Cargando…
Is ABCC6 a genuine mitochondrial protein?
BACKGROUND: A recent article in Circulation Research suggests that the protein ABCC6, which when defective is responsible for pseudoxanthoma elasticum, an inherited condition with skin, eye and cardiovascular manifestations, is associated with dysfunction in mitochondria – Martin et al.: ABCC6 Local...
Autores principales: | Ferré, Marc, Reynier, Pascal, Chevrollier, Arnaud, Prunier-Mirebeau, Delphine, Lefthériotis, Georges, Henrion, Daniel, Bonneau, Dominique, Procaccio, Vincent, Martin, Ludovic |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015885/ https://www.ncbi.nlm.nih.gov/pubmed/24152371 http://dx.doi.org/10.1186/1756-0500-6-427 |
Ejemplares similares
-
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
por: Cassereau, Julien, et al.
Publicado: (2011) -
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect
por: Nochez, Yannick, et al.
Publicado: (2009) -
Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration
por: Angebault, Claire, et al.
Publicado: (2011) -
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
por: Kane, Mariame Selma, et al.
Publicado: (2017) -
OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background
por: Pierron, Denis, et al.
Publicado: (2009)