Cargando…
Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
Medium-chain acyl-Coenzyme A dehydrogenase (MCAD) is involved in the initial step of mitochondrial fatty acid β-oxidation (FAO). Loss of function results in MCAD deficiency, a disorder that usually presents in childhood with hypoketotic hypoglycemia, vomiting and lethargy. While the disruption of mi...
Autores principales: | Lim, Sze Chern, Tajika, Makiko, Shimura, Masaru, Carey, Kirstyn T., Stroud, David A., Murayama, Kei, Ohtake, Akira, McKenzie, Matthew |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760697/ https://www.ncbi.nlm.nih.gov/pubmed/29317722 http://dx.doi.org/10.1038/s41598-017-18530-4 |
Ejemplares similares
-
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening
por: Mütze, Ulrike, et al.
Publicado: (2022) -
Insight into Coenzyme A cofactor binding and the mechanism of acyl-transfer in an acylating aldehyde dehydrogenase from Clostridium phytofermentans
por: Tuck, Laura R., et al.
Publicado: (2016) -
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency
por: Cani, Ilaria, et al.
Publicado: (2022) -
Loss of mitochondrial fatty acid β‐oxidation protein short‐chain Enoyl‐CoA hydratase disrupts oxidative phosphorylation protein complex stability and function
por: Burgin, Harrison, et al.
Publicado: (2022) -
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
por: Grünert, Sarah C
Publicado: (2014)