Results 31 to 40 of about 2,525,884 (192)

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. [PDF]

PLoS Genetics, 2019
Autosomal recessive retinal degenerative diseases cause visual impairment and blindness in both humans and dogs. Currently, no standard treatment is available, but pioneering gene therapy-based canine models have been instrumental for clinical trials in ...
Suvi Mäkeläinen, Marta Gòdia, Minas Hellsand, Agnese Viluma, Daniela Hahn, Karim Makdoumi, Caroline J Zeiss, Cathryn Mellersh, Sally L Ricketts, Kristina Narfström, Finn Hallböök, Björn Ekesten, Göran Andersson, Tomas F Bergström   +13 more
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Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Molecular Therapy: Nucleic Acids, 2023
Stargardt disease type 1 (STGD1) is the most common hereditary form of maculopathy and remains untreatable. STGD1 is caused by biallelic variants in the ABCA4 gene, which encodes the ATP-binding cassette (type 4) protein (ABCA4) that clears toxic ...
Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens   +11 more
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The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies [PDF]

The American Journal of Human Genetics, 2002
To the Editor: Recently, Maugeri et al. (2000) reported on the screening of the ABCA4 gene in 5 patients with autosomal recessive cone-rod dystrophies (CRD) and 15 patients with sporadic CRD originating from Germany and the Netherlands. The identification of mutations in 13/20 patients (65%) led the authors to speculate that “Mutations in the ABCA4 (
Ducroq, Dominique, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Barbet, Fabienne, Hanein, Sylvain, Hakiki, Selim, Dufier, Jean-Louis, Munnich, Arnold, Hamel, Christian, Kaplan, Josseline   +10 more
openaire   +2 more sources

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

Scientific Reports, 2023
Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene ...
Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar   +16 more
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ABCA4 disease progression and a proposed strategy for gene therapy [PDF]

Human Molecular Genetics, 2008
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, but only some are thought to progress to retina-wide blindness.
Artur V, Cideciyan, Malgorzata, Swider, Tomas S, Aleman, Yaroslav, Tsybovsky, Sharon B, Schwartz, Elizabeth A M, Windsor, Alejandro J, Roman, Alexander, Sumaroka, Janet D, Steinberg, Samuel G, Jacobson, Edwin M, Stone, Krzysztof, Palczewski   +11 more
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Analysis of theABCA4Gene by Next-Generation Sequencing [PDF]

Investigative Opthalmology & Visual Science, 2011
To find all possible disease-associated variants in coding sequences of the ABCA4 gene in a large cohort of patients diagnosed with ABCA4-associated diseases.One hundred sixty-eight patients who had been clinically diagnosed with Stargardt disease, cone-rod dystrophy, and other ABCA4-associated phenotypes were prescreened for mutations in ABCA4 with ...
Jana, Zernant, Carl, Schubert, Kate M, Im, Tomas, Burke, Carolyn M, Brown, Gerald A, Fishman, Stephen H, Tsang, Peter, Gouras, Michael, Dean, Rando, Allikmets   +9 more
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Characterization of the functional roles of ABCA4 in the pathology of inherited visual disease

, 2021
Biswas-Fiss, EstherBiswas, SubhasisThe retina-specific ABC transporter, ABCA4, is localized in the rod and cone photoreceptor outer segment discs and is essential for the proper functioning of the visual cycle.
Patel, Meera J.
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Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

Stem Cell Research, 2021
Mutations in ABCA4 gene are causative for autosomal recessive Stargardt disease (STGD1), the most common inherited retinal dystrophy. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a STGD1 patient carrying biallelic c.
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D. Wilton, Samuel McLenachan, Fred K. Chen   +11 more
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Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population

Oftalʹmologiâ, 2021
Aim: to study genotype-phenotype correlations in patients with inherited retinal diseases with mutations in ABCA4 gene in Russian Federation.Patients and methods.
I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, A. B. Chernyak, S. V. Milash, Yu. A. Bobrovskaya, N. A. Urakova, N. Sh. Kokoeva, S. I. Kutsev, R. A. Zinchenko   +9 more
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Formulation and efficacy of ECO/pRHO-ABCA4-SV40 nanoparticles for nonviral gene therapy of Stargardt disease in a mouse model [PDF]

, 2020
It is still a challenge to develop gene replacement therapy for retinal disorders caused by mutations in large genes, such as Stargardt disease (STGD). STGD is caused by mutations in ABCA4 gene.
Schilb, Andrew L., Sun, Wenyu, Palczewski, Krzysztof, Schilb, Andrew L, Kern, Timothy S., Lu, Zheng-Rong, Sun, Da, Wei, Cheng, Naderi, Amirreza, Gao, Song-Qi, Scheidt, Josef, Lee, Sangjoon, Kern, Timothy S   +12 more
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