SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 162-169

  Guglielmi, Valeria ^a   Vattemi, Gaetano ^a   Gualandi, Francesca ^b   Voermans, Nicol C ^c   Marini, Matteo ^a   Scotton, Chiara ^b   Pegoraro, Elena ^d   Oosterhof, Arie ^c   Kósa, Magdolna ^e   Zádor, Erno ^e   Valente, Enza Maria ^f,g   De Grandis, Domenico ^h   Neri, Marcella ^b   Codemo, Valentina ^d   Novelli, Antonio ⁱ   van Kuppevelt, Toin H ^c   Dallapiccola, Bruno ⁱ   van Engelen, Baziel G ^c   Ferlini, Alessandra ^b   Tomelleri, Giuliano ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF SZEGED   (Hungary)

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^g UNIVERSITY OF MESSINA   (Italy)

^h Ospedale di Rovigo   (Italy)

ⁱ UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

ATP2A1 gene; Brody disease; Brody syndrome; Sarcoplasmic endoplasmic reticulum Ca2+ ATPase 1 (SERCA1)

Indexed keywords

DANTROLENE; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; SERCA1 PROTEIN; SERCA1B PROTEIN; UNCLASSIFIED DRUG; ATP2A1 PROTEIN, HUMAN;

ADULT; ARTICLE; BICEPS BRACHII MUSCLE; BRODY DISEASE; BRODY SYNDROME; CASE REPORT; CONTROLLED STUDY; DRUG WITHDRAWAL; ELECTROMYOGRAM; ENZYME ACTIVITY; EXERCISE TOLERANCE; EXON; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; HUMAN CELL; LIVER TOXICITY; MALE; MALIGNANT HYPERTHERMIA; MOTOR UNIT POTENTIAL; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE FIBER CULTURE; MUSCLE RIGIDITY; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; RARE DISEASE; TIBIALIS ANTERIOR MUSCLE; AMINO ACID SEQUENCE; CELL CULTURE; FEMALE; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; INFANT; METABOLISM; MUTATION; MYOTONIA CONGENITA; PATHOLOGY; PRESCHOOL CHILD; SKELETAL MUSCLE; TISSUE CULTURE TECHNIQUE;

ADULT; AMINO ACID SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; EXONS; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; INFANT; MALE; MUSCLE FIBERS, SKELETAL; MUTATION; MYOTONIA CONGENITA; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; TISSUE CULTURE TECHNIQUES;

EID: 84882868295     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.015     Document Type: Article

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