Results 21 to 30 of about 971 (147)

Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A

Stem Cell Research, 2023
Pathogenic variants in ABCA4 are associated with Stargardt disease (STGD1), an autosomal recessive macular dystrophy characterized by bilateral central vision loss due to a progressive degeneration of retinal cells. An induced pluripotent stem cell (iPSC)
Nuria Suárez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M. Bax, Carel B. Hoyng, Frans P.M. Cremers, Alejandro Garanto, Rob W.J. Collin   +7 more
doaj   +1 more source

Long chain acyl‐CoA synthetase 6 facilitates the local distribution of di‐docosahexaenoic acid‐ and ultra‐long‐chain‐PUFA‐containing phospholipids in the retina to support normal visual function in mice

The FASEB Journal, Volume 37, Issue 9, September 2023., 2023
Di‐DHA‐ and ULC‐PUFA‐containing phospholipids in the OS disk membrane layer of the retina were decreased in ACSL6‐deficient mice. ACSL6‐deficient mice developed impaired photoreceptor‐derived visual function and age‐dependent retinal degeneration. These results demonstrate that ACSL6 facilitates the local enrichment of di‐DHA‐ and ULC‐PUFA‐containing ...
Sayoko Kuroha, Yusaku Katada, Yosuke Isobe, Haruki Uchino, Kyosuke Shishikura, Takashi Nirasawa, Kazuo Tsubota, Kazuno Negishi, Toshihide Kurihara, Makoto Arita   +9 more
wiley   +1 more source

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
doaj   +1 more source

Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis

Journal of Anatomy, Volume 243, Issue 2, Page 186-203, August 2023., 2023
Retinal organoids have become an exceedingly useful tool in recent years for understanding retinogenesis, particularly in the context of retinal disease. Pluripotent stem cells (PSCs) can be derived directly from somatic cells of affected patients, or alternatively, existing pluripotent lines can undergo gene editing to harbour mutations of interest ...
Avril Watson, Majlinda Lako
wiley   +1 more source

Stargardt disease and progress in therapeutic strategies [PDF]

, 2021
Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances and bilateral centrifugal vision loss.
Samuel McLenachan (502209), Rachael C. Heath Jeffery (9513021), Fred K. Chen (9425659), Di Huang (360305), May Thandar Aung-Htut (11353290), Sue Fletcher (77445), Steve D. Wilton (9425656)   +6 more
core   +2 more sources

The STArgardt Remofuscin Treatment Trial (STARTT): design and baseline characteristics of enrolled Stargardt patients [version 3; peer review: 2 approved]

Open Research Europe, 2022
Background: This report describes the study design and baseline characteristics of patients with Stargardt disease (STGD1) enrolled in the STArgardt Remofuscin Treatment Trial (STARTT). Methods: In total, 87 patients with genetically confirmed STGD1 were
Philipp T. Möller, Patty P.A. Dhooge, Andrew J. Lotery, Camiel J.F. Boon, Maurizio Battaglia Parodi, Philipp Herrmann, Mario G. Fsadni, Wolfgang Klein, Oliver Jungmann, Thomas H. Wheeler-Schilling, Frank G. Holz, Hans Müller, Tobias M. Peters, Steffen Schmitz-Valckenberg, Carel B. Hoyng, Katarina Stingl   +15 more
doaj   +1 more source

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

Human Mutation, Volume 2023, Issue 1, 2023., 2023
Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be difficult due to (1) the high number of benign and pathogenic variants in the gene; (2) the presence of many rare ABCA4 variants; (3) the presence of complex alleles for which ...
Stéphanie S. Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, Marieke De Bruyne, Madhulatha Pantrangi, Elfride De Baere, Robert B. Hufnagel, Claire-Marie Dhaenens, Frans P. M. Cremers, Jian-Min Chen   +9 more
wiley   +1 more source

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Stem Cell Research, 2021
Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with ...
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, Fred K. Chen, Samuel McLenachan   +11 more
doaj   +1 more source

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

Human Mutation, Volume 43, Issue 12, Page 2234-2250, December 2022., 2022
Abstract Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age‐related MD (AMD) expression.
Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman, Zelia Corradi, Mubeen Khan, Anneke I. den Hollander, G. Jane Farrar, Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, Femke Bults, Erica G. M. Boonen, Patrick Saunders, MD Study Group, Susanne Roosing, Frans P. M. Cremers   +15 more
wiley   +1 more source

Human pluripotent stem cells for the modelling of retinal pigment epithelium homeostasis and disease: A review

Clinical &Experimental Ophthalmology, Volume 50, Issue 6, Page 667-677, August 2022., 2022
Abstract Human pluripotent stem cells (hPSCs), which include induced pluripotent stem cells and embryonic stem cells, are powerful tools for studying human development, physiology and disease, including those affecting the retina. Cells from selected individuals, or specific genetic backgrounds, can be differentiated into distinct cell types allowing ...
Jenna C Hall, Daniel Paull, Alice Pébay, Grace E. Lidgerwood   +3 more
wiley   +1 more source