Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy

Human Gene Therapy

Volumn 24, Issue 7, 2013, Pages 702-713

  Rendu, John ^a,b   Brocard, Julie ^a,b   Denarier, Eric ^a,b,c   Monnier, Nicole ^a,b   Piétri Rouxel, France ^d   Beley, Cyriaque ^d   Roux Buisson, Nathalie ^a,b   Gilbert Dussardier, Brigitte ^e   Perez, Marie José ^f   Romero, Norma ^g   Garcia, Luis ^d   Lunardi, Joël ^a,b   Fauré, Julien ^a,b   Fourest Lieuvin, Anne ^a,b,c   Marty, Isabelle ^a,b  

^a GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

^b UNIV GRENOBLE ALPES   (France)

^c CEA GRENOBLE   (France)

^d INSERM   (France)

^e POITIERS UNIVERSITY HOSPITAL   (France)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

^g SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; RYANODINE RECEPTOR 1;

ARTICLE; CALCIUM TRANSPORT; CELL CULTURE; CELL DIFFERENTIATION; CELL SELECTION; CONTROLLED STUDY; EXON; EXON SKIPPING; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MEMBRANE DEPOLARIZATION; MUSCLE CELL; MYOPATHY; MYOTUBE; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; SEVERE CORE DISEASE;

BLOTTING, WESTERN; CALCIUM; DNA PRIMERS; EXONS; GENE EXPRESSION REGULATION; GENETIC THERAPY; GENETIC VECTORS; HEK293 CELLS; HUMANS; LENTIVIRUS; MICROSCOPY, FLUORESCENCE; MUTATION; MYOPATHY, CENTRAL CORE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84880629573     PISSN: 10430342     EISSN: 15577422     Source Type: Journal    
DOI: 10.1089/hum.2013.052     Document Type: Article

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