Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency [PDF]
JIMD Reports, 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 ...
Parith Wongkittichote +6 more
doaj +8 more sources
Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian children [PDF]
BMC PediatricsBackground Dihydrolipoamide dehydrogenase deficiency (DLDD) (OMIM# 246,900) is an extremely rare inherited metabolic disorder causing neurological and/or liver impairment.
Hajer Aloulou +8 more
doaj +7 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.
Claudio Tabolacci +9 more
doaj +5 more sources
Rg3 regulates myocardial pyruvate metabolism via P300-mediated dihydrolipoamide dehydrogenase 2-hydroxyisobutyrylation in TAC-induced cardiac hypertrophy [PDF]
Cell Death and Disease, 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.
Jingyu Ni +12 more
doaj +5 more sources
Dihydrolipoamide dehydrogenase regulates cystine deprivation-induced ferroptosis in head and neck cancer [PDF]
Redox Biology, 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.
Daiha Shin +4 more
doaj +5 more sources
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia [PDF]
Molecular Genetics and Metabolism Reports, 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.
Anar Alfarsi +7 more
doaj +5 more sources
Dihydrolipoamide dehydrogenase (DLD) is a novel molecular target of bortezomib [PDF]
Cell Death and DiseaseProteasome 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 ...
Yu Feng +14 more
doaj +5 more sources
Pharmacological Blockade of Cannabinoid CB1 Receptors in Diet-Induced Obesity Regulates Mitochondrial Dihydrolipoamide Dehydrogenase in Muscle. [PDF]
PLoS ONE, 2015 Cannabinoid CB1 receptors peripherally modulate energy metabolism. Here, we investigated the role of CB1 receptors in the expression of glucose/pyruvate/tricarboxylic acid (TCA) metabolism in rat abdominal muscle.
Sergio Arrabal +16 more
doaj +9 more sources
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients. [PDF]
J Inherit Metab DisDihydrolipoamide dehydrogenase deficiency (MIM 246900/DLDD) is an autosomal recessive mitochondrial disease with three clinical subgroups. The hepatic form leads to recurrent metabolic decompensations often accompanied by elevated levels of liver ...
Hammann N +18 more
europepmc +4 more sources
Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency [PDF]
JCI Insight, 2022 Dihydrolipoamide dehydrogenase (DLD) deficiency is a recessive mitochondrial disorder caused by depletion of DLD from α-ketoacid dehydrogenase complexes.
Chynna N. Broxton +8 more
doaj +3 more sources