Related references
Note: Only part of the references are listed.Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
Mei Hong Tan et al.
HUMAN MOLECULAR GENETICS (2009)
Safety and efficacy of gene transfer for Leber's congenital amaurosis
Albert M. Maguire et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Effect of gene therapy on visual function in Leber's congenital amaurosis
James W. B. Bainbridge et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
Artur V. Cideciyan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
Assessment of ocular transduction using single-stranded and self-complementary recombinant adeno-associated virus serotype 2/8
M. Natkunarajah et al.
GENE THERAPY (2008)
AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEβ mutation
Ji-jing Pang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Novel adeno-associated virus serotypes efficiently transduce murine Photoreceptors
Mariacarmela Allocca et al.
JOURNAL OF VIROLOGY (2007)
AAV-Mediated expression targeting of rod and cone photoreceptors with a human rhodopsin kinase promoter
Shahrokh C. Khani et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Restoration of cone vision in a mouse model of achromatopsia
John J. Alexander et al.
NATURE MEDICINE (2007)
Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP
BS Pawlyk et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
In utero gene therapy rescues vision in a murine model of congenital blindness
NS Dejneka et al.
MOLECULAR THERAPY (2004)
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase
XQ Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase
V Ramamurthy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Retinal degeneration in Aipl1-deficient mice:: a new genetic model of Leber congenital amaurosis
MA Dyer et al.
MOLECULAR BRAIN RESEARCH (2004)
An overview of Leber congenital amaurosis: A model to understand human retinal development
RK Koenekoop
SURVEY OF OPHTHALMOLOGY (2004)
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations
S Dhamaraj et al.
ARCHIVES OF OPHTHALMOLOGY (2004)
The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments
J van der Spuy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Recombinant AAV-mediated gene transfer to the retina: gene therapy perspectives
F Rolling
GENE THERAPY (2004)
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins
V Ramamurthy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
More than folding: localized functions of cytosolic chaperones
JC Young et al.
TRENDS IN BIOCHEMICAL SCIENCES (2003)
A short, highly active photoreceptor-specific enhancer/promoter region upstream of the human rhodopsin kinase gene
JE Young et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
AAV-mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa
AJ Smith et al.
MOLECULAR THERAPY (2003)
Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog
K Narfström et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1
DT Akey et al.
HUMAN MOLECULAR GENETICS (2002)
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
C Rivolta et al.
HUMAN MOLECULAR GENETICS (2002)
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
J van der Spuy et al.
HUMAN MOLECULAR GENETICS (2002)
Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity
JE Rabinowitz et al.
JOURNAL OF VIROLOGY (2002)
Unfolding retinal dystrophies: a role for molecular chaperones?
JP Chapple et al.
TRENDS IN MOLECULAR MEDICINE (2001)
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
S Gerber et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
TP Dryja et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Gene therapy restores vision in a canine model of childhood blindness
GM Acland et al.
NATURE GENETICS (2001)
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
RR Ali et al.
NATURE GENETICS (2000)
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
MM Sohocki et al.
MOLECULAR GENETICS AND METABOLISM (2000)
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
MM Sohocki et al.
NATURE GENETICS (2000)