Biochemical mechanism of pathogenesis of human gonadotropin-releasing hormone receptor mutants Thr104Ile and Tyr108Cys associated with familial hypogonadotropic hypogonadism

Molecular and Cellular Endocrinology

Volumn 337, Issue 1-2, 2011, Pages 16-23

  Maya Nunez Guadalupe G ^a   Janovick, Jo Ann ^b   Aguilar Rojas, Arturo ^a,c   Jardón Valadez, Eduardo ^a   Leaños Miranda, Alfredo ^a   Zariñan, Teresa ^a   Ulloa Aguirre, Alfredo ^a,b   Conn, P Michael ^a,b,d  

^a Hospital Luis Castelazo Ayala   (Mexico)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Gonadotropin releasing hormone (receptor); Hypogonadotropic hypogonadism; Molecular basis of disease; Mutation; Pharmacoperone; Protein misfolding

Indexed keywords

DISULFIDE; GONADORELIN RECEPTOR; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL MEMBRANE; CELL STRAIN COS7; CONTROLLED STUDY; GENETIC ASSOCIATION; GONADOTROPIN RELEASING HORMONE RECEPTOR GENE; HYPOGONADOTROPIC HYPOGONADISM; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN TARGETING; RECEPTOR BINDING; RECEPTOR GENE; TRANSIENT EXPRESSION; WILD TYPE;

BINDING, COMPETITIVE; BUSERELIN; CELLS, CULTURED; DOSE-RESPONSE RELATIONSHIP, DRUG; HUMANS; HYPOGONADISM; INHIBITORY CONCENTRATION 50; INOSITOL PHOSPHATES; MOLECULAR DYNAMICS SIMULATION; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN INTERACTION DOMAINS AND MOTIFS; RECEPTORS, LHRH;

EID: 79953320996     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2011.01.016     Document Type: Article

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