Results 101 to 110 of about 2,525,884 (192)

Rapid and Reliable Quantification of Prime Editing Targeting Within the Porcine ABCA4 Gene Using a BRET-Based Sensor. [PDF]

Nucleic Acid Ther, 2023
Wimmer T, Sawinski H, Urban AM, Motlik J, Stieger K.   +4 more
europepmc   +1 more source

Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5. [PDF]

Am J Ophthalmol, 2022
Parker MA, Erker LR, Audo I, Choi D, Mohand-Said S, Sestakauskas K, Benoit P, Appelqvist T, Krahmer M, Ségaut-Prévost C, Lujan BJ, Faridi A, Chegarnov EN, Steinkamp PN, Ku C, da Palma MM, Barale PO, Ayelo-Scheer S, Lauer A, Stout T, Wilson DJ, Weleber RG, Pennesi ME, Sahel JA, Yang P.   +24 more
europepmc   +1 more source

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs [PDF]

, 2017
PURPOSE. Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene.
Rating, P., Weber, Bernhard H. F., Schulz, H. L., Spital, G., Hufendiek, K., Jägle, H., Kellner, U., Rüther, K., Grassmann, F.   +8 more
core   +1 more source

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Molecular vision, 2018
The aim of this study was to analyze and report pathogenic variants in the ABCA4 gene in Brazilian patients with a clinical diagnosis of Stargardt disease.This retrospective study evaluated variants in the ABCA4 gene in Brazilian patients with Stargardt disease.
Mariana Vallim, Salles, Fabiana Louise, Motta, Renan, Martin, Rafael, Filippelli-Silva, Elton, Dias da Silva, Patricia, Varela, Kárita Antunes, Costa, John PeiWen, Chiang, João Bosco, Pesquero, Juliana-Maria Ferraz, Sallum   +9 more
openaire   +1 more source

Computational approach from gene to structure analysis of the human ABCA4 transporter involved in genetic retinal diseases

, 2017
PURPOSE. The aim of this article is to report the investigation of the structural features of ABCA4, a protein associated with a genetic retinal disease. A new database collecting knowledge of ABCA4 structure may facilitate predictions about the possible
Trezza, Alfonso, Bernini, Andrea, Langella, Andrea, Ascher, David B., Elisabetta Pelo, Spiga, Ottavia, Ottavia Spiga, Stanislao Rizzo, Pelo, Elisabetta, Andrea Bernini, Sodi, Andrea, Niccolai, Neri, David B. Ascher, Douglas E. V. Pires, Andrea Sodi, Alfonso Trezza, Pires, Douglas Eduardo Valente, Pires, Douglas E. V., Passerini, Ilaria, Rizzo, Stanislao, Ilaria Passerini, Ascher, David Benjamin, Neri Niccolai, Andrea Langella   +23 more
core   +2 more sources

Gene therapy for Stargardt and other ABCA4-related diseases: lessons from RPE65-LCA trials

, 2010
Stargardt disease is the most common among recessively inherited macular dystrophies, with 600 new disease cases diagnosed every year. It is caused by mutations in ABCA4, a photoreceptor-bound gene involved in normal visual cycle kinetics.
Silva, Nuno Filipe Aguiar
core  

Effective delivery of large genes to the retina by dual AAV vectors

EMBO Molecular Medicine, 2013
Retinal gene therapy with adeno‐associated viral (AAV) vectors is safe and effective in humans. However, AAV's limited cargo capacity prevents its application to therapies of inherited retinal diseases due to mutations of genes over 5 kb, like Stargardt ...
Ivana Trapani, Pasqualina Colella, Andrea Sommella, Carolina Iodice, Giulia Cesi, Sonia de Simone, Elena Marrocco, Settimio Rossi, Massimo Giunti, Arpad Palfi, Gwyneth J Farrar, Roman Polishchuk, Alberto Auricchio   +12 more
doaj   +1 more source

Generation and characterization of a Stargardt’s disease-specific induced pluripotent stem cell line (LVPEIi008-A) with a homozygous nonsense mutation in exon 44 of ABCA4

Stem Cell Research
The Stargardt’s Disease, Type 1 (STGD1) is associated with the loss of function mutations in ABCA4. This gene codes for a retina-specific, ATP-binding cassette (ABC) family transporter, involved in the transport of the key visual cycle intermediate, all ...
Divya Pidishetty, Savitri Maddileti, Sudipta Mahato, Trupti Agrawal, Milind Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan   +7 more
doaj   +1 more source

Longitudinal scRNA-seq of retinal organoids derived from Stargardt disease patient with ABCA4 mutation

Scientific Data
Stargardt disease (STGD), predominantly caused by mutations in the ABCA4 gene, is a leading cause of inherited retinal degeneration. Although several lines of mice expressing disease-causing variants have been produced, mice due to the lack of macular ...
Yingke Zhao, Yun Cheng, Ting Li, Jiawen Wu, Chenchen Li, Shenghai Zhang, Jihong Wu   +6 more
doaj   +1 more source

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies [PDF]

Purpose: Biallelic pathogenic variants in the gene encoding the ATP-binding cassette transporter ABCA4 are the leading cause of irreversible vision loss in inherited retinal dystrophies (IRDs).
Knappskog, Per Morten, Bredrup, Cecilie, Holtan, Josephine Prener, Aukrust, Ingvild, Molday, Laurie, Molday, Robert S., Aslaksen, Sigrid, Rødahl, Eyvind, Jansson, Ragnhild Wivestad, Bragadottir, Ragnheidur, Berland, Siren, Bratland, Eirik   +11 more
core   +1 more source