A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse

Proceedings of the National Academy of Sciences of the United States of America

Volumn 104, Issue 49, 2007, Pages 19583-19588

  Grimm, Christian ^a   Cuajungco, Math P ^a,c   Van Aken, Alexander F J ^b   Schnee, Michael ^a   Jörs, Simone ^a   Kros, Corné J ^b   Ricci, Anthony J ^a   Heller, Stefan ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

^c CALIFORNIA STATE UNIVERSITY   (United States)

Author keywords

Cation channel; Cochlea; Hair cell; Inner ear; TRP channel

Indexed keywords

CATION CHANNEL; CLUSTERIN; LIPOCORTIN 5; PROLINE; SINGLE STRANDED DNA BINDING PROTEIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL; TRANSIENT RECEPTOR POTENTIAL CHANNEL M;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; BIOTINYLATION; CALCIUM CELL LEVEL; CELL STRAIN HEK293; COCHLEA; CONTROLLED STUDY; ELECTROPHYSIOLOGY; GAP JUNCTION; GENE; GENE ACTIVITY; GENE MUTATION; GENETIC SUSCEPTIBILITY; HAIR CELL; HEARING LOSS; HUMAN; HUMAN CELL; INNER EAR; MOUSE; NONHUMAN; PATCH CLAMP; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SODIUM CELL LEVEL; TRPML1 GENE; WESTERN BLOTTING;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; APOPTOSIS; CELL LINE; HEARING LOSS; MICE; MOLECULAR SEQUENCE DATA; PROLINE; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; TRPM CATION CHANNELS;

MAMMALIA; MUS;

EID: 37649014647     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0709846104     Document Type: Article

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