
Publicado: Nature Portfolio 2024-12-01
Series:Scientific Reports
Assuntos:
Propionic aciduria
Mitochondrial dysfunction
Mitochondrial homeostasis
Mitochondrial fission
Chronic kidney disease
Mitochondrial energy metabolism
Acceso en liña:https://doi.org/10.1038/s41598-024-79572-z
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