Results 191 to 200 of about 5,906 (214)
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Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
Journal of Inherited Metabolic Disease, 2009SummaryThe pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to acetyl‐CoA. We report four novel PDHA1 mutations in patients with pyruvate dehydrogenase deficiency.
E, Ostergaard +8 more
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Alteration of mitochondrial protein PDHA1 in Lewy body disease and PARK14
Biochemical and Biophysical Research Communications, 2017The histopathological hallmark of Parkinson's disease (PD) and dementia with Lewy bodies (DLB) is the occurrence of insoluble fibrillary aggregates known as Lewy bodies. Mitochondria play a vital role in energy production, and the pathogenesis of PD is associated with altered cellular metabolism due to mitochondrial dysfunction.
Yasuo Miki +5 more
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Refined localization of the pyruvate dehydrogenase E1α gene (PDHA1) by linkage analysis
Human Genetics, 1996Pyruvate dehydrogenase (PDH) E1 alpha is a key component in the PDH complex which catalyzes the oxidative decarboxylation of pyruvate to acetyl-CoA. Defects in the gene coding for PDH E1 alpha (PDHA1) are associated with a variety of clinical symptoms, often of a severe character.
Børglum, A D +3 more
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Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
Molecular Genetics and Metabolism, 2010Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1alpha subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more ...
Curtis R, Coughlin +6 more
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Pyruvate dehydrogenase deficiency: Novel PDHA1 mutation in a child with progressive encephalopathy
Neuropediatrics, 2012Pyruvate dehydrogenase complex (PDHc) deficiency is an inborn error of carbohydrate metabolism that is heterogeneous in its presentation and clinical course. Most cases of PDHc deficiency are attributable to mutations in the X-chromosomal PDHA1 gene which encodes the E1α subunit.
C Schenke +5 more
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Clinical Genetics, 2010
Quintana E, Gort L, Busquets C, Navarro‐Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P, PDH Working Group. Mutational study in thePDHA1gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.We screened forPDHA1mutations in 40 patients with biochemically demonstrated PDHc deficiency or strong ...
Quintana, E. +10 more
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Quintana E, Gort L, Busquets C, Navarro‐Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P, PDH Working Group. Mutational study in thePDHA1gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.We screened forPDHA1mutations in 40 patients with biochemically demonstrated PDHc deficiency or strong ...
Quintana, E. +10 more
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Molecular Genetics and Metabolism, 2001
A deficiency of pyruvate dehydrogenase complex (PDC) in humans results in lactic acidosis and neurological dysfunction that frequently results in death during infancy. Using gene targeting technology, a silent mutation was introduced into the murine X-linked Pdha1 gene that encodes the alpha subunit of the pyruvate dehydrogenase or E1 component of the ...
M T, Johnson +6 more
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A deficiency of pyruvate dehydrogenase complex (PDC) in humans results in lactic acidosis and neurological dysfunction that frequently results in death during infancy. Using gene targeting technology, a silent mutation was introduced into the murine X-linked Pdha1 gene that encodes the alpha subunit of the pyruvate dehydrogenase or E1 component of the ...
M T, Johnson +6 more
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G471 Somatic mosaicism in X-linked PDHA1 gene - a cause of developmental delay and epilepsy
Archives of Disease in Childhood, 2014Background Pyruvate dehydrogenase complex (PDHc) deficiency is an inborn error of metabolism that occurs most commonly due to mutations in the X-linked E1α subunit gene (PDHA1). PDHc plays a critical role in carbohydrate metabolism and energy production.
J. Kutty +3 more
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Molecular Genetics and Metabolism, 2010
We present a patient with congenital lactic acidosis, agenesis of the corpus callosum, and profound developmental delay. Assays of pyruvate dehydrogenase complex function were normal in lymphocytes, but decreased in fibroblasts. Sequencing of the PDHA1 gene did not reveal deleterious mutations, and BAC based microarray analysis did not reveal any ...
Benjamin H, Singer +3 more
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We present a patient with congenital lactic acidosis, agenesis of the corpus callosum, and profound developmental delay. Assays of pyruvate dehydrogenase complex function were normal in lymphocytes, but decreased in fibroblasts. Sequencing of the PDHA1 gene did not reveal deleterious mutations, and BAC based microarray analysis did not reveal any ...
Benjamin H, Singer +3 more
openaire +2 more sources