Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing

NeuroMolecular Medicine

Volumn 16, Issue 2, 2014, Pages 322-331

  Tal Goldberg, Tzukit ^a   Lorain, Stéphanie ^b,c   Mitrani Rosenbaum, Stella ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Sorbonne Université   (France)

^c University of Versailles Saint Quentin en Yvelines   (France)

Author keywords

Gene therapy; GNE; GNE myopathy; HIBM; Trans splicing

Indexed keywords

GENE THERAPY AGENT; PARVOVIRUS VECTOR; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; MULTIENZYME COMPLEX; RNA PRECURSOR; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

ANIMAL CELL; ARTICLE; CELL LINE; CELL STRAIN C2C12; EXON; GENE AMPLIFICATION; GENETIC REGULATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENOME; GNE GENE; GNE MYOPATHY; HEK293 CELL LINE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOUSE; MUSCLE CELL; MYOPATHY; NONHUMAN; PLASMID; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANS SPLICING; VIRAL GENE DELIVERY SYSTEM; WILD TYPE; ANIMAL; DEPENDOPARVOVIRUS; DISTAL MYOPATHIES; ETHNOLOGY; GENE THERAPY; GENE VECTOR; GENETIC RECOMBINATION; GENETICS; IRAN; JEW; METABOLISM; POINT MUTATION; PRIMARY CELL CULTURE; RECESSIVE GENE; RNA SPLICING; SPLICEOSOME; THERAPEUTIC USE;

ANIMALS; CELL LINE; DEPENDOVIRUS; DISTAL MYOPATHIES; EXONS; GENES, RECESSIVE; GENETIC THERAPY; GENETIC VECTORS; HUMANS; IRAN; JEWS; MICE; MULTIENZYME COMPLEXES; MUSCLE CELLS; MUTATION, MISSENSE; POINT MUTATION; PRIMARY CELL CULTURE; RECOMBINATION, GENETIC; RNA PRECURSORS; RNA SPLICING; SPLICEOSOMES; TRANSCRIPTION, GENETIC;

EID: 84901279822     PISSN: 15351084     EISSN: 15591174     Source Type: Journal    
DOI: 10.1007/s12017-013-8278-2     Document Type: Article

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