Daniel J.M. Fernández‐Ayala
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View article: Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency
Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency Open
Our results highlight the importance of expanding the genetic analysis beyond the coding sequence to reduce the misdiagnosis of primary CoQ deficiency patients.
View article: Prenatal and progressive coenzyme Q<sub>10</sub> administration to mitigate muscle dysfunction in mitochondrial disease
Prenatal and progressive coenzyme Q<sub>10</sub> administration to mitigate muscle dysfunction in mitochondrial disease Open
Background ADCK genes encode aarF domain‐containing mitochondrial kinases involved in coenzyme Q (CoQ) biosynthesis and regulation. Haploinsufficiency of ADCK2 in humans leads to adult‐onset physical incapacity with reduced mitochondrial C…
View article: New variants expand the neurological phenotype of <scp>COQ7</scp> deficiency
New variants expand the neurological phenotype of <span>COQ7</span> deficiency Open
The protein encoded by COQ7 is required for CoQ 10 synthesis in humans, hydroxylating 3‐demethoxyubiquinol (DMQ 10 ) in the second to last steps of the pathway. COQ7 mutations lead to a primary CoQ 10 deficiency syndrome associated with a …
View article: Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle
Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle Open
ADCK2 haploinsufficiency-mediated mitochondrial coenzyme Q deficiency in skeletal muscle causes mitochondrial myopathy associated with defects in beta-oxidation of fatty acids, aged-matched metabolic reprogramming, and defective physical p…
View article: Coenzyme Q at the Hinge of Health and Metabolic Diseases
Coenzyme Q at the Hinge of Health and Metabolic Diseases Open
Coenzyme Q is a unique lipidic molecule highly conserved in evolution and essential to maintaining aerobic metabolism. It is endogenously synthesized in all cells by a very complex pathway involving a group of nuclear genes that share high…
View article: ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency Open
Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading to decreased physical performance. Here, we report that haploinsufficiency of A…
View article: ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency Open
Fatty acids and glucose are the main bioenergetic substrates in mammals that are alternatively used during the transition between fasting and feeding. Impairment of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading t…
View article: Role of Mitochondrial Reverse Electron Transport in ROS Signaling: Potential Roles in Health and Disease
Role of Mitochondrial Reverse Electron Transport in ROS Signaling: Potential Roles in Health and Disease Open
Reactive Oxygen Species (ROS) can cause oxidative damage and have been proposed to be the main cause of aging and age-related diseases including cancer, diabetes and Parkinson's disease. Accordingly, mitochondria from old individuals have …
View article: Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency
Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency Open
Coenzyme Q10 (CoQ10) plays a crucial role in mitochondria as an electron carrier within the mitochondrial respiratory chain (MRC) and is an essential antioxidant. Mutations in genes responsible for CoQ10 biosynthesis (COQ genes) cause prim…
View article: Biochemical Assessment of Coenzyme Q10 Deficiency
Biochemical Assessment of Coenzyme Q10 Deficiency Open
Coenzyme Q10 (CoQ10) deficiency syndrome includes clinically heterogeneous mitochondrial diseases that show a variety of severe and debilitating symptoms. A multiprotein complex encoded by nuclear genes carries out CoQ10 biosynthesis. Muta…
View article: RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of<i>COQ7</i>
RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of<i>COQ7</i> Open
Coenzyme Q (CoQ) is a key component of the mitochondrial respiratory chain carrying electrons from complexes I and II to complex III and it is an intrinsic component of the respirasome. CoQ concentration is highly regulated in cells in ord…