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An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor proteinPyruvate dehydrogenase E1 alpha deficiency: males and females differ yet againKnockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemiaHuman Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachCompromised mitochondrial fatty acid synthesis in transgenic mice results in defective protein lipoylation and energy disequilibriumCerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency.Extramitochondrial Ca2+ in the nanomolar range regulates glutamate-dependent oxidative phosphorylation on demandMitochondrial myopathies and encephalomyopathies.Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigationClinical mitochondrial genetics.Development of head organizer of the mouse embryo depends on a high level of mitochondrial metabolism.Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.p53 Enables metabolic fitness and self-renewal of nephron progenitor cellsATP6AP2/(pro)renin receptor contributes to glucose metabolism via stabilizing the pyruvate dehydrogenase E1 β subunitA novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex IMetabolic plasticity maintains proliferation in pyruvate dehydrogenase deficient cellsDifferential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetateDiversity and origins of anaerobic metabolism in mitochondria and related organelles.Two-Step Reactivation of Dormant Cones in Retinitis PigmentosaBeneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency.Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brainDecreased expression of pyruvate dehydrogenase A1 predicts an unfavorable prognosis in ovarian carcinoma.A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.Transduction of human recombinant proteins into mitochondria as a protein therapeutic approach for mitochondrial disorders.Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.Functional analyses of major cancer-related signaling pathways in Alzheimer's disease etiology.Integrative proteomics and biochemical analyses define Ptc6p as the Saccharomyces cerevisiae pyruvate dehydrogenase phosphatase.Tissue-Specific Functions of p53 During Kidney Development.Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.X chromosome inactivation and X-linked mental retardation.Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation.Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.Continuous pH monitoring using the Paratrend 7 inserted into a peripheral vein in a patient with shock and congenital lactic acidosis.Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.Autopsy findings in pyruvate dehydrogenase E1alpha deficiency: case report.
P2860
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P2860
description
1994 nî lūn-bûn
@nan
1994 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Pyruvate dehydrogenase deficiency
@ast
Pyruvate dehydrogenase deficiency
@en
Pyruvate dehydrogenase deficiency
@en-gb
Pyruvate dehydrogenase deficiency
@nl
type
label
Pyruvate dehydrogenase deficiency
@ast
Pyruvate dehydrogenase deficiency
@en
Pyruvate dehydrogenase deficiency
@en-gb
Pyruvate dehydrogenase deficiency
@nl
prefLabel
Pyruvate dehydrogenase deficiency
@ast
Pyruvate dehydrogenase deficiency
@en
Pyruvate dehydrogenase deficiency
@en-gb
Pyruvate dehydrogenase deficiency
@nl
P2093
P2860
P3181
P356
P1476
Pyruvate dehydrogenase deficiency
@en
P2093
P2860
P3181
P356
10.1136/JMG.31.11.875
P407
P577
1994-11-01T00:00:00Z