Associated Papers
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
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
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
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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