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Stargardt disease (STGD) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies.(1) Mutations in four genes have been linked with Stargardt disease: ABCA4, ELOVL4, PROM1, CNGB3.
McClements et al. investigate use of dual vector approach for AAV Gene Therapy of Stargardt disease.
anti-ABCA4 antibody (ABIN343052)
cited in Human Gene Therapy Vol. 30, No. 5. (2019)
The following targets are directly related to research on Stargardt disease. Click on the links to see available antibodies, kits, proteins, and tools.
Autosomal recessive retinal diseases caused by mutations in the ABCA4 gene are being considered for gene replacement therapy. All individuals with ABCA4-disease show macular degeneration.(2)
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Autosomal dominant Stargardt macular dystrophy caused by mutations in the Elongation of Very Long Chain fatty acids (ELOVL4) gene results in macular degeneration, leading to early childhood blindness.(3)
Prominin-1 (Prom1) is a transmembrane glycoprotein, which is expressed in stem cell lineages, and has recently been implicated in cancer stem cell survival. Mutations in the Prom1 gene have been shown to disrupt photoreceptor disk morphogenesis and cause an autosomal dominant form of Stargardt-like macular dystrophy (STGD4).(4)
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(1) Tanna P, Strauss RW, Fujinami K, Michaelides M. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2017 Jan;101(1):25-30. doi: 10.1136/bjophthalmol-2016-308823. Epub 2016 Aug 4. PMID: 27491360; PMCID: PMC5256119.
(2) Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K. ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet. 2009 Mar 1;18(5):931-41. doi: 10.1093/hmg/ddn421. Epub 2008 Dec 12. PMID: 19074458; PMCID: PMC2640207.
(3) Agbaga MP, Tam BM, Wong JS, Yang LL, Anderson RE, Moritz OL. Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks. Invest Ophthalmol Vis Sci. 2014 May 15;55(6):3669-80. doi: 10.1167/iovs.13-13099.
(4) Bhattacharya S, Yin J, Winborn CS, Zhang Q, Yue J, Chaum E. Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2366-2387. doi: 10.1167/iovs.16-21162.