[HTML][HTML] The pathophysiological role of CoA
A Czumaj, S Szrok-Jurga, A Hebanowska… - International Journal of …, 2020 - mdpi.com
The importance of coenzyme A (CoA) as a carrier of acyl residues in cell metabolism is well
understood. Coenzyme A participates in more than 100 different catabolic and anabolic …
understood. Coenzyme A participates in more than 100 different catabolic and anabolic …
Mitochondrial transport and metabolism of the vitamin B‐derived cofactors thiamine pyrophosphate, coenzyme A, FAD and NAD+, and related diseases: A review
Multiple mitochondrial matrix enzymes playing key roles in metabolism require cofactors for
their action. Due to the high impermeability of the mitochondrial inner membrane, these …
their action. Due to the high impermeability of the mitochondrial inner membrane, these …
[HTML][HTML] Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …
Regulation of coenzyme A levels by degradation: the 'Ins and Outs'
P Naquet, EW Kerr, SD Vickers, R Leonardi - Progress in lipid research, 2020 - Elsevier
Coenzyme A (CoA) is the predominant acyl carrier in mammalian cells and a cofactor that
plays a key role in energy and lipid metabolism. CoA and its thioesters (acyl-CoAs) regulate …
plays a key role in energy and lipid metabolism. CoA and its thioesters (acyl-CoAs) regulate …
[HTML][HTML] Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review
In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases
resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations …
resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations …
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease
EM McCormick, Z Zolkipli-Cunningham… - Current opinion in …, 2018 - journals.lww.com
Broad-based exome sequencing has become the standard first-line diagnostic approach for
PMD. This has facilitated more rapid and accurate disease identification, and greatly …
PMD. This has facilitated more rapid and accurate disease identification, and greatly …
PKAN pathogenesis and treatment
SJ Hayflick, SY Jeong, OCM Sibon - Molecular genetics and metabolism, 2022 - Elsevier
Studies aimed at supporting different treatment approaches for pantothenate kinase-
associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) …
associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) …
[HTML][HTML] Coenzyme A biochemistry: from neurodevelopment to neurodegeneration
Coenzyme A (CoA) is an essential cofactor in all living organisms. It is involved in a large
number of biochemical processes functioning either as an activator of molecules with …
number of biochemical processes functioning either as an activator of molecules with …
20,000 picometers under the OMM: diving into the vastness of mitochondrial metabolite transport
CN Cunningham, J Rutter - EMBO reports, 2020 - embopress.org
The metabolic compartmentalization enabled by mitochondria is key feature of many cellular
processes such as energy conversion to ATP production, redox balance, and the …
processes such as energy conversion to ATP production, redox balance, and the …
[HTML][HTML] An overview of mitochondrial protein defects in neuromuscular diseases
F Marra, P Lunetti, R Curcio, FM Lasorsa… - Biomolecules, 2021 - mdpi.com
Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause
incorrect communication between the nerves and muscles. The specific causes of NMDs are …
incorrect communication between the nerves and muscles. The specific causes of NMDs are …