D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness

Neuroscience

Volumn 197, Issue , 2011, Pages 80-88

  Nicchia, G P ^a   Ficarella, R ^b   Rossi, A ^a   Giangreco, I ^a   Nicolotti, O ^a   Carotti, A ^a   Pisani, F ^a   Estivill, X ^c   Gasparini, P ^d   Svelto, M ^a   Frigeri, A ^a  

^a UNIVERSITY OF BARI   (Italy)

^b UNIVERSITY OF BARI MEDICAL SCHOOL   (Italy)

^c CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^d INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

AQP4; Aquaporins; D184E; Deafness; OAPS; Water transport

Indexed keywords

AQUAPORIN 4; ASPARTIC ACID; GLUTAMIC ACID; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; AQUAPORIN 4 GENE; ARTICLE; CELL MEMBRANE; CONTROLLED STUDY; FEMALE; GENE; GENETIC CONSERVATION; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MAMMAL CELL; MICROSCOPY; MISSENSE MUTATION; MOLECULAR DYNAMICS; NONHUMAN; OOCYTE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN CONFORMATION; PROTEIN STRUCTURE; SPAIN; TOTAL INTERNAL REFLECTION MICROSCOPY; WATER PERMEABILITY; WESTERN BLOTTING; XENOPUS LAEVIS;

AMINO ACID SEQUENCE; ANIMALS; AQUAPORIN 4; BASE SEQUENCE; BLOTTING, WESTERN; DEAFNESS; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; PERMEABILITY; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, SECONDARY; WATER; XENOPUS LAEVIS;

EID: 82855165043     PISSN: 03064522     EISSN: 18737544     Source Type: Journal    
DOI: 10.1016/j.neuroscience.2011.09.023     Document Type: Article

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