Therapeutic exon switching for dysferlinopathies

European Journal of Human Genetics

Volumn 18, Issue 9, 2010, Pages 969-970

  Lévy, Nicolas ^a,b   Wein, Nicolas ^a   Barthelemy, Florian ^a   Mouly, Vincent ^c   Garcia, Luis ^c   Krahn, Martin ^a,b   Bartoli, Marc ^a  

^a AIX MARSEILLE UNIVERSITY   (France)

^b TIMONE HOSPITAL   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; DYSFERLIN; MESSENGER RNA;

ANTISENSE THERAPY; DYSFERLINOPATHY; EXON; EXON 32; EXON SKIPPING; GENE MUTATION; GENE SEQUENCE; GENE TRANSFER; HUMAN; LETTER; NEUROMUSCULAR DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

EXONS; FRAMESHIFT MUTATION; HUMANS; MEMBRANE PROTEINS; MUSCLE PROTEINS;

EID: 77955981008     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.73     Document Type: Letter

References (5)

1. Aartsma-Rus A, Singh KH, Fokkema IF et al: Therapeutic exon skipping for dysferlino-pathies? Eur J Hum Genet 2010, e-pub ahead of print 10 February 2010.
2. Wein N, Avril A, Bartoli M et al: Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum Mutat 2010; 31: 136-142.
3. Sinnreich M, Therrien C, Karpati G: Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. Neurology 2006; 66: 1114-1116.
4. Krahn M, Wein N, Lostal W et al: Partial functionality of a mini-dysferlin moleculei-dentified in a patient affected with moderately severe primary dysferlinopathy. Neuromuscul Disord 2008; 18: 781.
5. Aartsma-Rus A, van Ommen GJ: Progress in therapeutic antisense applications for neuromuscular disorders. Eur J Hum Genet 2010; 18: 146-153.