Associated Papers
Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.
Kasprzyk-Pawelec A et al.
Cell Death and Differentiation, 2025
Loss of the mitochondrial carrier, SLC25A1, during embryogenesis induces a unique senescence program controlled by p53.
Kasprzyk-Pawelec A et al.
Biorxiv : the Preprint Server for Biology, 2024
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.
Li W et al.
Bmc Neurology, 2020
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop A et al.
Journal of Inherited Metabolic Disease, 2018
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
Cohen I et al.
American Journal of Medical Genetics. Part A, 2018
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.
Eguchi M et al.
American Journal of Medical Genetics. Part A, 2018
Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
Majd H et al.
Biochimica Et Biophysica Acta. Bioenergetics, 2018
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.
Prasun P et al.
Jimd Reports, 2015
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Nota B et al.
American Journal of Human Genetics, 2013
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Chaouch A et al.
Journal of Neuromuscular Diseases, 0
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