Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations

Human Mutation

Volumn 36, Issue 9, 2015, Pages 881-893

  Arredondo, Juan ^a   Lara, Marian ^a   Gospe, Sídney M ^b   Mazia, Claudio G ^c   Vaccarezza, Maria ^d   Garcia Erro, Marcela ^e   Bowe, Constance M ^a   Chang, Celia H ^a   Mezei, Michelle M ^f   Maselli, Ricardo A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c INSTITUTO DE INVESTIGACIONES MÉDICAS ALFREDO LANARI   (Argentina)

^d HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

^e HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

ChAT; Enzyme kinetics; Genotype phenotype correlations; Phosphorylation

Indexed keywords

AMIFAMPRIDINE; CHOLINE ACETYLTRANSFERASE; CHOLINESTERASE INHIBITOR;

ADOLESCENT; APNEA; ARTICLE; ARTIFICIAL VENTILATION; ASTHMA; BETA SHEET; BINDING SITE; BULBAR PARALYSIS; CATALYTIC EFFICIENCY; CAUSE OF DEATH; CHILD; CHILD DEATH; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIPLOPIA; DISEASE SEVERITY; DNA DETERMINATION; DNA TRANSFECTION; DRUG TREATMENT FAILURE; EMBRYO; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME CONFORMATION; ENZYME KINETICS; ENZYME LOCALIZATION; ENZYME PHOSPHORYLATION; ENZYME STABILITY; ENZYME STRUCTURE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEK293 CELL LINE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROGEN BOND; HYDROPHOBICITY; LIMB WEAKNESS; MALE; MEDICAL HISTORY; MUSCLE ACTION POTENTIAL; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEOPHILICITY; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN MODIFICATION; PROTEIN PROTEIN INTERACTION; PTOSIS; RESPIRATORY FAILURE; SCHOOL CHILD; STEADY STATE; THERMOSTABILITY; TRACHEOTOMY; TREATMENT OUTCOME; TREATMENT RESPONSE; ALLELE; AMINO ACID SUBSTITUTION; CHEMISTRY; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; ENZYME SPECIFICITY; GENE EXPRESSION; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; METABOLISM; MOLECULAR MODEL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PHOSPHORYLATION; PROTEIN CONFORMATION;

ADOLESCENT; ALLELES; AMINO ACID SUBSTITUTION; BINDING SITES; CATALYTIC DOMAIN; CHILD, PRESCHOOL; CHOLINE O-ACETYLTRANSFERASE; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEK293 CELLS; HUMANS; HYDROGEN BONDING; MALE; MODELS, MOLECULAR; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PHOSPHORYLATION; PROTEIN CONFORMATION; SUBSTRATE SPECIFICITY;

EID: 84938966597     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22823     Document Type: Article

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