A novel disease gene for Brugada syndrome: Sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5

Circulation: Arrhythmia and Electrophysiology

Volumn 5, Issue 6, 2012, Pages 1098-1107

  Ishikawa, Taisuke ^a   Sato, Akinori ^a,b   Marcou, Cherisse A ^c,d   Tester, David J ^c,d   Ackerman, Michael J ^c,d   Crotti, Lia ^e,f,g   Schwartz, Peter J ^f,g,h,i,j   On, Young Keun ^k   Park, Jeong Euy ^p   Nakamura, Kazufumi ^l   Hiraoka, Masayasu ^a   Nakazawa, Kiyoshi ^m   Sakurada, Harumizu ⁿ   Arimura, Takuro ^a   Makita, Naomasa ^o   Kimura, Akinori ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^c MAYO CLINIC   (United States)

^d MAYO GRADUATE SCHOOL   (United States)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f UNIVERSITY OF PAVIA   (Italy)

^g FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^h UNIVERSITY OF CAPE TOWN   (South Africa)

ⁱ STELLENBOSCH UNIVERSITY   (South Africa)

^j KING SAUD UNIVERSITY   (Saudi Arabia)

^k Sungkyunkwan University School of Medicine   (South Korea)

^l OKAYAMA UNIVERSITY   (Japan)

^m Asao General Hospital   (Japan)

ⁿ TOKYO METROPOLITAN HIROO HOSPITAL   (Japan)

^o NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^p NONE

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Author keywords

Arrhythmia mechanisms; Genes; Ion channels; Sarcoplasmic reticulum

Indexed keywords

ALANINE; GLUTAMIC ACID; ISOLEUCINE; MEMBRANE PROTEIN; SARCOLEMMAL MEMBRANE ASSOCIATED PROTEIN; SMALL INTERFERING RNA; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRUGADA SYNDROME; CELL SURFACE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; GENE EXPRESSION; GENE SILENCING; GENETIC ANALYSIS; GENETIC TRANSFECTION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; INTRACELLULAR TRANSPORT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATCH CLAMP; PREDICTIVE VALUE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SARCOLEMMA; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE CELL; WHOLE CELL PATCH CLAMP;

BRUGADA SYNDROME; CASE-CONTROL STUDIES; GENE SILENCING; HEK293 CELLS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; RNA, SMALL INTERFERING; SARCOPLASMIC RETICULUM; TRANSFECTION;

EID: 84873856880     PISSN: 19413149     EISSN: 19413084     Source Type: Journal    
DOI: 10.1161/CIRCEP.111.969972     Document Type: Article

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