Pages that link to "Q77958594"
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The following pages link to Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews (Q77958594):
Displaying 32 items.
- Cryptic proteolytic activity of dihydrolipoamide dehydrogenase (Q24684609) (← links)
- An update on the role of mitochondrial α-ketoglutarate dehydrogenase in oxidative stress (Q26863471) (← links)
- The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (Q28203048) (← links)
- Structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry: Implications for the structural basis of E3 deficiency (Q30392030) (← links)
- Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency (Q30584522) (← links)
- Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases (Q34268291) (← links)
- Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. (Q34286987) (← links)
- Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency (Q34320251) (← links)
- TAT opens the door (Q34339371) (← links)
- Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation (Q34536343) (← links)
- Glucose/mitochondria in neurological conditions (Q34991055) (← links)
- Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells (Q35562774) (← links)
- Biochemical assays for mitochondrial activity: assays of TCA cycle enzymes and PDHc (Q36796211) (← links)
- Animal models of maple syrup urine disease (Q37407144) (← links)
- Lipoic acid biosynthesis defects. (Q38207913) (← links)
- The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders (Q38294904) (← links)
- Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome (Q38919997) (← links)
- High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders (Q41927928) (← links)
- Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte (Q41962400) (← links)
- Characteristics of Mitochondrial Transformation into Human Cells (Q42121736) (← links)
- Formation of reactive oxygen species by human and bacterial pyruvate and 2-oxoglutarate dehydrogenase multienzyme complexes reconstituted from recombinant components (Q42656697) (← links)
- Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. (Q44741396) (← links)
- Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy (Q44757623) (← links)
- A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family (Q45817648) (← links)
- Lipoic acid metabolism and mitochondrial redox regulation. (Q46250720) (← links)
- TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency (Q46685505) (← links)
- A genetic profile of contemporary Jewish populations (Q47596505) (← links)
- Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency (Q47984413) (← links)
- Genetic landscape of pediatric movement disorders and management implications (Q57069386) (← links)
- Successful TAT-mediated enzyme replacement therapy in a mouse model of mitochondrial E3 deficiency (Q82465935) (← links)
- Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family (Q83120646) (← links)
- An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence (Q92215385) (← links)