Cargando…
Human Coenzyme Q(10) Deficiency
Ubiquinone (coenzyme Q(10) or CoQ(10)) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. Deficiency of CoQ(10) (MIM 607426) has been associated with five different clinical presentations that suggest genetic heterogeneity, which may be related to the...
Autores principales: | Quinzii, Catarina M., DiMauro, Salvatore, Hirano, Michio |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Kluwer Academic Publishers-Plenum Publishers
2006
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1832150/ https://www.ncbi.nlm.nih.gov/pubmed/17094036 http://dx.doi.org/10.1007/s11064-006-9190-z |
Ejemplares similares
-
Survival transcriptome in the coenzyme Q(10) deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q(10) deficiencies
por: Fernández-Ayala, Daniel J M, et al.
Publicado: (2013) -
Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects
por: López, Luis C., et al.
Publicado: (2010) -
ANO10 mutations cause ataxia and coenzyme Q(10) deficiency
por: Balreira, Andrea, et al.
Publicado: (2014) -
Redefining infantile-onset multisystem phenotypes of coenzyme Q(10)-deficiency in the next-generation sequencing era
por: Berardo, Andres, et al.
Publicado: (2020) -
Effects of Inhibiting CoQ(10) Biosynthesis with 4-nitrobenzoate in Human Fibroblasts
por: Quinzii, Catarina M., et al.
Publicado: (2012)