Pyruvate dehydrogenase phosphatase deficiency: Identification of the first mutation in two brothers and restoration of activity by protein complementation

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 7, 2005, Pages 4101-4107

  Maj, Mary C ^a   MacKay, Neviana ^a   Levandovskiy, Valeriy ^a   Addis, Jane ^a   Baumgartner, E Regula ^c   Baumgartner, Matthias R ^d   Robinson, Brian H ^a,b   Cameron, Jessie M ^a  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CELL EXTRACT; DICHLOROACETIC ACID; ISOENZYME; LACTIC ACID; LEUCINE; MUTANT PROTEIN; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE PHOSPHATASE; RECOMBINANT PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CATALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PARENT; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SKIN FIBROBLAST; STEADY STATE; WILD TYPE;

AMINO ACID SEQUENCE; CHILD; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, SECONDARY; PYRUVATE DEHYDROGENASE (LIPOAMIDE)-PHOSPHATASE; RECOMBINANT PROTEINS; SIBLINGS;

EID: 23044485346     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2005-0123     Document Type: Article

References (37)

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