Associated Papers
Engineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiency.
Bick NR et al.
The Journal of Biological Chemistry, 2024
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Stowe RC et al.
American Journal of Medical Genetics. Part A, 2018
Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings.
Taché V et al.
Case Reports in Obstetrics and Gynecology, 2016
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
Tort F et al.
Human Molecular Genetics, 2014
Select a paper to view details