Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients. [PDF]
Dihydrolipoamide 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
Roles of Dihydrolipoamide Dehydrogenase in Health and Disease. [PDF]
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 DLDH's redox
Yan LJ, Wang Y.
europepmc +4 more sources
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency. [PDF]
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 ...
Staretz-Chacham O+7 more
europepmc +5 more sources
Dihydrolipoamide dehydrogenase of Vibrio splendidus is involved in adhesion to Apostichopus japonicus [PDF]
Vibrio splendidus is one of the most opportunistic marine pathogens and infects many important marine animals, including the sea cucumber Apostichopus japonicus.
Fa Dai+6 more
doaj +3 more sources
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction [PDF]
Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive disorder characterized by a functional disruption in several critical mitochondrial enzyme complexes, including pyruvate dehydrogenase and α-ketoglutarate dehydrogenase.
Uri Sprecher+8 more
doaj +3 more sources
Chronic Inhibition of Mitochondrial Dihydrolipoamide Dehydrogenase (DLDH) as an Approach to Managing Diabetic Oxidative Stress [PDF]
Mitochondrial dihydrolipoamide dehydrogenase (DLDH) is a redox enzyme involved in decarboxylation of pyruvate to form acetyl-CoA during the cascade of glucose metabolism and mitochondrial adenine triphosphate (ATP) production.
Xiaojuan Yang, Jing Song, Liang-Jun Yan
doaj +3 more sources
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte [PDF]
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 ...
Shane C. Quinonez+4 more
doaj +4 more sources
RGD-modified dihydrolipoamide dehydrogenase conjugated to titanium dioxide nanoparticles - switchable integrin-targeted photodynamic treatment of melanoma cells. [PDF]
The photocytotoxic effect of UVA-excited titanium dioxide (TiO2), which is caused by the generation of reactive oxygen species (ROS), is often used in medical applications, such as cancer treatment. Photodynamic-therapy (PDT) is applied in several cancer
Dayan A, Fleminger G, Ashur-Fabian O.
europepmc +4 more sources
Suppression of a core metabolic enzyme dihydrolipoamide dehydrogenase (dld) protects against amyloid beta toxicity in C. elegans model of Alzheimer's disease. [PDF]
Ahmad W, Ebert PR.
europepmc +3 more sources
Structural and Biochemical Investigation of Selected Pathogenic Mutants of the Human Dihydrolipoamide Dehydrogenase. [PDF]
Clinically relevant disease-causing variants of the human dihydrolipoamide dehydrogenase (hLADH, hE3), a common component of the mitochondrial α-keto acid dehydrogenase complexes, were characterized using a multipronged approach to unravel the molecular ...
Szabo E+8 more
europepmc +2 more sources