Results 71 to 80 of about 971 (147)

Interruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease

Scientific Reports
Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life
Fabiana Sassone, Catherine Estay-Ahumada, Michel J. Roux, Dominique Ciocca, Paola Rossolillo, Marie-Christine Birling, Janet R. Sparrow, Diego Montenegro, David Hicks   +8 more
doaj   +1 more source

Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations

Stem Cell Research, 2019
Recessive Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene, which plays a role as a retinaldehyde flippase in the photoreceptor outer segments.
Marina Riera, Achchhe Patel, Anniken Burés-Jelstrup, Borja Corcostegui, Stanley Chang, Esther Pomares, Barbara Corneo, Janet R. Sparrow   +7 more
doaj   +1 more source

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes [PDF]

, 2018
Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of the ABCA4 locus in STGD1 patients identifies two expected disease-causing alleles in ∼75% of patients and only one mutation in ∼15%
Nagasaki, Takayuki, Mette Bertelsen, Jana Zernant, Thomas Rosenberg, Peter Gouras, Winston Lee, Stephen H. Tsang, Gerald A. Fishman, Fishman, Gerald A., Bertelsen, Mette, Rosenberg, Thomas, Gouras, Peter, Zernant, Jana, Lee, Winston, Tsang, Stephen H., Allikmets, Rando, Takayuki Nagasaki, Collison, Frederick T., Rando Allikmets, Frederick T. Collison   +19 more
core   +1 more source

Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease [PDF]

, 2017
Contains fulltext : 170526.pdf (Publisher’s version ) (Open Access)Purpose: To compare the disease course of retinal pigment epithelium (RPE) atrophy secondary to age-related macula degeneratio (AMD) and late-onset Stargardt disease ...
Mauschitz, M.M., Stanley Lambertus, Monika Fleckenstein, Eveline Kersten, Matthias M. Mauschitz, Schmitz-Valckenberg, S, Hoyng, C.B., Schmid, M, Schmid, M., Bax, N.M., Lambertus, S., Nathalie M. Bax, Nadal, J., Holz, FG, Kersten, E., Hoyng, CB, Holz, F.G., Jennifer Nadal, Lindner, M., Carel B. Hoyng, Foveal sparing Atrophy Study Team (FAST), Anna Lüning, Frank G. Holz, Kersten, E, Luning, A., Steffen Schmitz-Valckenberg, Schmitz-Valckenberg, S., Lindner, Moritz, null null, Lambertus, S, Mauschitz, MM, Matthias Schmid, Lüning, A, Lindner, M, Fleckenstein, M, Moritz Lindner, Bax, NM, Fleckenstein, M., Nadal, J   +38 more
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Asymmetric Inter-Eye Progression in Stargardt Disease [PDF]

, 2020
PURPOSE. Asymmetry in disease progression between left and right eyes can occur in Stargardt disease (STGD1), and this needs to be considered in novel therapeutic trials with a fellow-eye paired controlled design.
Frans P M Cremers, B Jeroen Klevering, Thomas Theelen, Stanley Lambertus, Carel B Hoyng, Joannes M M Groenewoud, Gert Jan Van Der Wilt, Nathalie M Bax   +7 more
core  

New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

, 2000
PURPOSE. TO assess the mutation spectrum in the ABCR gene and clinical phenotypes in Italian families with autosomal recessive Stargardt disease (STGD1) and fundus flavimaculatus (FFM). METHODS.
Hutchinson A, D'Urso M, Simonelli F, Rinaldi E, Atkinson A, Testa F, Allikmets R., DE CRECCHIO, GIUSEPPE, Dean M   +8 more
core   +1 more source

QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease

Scientific Reports
Stargardt disease type 1 (STGD1), the most common form of hereditary macular dystrophy, can be caused by biallelic combinations of over 2200 variants in the ABCA4 gene. This leads to reduced or absent ABCA4 protein activity, resulting in toxic metabolite
Melita Kaltak, Petra de Bruijn, Willemijn van Leeuwen, Gerard Platenburg, Frans P. M. Cremers, Rob W. J. Collin, Jim Swildens   +6 more
doaj   +1 more source

Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4

Molecular Therapy: Nucleic Acids
Deep-intronic (DI) variants represent approximately 10%–12% of disease-causing genetic defects in ABCA4-associated Stargardt disease (STGD1). Although many of these DI variants are amenable to antisense oligonucleotide-based splicing-modulation therapy ...
Irene Vázquez-Domínguez, Mert Öktem, Florian A. Winkelaar, Thai Hoang Nguyen, Anita D.M. Hoogendoorn, Eleonora Roschi, Galuh D.N. Astuti, Raoul Timmermans, Nuria Suárez-Herrera, Ilaria Bruno, Albert Ruiz-Llombart, Joseph Brealey, Olivier G. de Jong, Rob W.J. Collin, Enrico Mastrobattista, Alejandro Garanto   +15 more
doaj   +1 more source

Fundus autofluorescence, spectral‐domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model

, 2020
Stargardt disease (STGD1), known as inherited retinal dystrophy, is caused by ABCA4 mutations. The pigmented Abca4-/- mouse strain only reflects the early stage of STGD1 since it is devoid of retinal degeneration.
Illing, Barbara, Radu, Roxana A, Tschulakow, Alexander, Jiang, Zhichun, Fang, Yuan, Taubitz, Tatjana, Julien‐Schraermeyer, Sylvie, Schraermeyer, Ulrich, Biesemeier, Antje   +8 more
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Outcome of ABCA4 microarray screening in routine clinical practice [PDF]

, 2009
Contains fulltext : 81657.pdf (Publisher’s version ) (Open Access)PURPOSE: To retrospectively analyze the clinical characteristics of patients who were screened for mutations with the ATP-binding cassette transporter gene ABCA4 (ABCA4 ...
Klevering, B.J., Hoefsloot, L.H., Ernest, P.J., Boon, C.J.F., Hoyng, C.B.   +4 more
core   +1 more source