The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle

Journal of Genetics and Genomics

Volumn 42, Issue 5, 2015, Pages 249-260

  Díez Fernández, Carmen ^a   Gallego, José ^b   Häberle, Johannes ^c   Cervera, Javier ^a,d   Rubio, Vicente ^a,d  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b UNIVERSIDAD CATÓLICA DE VALENCIA SAN VICENTE MÁRTIR   (Spain)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Allosteric regulation; Carbamoyl phosphate synthetase 1; Enzyme; Hyperammonemia; Inborn errors; Restrained molecular dynamics; Site directed mutagenesis; Urea cycle diseases

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE; N ACETYLGLUTAMIC ACID; AMMONIA; GLUTAMIC ACID DERIVATIVE; N-ACETYLGLUTAMIC ACID; UREA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY; CONFORMATIONAL TRANSITION; ENZYME DEFICIENCY; ENZYME KINETICS; ENZYME PURIFICATION; ENZYME STABILITY; HUMAN; IN VITRO STUDY; MISSENSE MUTATION; MOLECULAR DYNAMICS; PROTEIN EXPRESSION; SITE DIRECTED MUTAGENESIS; UREA CYCLE DISORDER; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CHEMISTRY; ENZYMOLOGY; GENETICS; KINETICS; METABOLISM; MUTATION; PATHOLOGY; PROTEIN TERTIARY STRUCTURE; SIGNAL TRANSDUCTION;

AMMONIA; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; ENZYME STABILITY; GLUTAMATES; HUMANS; KINETICS; MOLECULAR DYNAMICS SIMULATION; MUTATION; PROTEIN STRUCTURE, TERTIARY; SIGNAL TRANSDUCTION; UREA;

EID: 84947047707     PISSN: 16738527     EISSN: 18735533     Source Type: Journal    
DOI: 10.1016/j.jgg.2015.03.009     Document Type: Article

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