Evaluation of italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 8, 2011, Pages 5618-5624

  Testa, Francesco ^a   Surace, Enrico Maria ^b   Rossi, Settimio ^a   Marrocco, Elena ^b   Gargiulo, Annagiusi ^b   Iorio, Valentina Di ^a   Ziviello, Carmela ^b,c   Nesti, Anna ^a   Fecarotta, Simona ^b   Bacci, Maria Laura ^d   Giunti, Massimo ^d   della Corte, Michele ^a   Banfi, Sandro ^b   Auricchio, Alberto ^b,e   Simonelli, Francesca ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS VECTOR; AIPL1 PROTEIN; GENE THERAPY AGENT; GENOMIC DNA; UNCLASSIFIED DRUG; AIPL1 PROTEIN, HUMAN; AIPL1 PROTEIN, MOUSE; CARRIER PROTEIN; EYE PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADOLESCENT; ADULT; AGED; AIPL1 GENE; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CONTROLLED STUDY; DNA MICROARRAY; ELECTRORETINOGRAPHY; EYE FUNDUS; FEMALE; GENE; GENE MUTATION; HISTOLOGY; HUMAN; IMMUNOFLUORESCENCE; ITALY; KERATOCONUS; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NYSTAGMUS; PHOTORECEPTOR; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; REFRACTION ERROR; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINA MACULOPATHY; SCHOOL CHILD; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; SWINE; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY; VISUAL ACUITY; ANIMAL; DISEASE MODEL; EVALUATION; GENE THERAPY; GENE VECTOR; GENETICS; METHODOLOGY; MIDDLE AGED; MOUSE MUTANT; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; ANIMALS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; EYE PROTEINS; GENE THERAPY; GENETIC VECTORS; HUMANS; ITALY; LEBER CONGENITAL AMAUROSIS; MICE; MICE, KNOCKOUT; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SUS SCROFA; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 80053316934     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6543     Document Type: Article

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