N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy

Human Mutation

Volumn 32, Issue 10, 2011, Pages 1153-1160

  Heibel, Sandra K ^a,b   Ah Mew, Nicholas ^a   Caldovic, Ljubica ^a   Daikhin, Yevgeny ^c   Yudkoff, Marc ^c   Tuchman, Mendel ^a  

^a GEORGE WASHINGTON UNIVERSITY   (United States)

^b UNIVERSITY OF MARYLAND   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Gene expression regulation; Hyperammonemia; N acetyl L glutamate; NAG

Indexed keywords

ACETYL COENZYME A; CARBAMOYL PHOSPHATE SYNTHASE; CARGLUMIC ACID; GLUTAMATE ACETYLTRANSFERASE; GLUTAMIC ACID; HEPATOCYTE NUCLEAR FACTOR 1;

ADOLESCENT; AMMONIA BLOOD LEVEL; ARTICLE; ATAXIA; CASE REPORT; FEMALE; GENE; HUMAN; HUMAN CELL; HYPERAMMONEMIA; LIVER BIOPSY; NAGS GENE; NAUSEA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOMNOLENCE; UREA CYCLE DISORDER;

ADOLESCENT; ALLELES; AMINO-ACID N-ACETYLTRANSFERASE; BASE SEQUENCE; BINDING SITES; CELL LINE, TUMOR; CHILD; ENHANCER ELEMENTS, GENETIC; FEMALE; GENE FREQUENCY; GLUTAMATES; HEP G2 CELLS; HEPATOCYTE NUCLEAR FACTOR 1; HUMANS; NUCLEOTIDE MOTIFS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SEQUENCE DELETION; TREATMENT OUTCOME; UREA CYCLE DISORDERS, INBORN;

MAMMALIA;

EID: 80052976638     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21553     Document Type: Article

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