Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency. [PDF]
JIMD Rep, 2023 Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglutarate ...
Wongkittichote P +6 more
europepmc +8 more sources
Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian children [PDF]
BMC PediatrBackground Dihydrolipoamide dehydrogenase deficiency (DLDD) (OMIM# 246,900) is an extremely rare inherited metabolic disorder causing neurological and/or liver impairment.
Aloulou H +8 more
europepmc +4 more sources
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia. [PDF]
Mol Genet Metab Rep, 2021 Background: Dihydrolipoamide dehydrogenase deficiency (DLDD) is a rare metabolic disorder inherited in an autosomal recessive manner. This heterogeneous disease has a variable clinical presentation, onset, and biochemical markers.
Alfarsi A +7 more
europepmc +5 more sources
Dihydrolipoamide dehydrogenase (DLD) is a novel molecular target of bortezomib. [PDF]
Cell Death DisProteasome inhibitors (PIs), such as bortezomib and calfizomib, were backbone agents in the treatment of multiple myeloma (MM). In this study, we investigated bortezomib interactors in MM cells and identified dihydrolipoamide dehydrogenase (DLD) as a ...
Feng Y +14 more
europepmc +4 more sources
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte. [PDF]
Mol Genet Metab Rep, 2014 Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD) type III, is caused by the deficiency of the E3 subunit of branched chain alpha-ketoacid dehydrogenase (BCKDH), α-ketoglutarate dehydrogenase (αKGDH), and pyruvate ...
Quinonez SC +4 more
europepmc +4 more sources
Roles of Dihydrolipoamide Dehydrogenase in Health and Disease. [PDF]
Antioxid Redox Signal, 2023 Significance: Dihydrolipoamide dehydrogenase (DLDH) is a flavin-dependent disulfide oxidoreductase. The active form of DLDH is a stable homodimer, and its deficiencies have been linked to numerous metabolic disorders. A better understanding of redox and nonredox features of DLDH may reveal druggable targets for disease interventions or preventions ...
Yan LJ, Wang Y.
europepmc +3 more sources
Identification of Dihydrolipoamide Dehydrogenase as Potential Target of Vemurafenib-Resistant Melanoma Cells. [PDF]
Molecules, 2022 Background: Despite recent improvements in therapy, the five-year survival rate for patients with advanced melanoma is poor, mainly due to the development of drug resistance.
Tabolacci C +9 more
europepmc +2 more sources
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency. [PDF]
Nutrients, 2021 Background: Dihydrolipoamide dehydrogenase (DLD lipoamide dehydrogenase, the E3 subunit of the pyruvate dehydrogenase complex (PDHC)) is the third catalytic enzyme of the PDHC, which converts pyruvate to acetyl-CoA catalyzed with the introduction of acetyl-CoA to the tricyclic acid (TCA) cycle.
Staretz-Chacham O +7 more
europepmc +4 more sources
Dihydrolipoamide dehydrogenase regulates cystine deprivation-induced ferroptosis in head and neck cancer. [PDF]
Redox Biol, 2020 Ferroptosis is a new form of regulated cell death driven by iron-dependent lipid peroxidation. Glutaminolysis and tricarboxylic acid cycle are involved in ferroptosis, but the underlying metabolic process remains unclear.
Shin D, Lee J, You JH, Kim D, Roh JL.
europepmc +2 more sources
Rg3 regulates myocardial pyruvate metabolism via P300-mediated dihydrolipoamide dehydrogenase 2-hydroxyisobutyrylation in TAC-induced cardiac hypertrophy. [PDF]
Cell Death Dis, 2022 The failing heart is characterized by an increase in glucose uptake and glycolytic rates that is not accompanied by a concomitant increase in glucose oxidation.
Ni J +12 more
europepmc +2 more sources