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searching for RPE65 18 found (48 total)

alternate case: rPE65

Retinitis pigmentosa (6,401 words) [view diff] exact match in snippet view article find links to article

patients with Leber congenital amaurosis type 2. It replaces the miscoded RPE65 protein that is produced within the retinal pigmented epithelium. It has

Choroideremia (3,087 words) [view diff] exact match in snippet view article find links to article

S.; Schwartz S. B.; Boye S. L.; Windsor E. A. M.; et al. (2009). "Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual

Spark Therapeutics (904 words) [view diff] exact match in snippet view article find links to article

and confirmed biallelic RPE65 mutation-associated retinal dystrophy, a genetic blinding condition caused by mutations in the RPE65 gene. The company is currently

RPGRIP1 (1,188 words) [view diff] exact match in snippet view article find links to article

(November 2005). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". Journal

MERTK (1,093 words) [view diff] exact match in snippet view article find links to article

isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively". American Journal of Human Genetics. 70 (1): 224–9

Jung-Min Lee (865 words) [view diff] case mismatch in snippet view article find links to article

therapeutic editing of genes involved in disease causing such as PARP1, Rpe65 and Mct8. Additionally, Lee has published clinical guidelines for the management

Phylomedicine (661 words) [view diff] exact match in snippet view article find links to article

; et al. (2016-01-01). "Comparative sequence analyses of rhodopsin and RPE65 reveal patterns of selective constraint across hereditary retinal disease

AIPL1 (994 words) [view diff] exact match in snippet view article find links to article

Bergen AA (2005). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med

RDH12 (657 words) [view diff] exact match in snippet view article find links to article

PMID 15865448. Jacobson SG, Cideciyan AV, Aleman TS, et al. (2007). "RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease

Retina (9,293 words) [view diff] exact match in snippet view article find links to article

S.; Schwartz S. B.; Boye S. L.; Windsor E. A. M.; et al. (2009). "Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual

Krzysztof Palczewski (652 words) [view diff] exact match in snippet view article find links to article

Bennett, J. (2005). "Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success". Proceedings of

Gene therapy for color blindness (2,336 words) [view diff] exact match in snippet view article find links to article

Roman AJ, et al. (August 2006). "Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis". Human

CRB1 (1,150 words) [view diff] exact match in snippet view article find links to article

et al. (2006). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med

Stargardt disease (2,814 words) [view diff] exact match in snippet view article find links to article

in Phase III clinical trials of a visual cycle modulator that modulates RPE65 activity to treat Stargardt's. Kubota Vision published the results of a

Priority review (3,432 words) [view diff] exact match in snippet view article find links to article

Mepsevii Mucopolysaccharidosis type VII Ultragenyx Rare pediatric Luxturna RPE65-mutated retinal dystrophy Spark Therapeutics Rare pediatric Crysvita X-linked

Viral vector (4,962 words) [view diff] exact match in snippet view article find links to article

first AAV-based in vivo gene therapy—voretigene neparvovec—which treated RPE65-associated Leber congenital amaurosis. As of 2020, 230 clinical trials using

Katherine A. High (1,439 words) [view diff] exact match in snippet view article find links to article

obtained Breakthrough Therapy designations for three product candidates, SPK-RPE65 (Luxturna®), SPK-9001 for hemophilia B, and for SPK-8011 for hemophilia

Robert MacLaren (3,761 words) [view diff] exact match in snippet view article find links to article

Leber's Congenital Amaurosis (LCA). A faulty gene in the pigment layer, RPE65, prevented his photoreceptor cells from working, so a valid copy of the