Cargando…
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy
Pyruvate is an essential metabolite produced by glycolysis in the cytosol and must be transported across the inner mitochondrial membrane into the mitochondrial matrix, where it is oxidized to fuel mitochondrial respiration. Pyruvate import is performed by the mitochondrial pyruvate carrier (MPC), a...
Autores principales: | Pujol, Claire, Lebigot, Elise, Gaignard, Pauline, Galai, Said, Kraoua, Ichraf, Bault, Jean-Philippe, Dard, Rodolphe, Youssef-Turki, Ilhem Ben, Omar, Souheil, Boutron, Audrey, Wai, Timothy, Slama, Abdelhamid |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976959/ https://www.ncbi.nlm.nih.gov/pubmed/36417180 http://dx.doi.org/10.1093/brain/awac444 |
Ejemplares similares
-
Mixed movement disorders revealing an atypical form of creatine deficiency syndrome
por: Nasrallah, Fahmi, et al.
Publicado: (2015) -
Valproate adverse effects on creatine metabolism and transport in a patient under drug therapy
por: Nasrallah, Fahmi, et al.
Publicado: (2014) -
Rasmussen's Encephalitis: A Report of a Tunisian Pediatric Case and Literature Review
por: Klaa, Hedia, et al.
Publicado: (2020) -
Pediatric Multiple Sclerosis in Tunisia: A Retrospective Study over 11 Years
por: Ben Achour, Nedia, et al.
Publicado: (2017) -
Mitochondrial Medicine and the Neurodegenerative Mitochondriopathies
por: Swerdlow, Russell H.
Publicado: (2009)