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Select item 114834711.

Genotype–Phenotype Association in ABCA4-Associated Retinopathy

Maximilian Pfau, Wadih M. Zein, Laryssa A. Huryn, Catherine A. Cukras, Brett G. Jeffrey, Robert B. Hufnagel, Brian P. Brooks

Adv Exp Med Biol. Author manuscript; available in PMC 2024 Oct 17.

Published in final edited form as: Adv Exp Med Biol. 2023; 1415: 289–295. doi: 10.1007/978-3-031-27681-1_42

PMCID:: PMC11483471

Abstract Article PDF–311K

Select item 114741992.

Virus-like particles as robust tools for functional assessment: Deciphering the pathogenicity of ABCA4 genetic variants of uncertain significance

Senem Cevik, Subhasis B. Biswas, Arit Ghosh, Esther E. Biswas-Fiss

J Biol Chem. 2024 Oct; 300(10): 107739. Published online 2024 Aug 31. doi: 10.1016/j.jbc.2024.107739

PMCID:: PMC11474199

Abstract Article PDF–3.3M

Select item 114058003.

Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease

Jessica Fernandes Scortecci, Fabian A. Garces, Jai K. Mahto, Laurie L. Molday, Filip Van Petegem, Robert S. Molday

J Biol Chem. 2024 Sep; 300(9): 107666. Published online 2024 Aug 14. doi: 10.1016/j.jbc.2024.107666

PMCID:: PMC11405800

Abstract Article PDF–2.9M

Select item 113357754.

Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants

Oscar F. Chacon-Camacho, Nancy Xilotl-de Jesús, Ernesto Calderón-Martínez, Vianey Ordoñez-Labastida, M. Isabel Neria-Gonzalez, Rocío Villafuerte-de la Cruz, Augusto Martinez-Rojas, Juan Carlos Zenteno

Mol Genet Genomics. 2024; 299(1): 79. Published online 2024 Aug 20. doi: 10.1007/s00438-024-02174-x

PMCID:: PMC11335775

Abstract Article PDF–912K

Select item 111732105.

Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy

Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Sandro Banfi, Marianthi Karali, Frans P. M. Cremers, Rebekkah J. Hitti-Malin

Int J Mol Sci. 2024 Jun; 25(11): 5940. Published online 2024 May 29. doi: 10.3390/ijms25115940

PMCID:: PMC11173210

Abstract Article PDF–1.2M

Select item 107842256.

Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease

Senem Cevik, Nutsuchar Wangtiraumnuay, Kristof Van Schelvergem, Mai Tsukikawa, Jenina Capasso, Subhasis B. Biswas, Barry Bodt, Alex V. Levin, Esther Biswas-Fiss

Mol Vis. 2023; 29: 217–233. Published online 2023 Oct 25.

PMCID:: PMC10784225

Abstract Article PDF–1.0M

Select item 106714887.

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population

Vitaly V. Kadyshev, Ekaterina A. Alekseeva, Vladimir V. Strelnikov, Anna A. Stepanova, Alexander V. Polyakov, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko

Int J Mol Sci. 2023 Nov; 24(22): 16231. Published online 2023 Nov 12. doi: 10.3390/ijms242216231

PMCID:: PMC10671488

Abstract Article PDF–2.1M

Select item 105861968.

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing

Melita Kaltak, Zelia Corradi, Rob W J Collin, Jim Swildens, Frans P M Cremers

Hum Mol Genet. 2023 Nov 1; 32(21): 3078–3089. Published online 2023 Aug 9. doi: 10.1093/hmg/ddad129

PMCID:: PMC10586196

Abstract Article PDF–1.2M

Select item 105302399.

Retina and RPE Lipid Profile Changes Associated with ABCA4 Associated Stargardt's Maculopathy

Mitra Farnoodian, Devika Bose, Francesca Barone, Luke Mathew Nelson, Marisa Boyle, Bokkyoo Jun, Khanh Do, William Gordon, Marie-Audrey Kautzmann Guerin, Rasangi Perera, Tiziana Cogliati, Ruchi Sharma, Brian.P Books, Nicolas Bazan, Kapil Bharti

Pharmacol Ther. Author manuscript; available in PMC 2024 Sep 1.

Published in final edited form as: Pharmacol Ther. 2023 Sep; 249: 108482. Published online 2023 Jun 27. doi: 10.1016/j.pharmthera.2023.108482

PMCID:: PMC10530239

Abstract Article PDF–892K

Select item 1051676510.

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

Jana Sajovic, Andrej Meglič, Zelia Corradi, Mubeen Khan, Aleš Maver, Martina Jarc Vidmar, Marko Hawlina, Frans P. M. Cremers, Ana Fakin

Invest Ophthalmol Vis Sci. 2023 Sep; 64(12): 33. Published online 2023 Sep 20. doi: 10.1167/iovs.64.12.33

PMCID:: PMC10516765

Abstract Article PDF–3.3M

Select item 1049561011.

Clinical Observation and Genotype-Phenotype Analysis of ABCA4-Related Hereditary Retinal Degeneration before Gene Therapy

Xuan Xiao, Lin Ye, Changzheng Chen, Hongmei Zheng, Jiajia Yuan

Curr Gene Ther. 2022 Jun 1; 22(4): 342–351. Published online 2022 Jun 1. doi: 10.2174/1566523222666220216101539

PMCID:: PMC10495610

Abstract Article PDF–6.7M

Select item 1042856812.

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers

J Transl Med. 2023; 21: 546. Published online 2023 Aug 16. doi: 10.1186/s12967-023-04406-x

PMCID:: PMC10428568

Abstract Article PDF–2.1M

Select item 1037538513.

Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy

Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Maria Pia Manitto, Elisabetta Martina, Emanuela Aragona, Francesco Bandello, Maurizio Battaglia Parodi

JAMA Ophthalmol. 2023 Sep; 141(9): 826–833. Published online 2023 Jul 27. doi: 10.1001/jamaophthalmol.2023.3188

PMCID:: PMC10375385

Abstract Article

Select item 1025669814.

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

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

Sci Rep. 2023; 13: 9380. Published online 2023 Jun 9. doi: 10.1038/s41598-023-35889-9

PMCID:: PMC10256698

Abstract Article PDF–1.7M

Select item 1017901215.

Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes

Aneta Ścieżyńska, Krzysztof Łuszczyński, Marcin Radziszewski, Michał Komorowski, Marta Soszyńska, Natalia Krześniak, Kateryna Shevchenko, Anna Lutyńska, Jacek Malejczyk

Int J Mol Sci. 2023 May; 24(9): 8275. Published online 2023 May 5. doi: 10.3390/ijms24098275

PMCID:: PMC10179012

Abstract Article PDF–3.8M

Select item 1012713616.

Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt disease

Tongzhou Xu, Laurie L. Molday, Robert S. Molday

J Biol Chem. 2023 May; 299(5): 104614. Published online 2023 Mar 16. doi: 10.1016/j.jbc.2023.104614

PMCID:: PMC10127136

Abstract Article PDF–2.5M

Select item 979001317.

Functional characterization of ABCA4 genetic variants related to Stargardt disease

Bo Min Kim, Hyo Sook Song, Jin-Young Kim, Eun Young Kwon, Seung Yeon Ha, Minsuk Kim, Ji Ha Choi

Sci Rep. 2022; 12: 22282. Published online 2022 Dec 24. doi: 10.1038/s41598-022-26912-6

PMCID:: PMC9790013

Abstract Article PDF–1.5M

Select item 952733018.

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography

Sophie L. Glinton, Antonio Calcagni, Watjana Lilaonitkul, Nikolas Pontikos, Sandra Vermeirsch, Gongyu Zhang, Gavin Arno, Siegfried K. Wagner, Michel Michaelides, Pearse A. Keane, Andrew R. Webster, Omar A. Mahroo, Anthony G. Robson

Transl Vis Sci Technol. 2022 Sep; 11(9): 34. Published online 2022 Sep 30. doi: 10.1167/tvst.11.9.34

PMCID:: PMC9527330

Abstract Article PDF–3.8M

Select item 947545319.

The N⁶-methyladenosine-mediated lncRNA WEE2-AS1 promotes glioblastoma progression by stabilizing RPN2

Boyan Li, Rongrong Zhao, Wei Qiu, Ziwen Pan, Shulin Zhao, Yanhua Qi, Jiawei Qiu, Shouji Zhang, Qindong Guo, Yang Fan, Hao Xu, Ming Li, Gang Li, Hao Xue

Theranostics. 2022; 12(14): 6363–6379. Published online 2022 Aug 29. doi: 10.7150/thno.74600