Sequential deletion of C-terminal amino acids of the E1α component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E1α2β2 tetramers: Implications for patients with PDH deficiency

Human Molecular Genetics

Volumn 9, Issue 7, 2000, Pages 1041-1048

  Seyda, Agnieszka ^a   McEachern, Gillian ^a   Haas, Richard ^b   Robinson, Brian H ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE COMPLEX;

ADULT; ALLELE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL LINE; CONTROLLED STUDY; DELETION MUTANT; DISEASE COURSE; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN STABILITY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; SOMATIC CELL; STOP CODON; SURVIVAL TIME; TESTIS CELL;

ADULT; ANIMALS; BLOTTING, WESTERN; CELL LINE; DNA, COMPLEMENTARY; FIBROBLASTS; GENE DELETION; HUMANS; MALE; MITOCHONDRIA, HEART; MUTAGENESIS, SITE-DIRECTED; MUTATION; PLASMIDS; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; RATS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TESTIS;

EID: 0034639853     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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