Results 161 to 170 of about 5,408 (199)

Inherited retinal disorders in Scotland: A 5 year assessment. [PDF]

Eye (Lond)
Hazelwood JE, Sevgi M, Osborne F, Staniszewski B, George N, Ionean A, Gilmour DF, Megaw R.   +7 more
europepmc   +1 more source

Visual cycle-derived bisretinoids as endogenous natural products: enzyme-free formation, photochemical reactivity, and retinal degeneration.

Nat Prod Rep
Kim HJ, Sparrow JR, Jang YP.
europepmc   +1 more source

Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease.

Ophthalmic Res
Mata NL, Weng S, Michaelides M, Charbel Issa P, Quinodoz M, Rivolta C, Scholl HPN.   +6 more
europepmc   +1 more source

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story [PDF]

Genes, 2021
Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes an importer flippase protein that prevents the build-up of vitamin A derivatives that are toxic to the RPE.
Susan M Downes, Mital Shah, Jing Yu
exaly   +4 more sources

Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 2018
Recessive Stargardt disease (STGD1) is an inherited blinding disorder caused by mutations in the Abca4 gene. ABCA4 is a flippase in photoreceptor outer segments (OS) that translocates retinaldehyde conjugated to phosphatidylethanolamine across OS disc ...
Silvia C Finnemann, T Michael Redmond, Roxana A Radu   +2 more
exaly   +2 more sources

Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

International Journal of Molecular Sciences, 2020
ABCA4 gene mutations are the cause of a spectrum of ABCA4 retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. ABCA4 has previously been observed almost exclusively in the retina.
Michał Komorowski, Jacek Szaflik, Bartłomiej Noszczyk   +2 more
exaly   +2 more sources

Non-viral Gene Therapy for Stargardt Disease with ECO/pRHO-ABCA4 Self-Assembled Nanoparticles [PDF]

Molecular Therapy, 2020
Stargardt disease (STGD) is an autosomal recessive retinal disorder caused by a monogenic ABCA4 mutation. Currently, there is no effective therapy to cure Stargardt disease.
Rebecca Schur, Zheng-Rong Lu, Avery Sears   +2 more
exaly   +2 more sources

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Evolution of ABCA4 Proteins in Vertebrates

Journal of Molecular Evolution, 2005
The ABCA4 (ABCR) gene encodes a retinal-specific ATP-binding cassette transporter. Mutations in ABCA4 are responsible for several recessive macular dystrophies and susceptibility to age related macular degeneration (AMD). The protein appears to function as a flippase of all-trans-retinaldehyde and/or its derivatives across the membrane of outer segment
Alexander N, Yatsenko, Wojciech, Wiszniewski, Charles M, Zaremba, Milan, Jamrich, James R, Lupski   +4 more
openaire   +2 more sources

CHOROIDAL ALTERATIONS IN ABCA4-RELATED RETINOPATHY

Retina, 2017
To investigate choroidal alterations in ABCA4-related retinopathy.Mean choroidal thickness and subfoveal choroidal thickness were measured in the right eyes of 40 patients with ABCA4-related retinopathy using enhanced-depth imaging optical coherence tomography.
Philipp L, Müller, Rolf, Fimmers, Martin, Gliem, Frank G, Holz, Peter, Charbel Issa   +4 more
openaire   +2 more sources