Associated Papers
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.
Sen K et al.
Pediatric Neurology, 2025
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.
Hartman TG et al.
Neurogenetics, 2020
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Lebigot E et al.
Molecular Genetics and Metabolism, 2017
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F et al.
American Journal of Human Genetics, 2017
Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death.
Bernardinelli E et al.
Plos One, 2017
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