Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function

Molecular Genetics and Metabolism

Volumn 112, Issue 2, 2014, Pages 123-132

  Díez Fernández, Carmen ^a   Hu, Liyan ^b   Cervera, Javier ^a,c   Häberle, Johannes ^b   Rubio, Vicente ^a,c  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

CPS 1 structure; CPS1 deficiency; Hyperammonemia; Inborn errors; Site directed mutagenesis; Urea cycle diseases

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; CARBAMOYL PHOSPHATE SYNTHASE; GLUTAMATE ACETYLTRANSFERASE; GLUTAMIC ACID; GLYCINE; HISTIDINE; ISOLEUCINE; LEUCINE; LYSINE; PROLINE; RECOMBINANT ENZYME; SERINE; THREONINE; TYROSINE; VALINE; GLUTAMIC ACID DERIVATIVE; N-ACETYLGLUTAMIC ACID; RECOMBINANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BACULOVIRUS; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEGRADATION; ENZYME PHOSPHORYLATION; ENZYME PURIFICATION; ENZYME STABILITY; ENZYME STRUCTURE; ENZYME SYNTHESIS; HUMAN; IN VITRO STUDY; INSECT CELL; MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FOLDING; SURVIVAL; THERMOSTABILITY; UNKNOWN FUNCTION SUBDOMAIN; ANIMAL; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; CYTOLOGY; GENETICS; INSECT; METABOLISM; MISSENSE MUTATION; NEWBORN; PATHOLOGY; PROTEIN CONFORMATION; PROTEIN TERTIARY STRUCTURE; TEMPERATURE;

ANIMALS; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; CELL LINE; ENZYME STABILITY; GLUTAMATES; HUMANS; INFANT, NEWBORN; INSECTS; MODELS, MOLECULAR; MUTATION, MISSENSE; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; TEMPERATURE;

EID: 84901623224     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.04.003     Document Type: Article

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