Cargando…
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
BACKGROUND: Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a process for which BCS1L protein is indispensable. Mutations in the BCS1L gene c...
Autores principales: | Tegelberg, Saara, Tomašić, Nikica, Kallijärvi, Jukka, Purhonen, Janne, Elmér, Eskil, Lindberg, Eva, Nord, David Gisselsson, Soller, Maria, Lesko, Nicole, Wedell, Anna, Bruhn, Helene, Freyer, Christoph, Stranneheim, Henrik, Wibom, Rolf, Nennesmo, Inger, Wredenberg, Anna, Eklund, Erik A., Fellman, Vineta |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399415/ https://www.ncbi.nlm.nih.gov/pubmed/28427446 http://dx.doi.org/10.1186/s13023-017-0624-2 |
Ejemplares similares
-
Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation
por: Purhonen, Janne, et al.
Publicado: (2017) -
COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation
por: Davoudi, Mina, et al.
Publicado: (2016) -
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
por: Hikmat, Omar, et al.
Publicado: (2021) -
Metabolite Profiles Reveal Energy Failure and Impaired Beta-Oxidation in Liver of Mice with Complex III Deficiency Due to a BCS1L Mutation
por: Kotarsky, Heike, et al.
Publicado: (2012) -
BCS glossary of computing
por: Burdett, Arnold, et al.
Publicado: (2016)