Associated Papers
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.
Alatawi A et al.
Clinical Genetics, 2026
PANK2-mediated de novo CoA synthesis is required for metabolic switching to fatty acid oxidation.
Nordlie SM et al.
Biorxiv : the Preprint Server for Biology, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
40868553 (PubMed )
Supplement: children-12-01102-s001.zip › children-3727203-supplementary.pdf
Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.
Heckmann K et al.
Jimd Reports, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Aldosary M et al.
Jimd Reports, 2021
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
Bird MJ et al.
Metabolites, 2019
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.
Iuso A et al.
Jimd Reports, 2019
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.
Almannai M et al.
Clinical Genetics, 2018
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.
Shamseldin HE et al.
Human Genetics, 2016
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