Gene therapy for Leber congenital amaurosis: advances and future directions.

scientific article published on 29 May 2012

Gene therapy for Leber congenital amaurosis: advances and future directions. is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1002351335
P356DOI10.1007/S00417-012-2028-2
P698PubMed publication ID22644094
P5875ResearchGate publication ID225073408

P50authorZelia M CorreaQ39764901
Robert B HufnagelQ55712686
Robert A SiskQ56850835
P2093author name stringZubair M Ahmed
P2860cites workLentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosisQ21144697
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophyQ24317514
Null RPGRIP1 alleles in patients with Leber congenital amaurosisQ24533477
Vision 1 year after gene therapy for Leber's congenital amaurosisQ24607981
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trialQ24608049
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administrationQ24627838
The human visual cortex responds to gene therapy-mediated recovery of retinal functionQ24629697
Safety and efficacy of gene transfer for Leber's congenital amaurosisQ24634724
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 yearQ24634801
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosisQ24685618
Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65-/- knockout mouse eye results in limited rescueQ24802168
Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkeyQ27329160
Mutations in the CRB1 gene cause Leber congenital amaurosisQ28202971
Mutations in RPE65 cause Leber's congenital amaurosisQ28250918
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).Q39364826
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosaQ39909289
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patientsQ40179772
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosisQ40292682
Recombinant adeno-associated virus serotype 4 mediates unique and exclusive long-term transduction of retinal pigmented epithelium in rat, dog, and nonhuman primate after subretinal deliveryQ40583540
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosisQ42958512
Gene therapy restores vision in a canine model of childhood blindnessQ43590733
Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) geneQ43887400
Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog.Q44376450
In utero gene therapy rescues vision in a murine model of congenital blindnessQ44753954
Functional evaluation in central retinitis pigmentosaQ45010708
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injectionQ45417238
Postsurgical assessment and long-term safety of recombinant adeno-associated virus-mediated gene transfer into the retinas of dogs and primatesQ45483961
Long-term doxycycline-regulated transgene expression in the retina of nonhuman primates following subretinal injection of recombinant AAV vectorsQ45855564
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remainingQ45862739
Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epitheliumQ45863029
Lentiviral vectors containing a retinal pigment epithelium specific promoter for leber congenital amaurosis gene therapy. Lentiviral gene therapy for LCA.Q45865415
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapyQ45869158
Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosisQ45887612
Theodor Leber: a founder of ophthalmic researchQ48969484
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.Q52532886
The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation ofRPE65and Differentiation from Leber Congenital AmaurosisQ57784505
The natural history of Leber's congenital amaurosis. Age-related findings in 35 patientsQ68081738
Vision in Leber congenital amaurosisQ71098155
Mutational analysis and clinical correlation in Leber congenital amaurosisQ73087273
[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia]Q73583945
ERG and VEP follow-up study in children with Leber's congenital amaurosisQ77969716
Amaurosis congenita (Leber)Q78500638
Case 15-2009: a man with coma after cardiac arrestQ95802924
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial LectureQ28255087
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialQ28262431
Effect of gene therapy on visual function in Leber's congenital amaurosisQ28277981
Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindnessQ28279062
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisQ28298481
The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65Q28593641
Regulation of retinal function but nonrescue of vision in RPE65-deficient dogs treated with doxycycline-regulatable AAV vectorsQ30495021
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsQ30537764
AAV2 gene therapy readministration in three adults with congenital blindness.Q30587265
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transferQ33315634
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutationsQ33584461
Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse.Q33622429
Subretinal delivery of adeno-associated virus serotype 2 results in minimal immune responses that allow repeat vector administration in immunocompetent mice.Q33739804
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy successQ33771032
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosisQ33845544
Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.Q33857732
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapyQ33992484
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutationsQ34332943
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.Q35442947
Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse.Q35518971
Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1Q35522527
Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1.Q35561447
Nanotechnology and nanotoxicology in retinopathyQ35600266
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindnessQ36825024
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunctionQ36915431
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kineticsQ36937189
Technical brief: subretinal injection and electroporation into adult mouse eyesQ36995732
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 vectorsQ37292973
Nanoparticles for retinal gene therapyQ37746102
Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early agesQ38328841
Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosisQ38639460
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.Q38891357
The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genesQ38914398
Gene therapy in ophthalmology: validation on cultured retinal cells and explants from postmortem human eyesQ39009982
P433issue8
P921main subjectgene therapyQ213901
congenital disorderQ727096
Leber congenital amaurosisQ1811132
P304page(s)1117-1128
P577publication date2012-05-29
P1433published inGraefe's Archive for Clinical and Experimental OphthalmologyQ15757667
P1476titleGene therapy for Leber congenital amaurosis: advances and future directions
P478volume250

Reverse relations

cites work (P2860)
Q48204571A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
Q28544830A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro
Q37091380A review of therapeutic prospects of non-viral gene therapy in the retinal pigment epithelium
Q27318539AAV2 delivery of Flt23k intraceptors inhibits murine choroidal neovascularization
Q39306038Applications of CRISPR/Cas9 in retinal degenerative diseases
Q35152826Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis
Q38120835Genetic testing for inherited ocular disease: delivering on the promise at last?
Q37136391Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.
Q35805426Improvement in vision: a new goal for treatment of hereditary retinal degenerations
Q37609110Laboratory and clinical reliability of conformally coated subretinal implants
Q38915580Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations
Q28582445Long-term efficacy of ciliary muscle gene transfer of three sFlt-1 variants in a rat model of laser-induced choroidal neovascularization
Q34996941Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients
Q41108843Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
Q37381112Persistence of non-viral vector mediated RPE65 expression: case for viability as a gene transfer therapy for RPE-based diseases
Q28077029Retinol Dehydrogenases Regulate Vitamin A Metabolism for Visual Function
Q37718516Targeted Multifunctional Lipid ECO Plasmid DNA Nanoparticles as Efficient Non-viral Gene Therapy for Leber's Congenital Amaurosis
Q45875271The Progress of Gene Therapy for Leber`s Optic Hereditary Neuropathy
Q42261520The prevalence of neutralizing antibodies against adeno-associated virus capsids is reduced in young Japanese individuals
Q86138866Translating genome engineering to better clinical outcomes
Q34764453Translational models of ocular disease
Q37083819Vitamin A derivatives as treatment options for retinal degenerative diseases
Q36887018rAAV-compatible MiniPromoters for restricted expression in the brain and eye.

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