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Select item 111494561.

A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility

Mohamed M. Sylla, Masha Kolesinkova, Bruna Lopes da Costa, Irene H. Maumenee, Stephen H. Tsang, Peter M. J. Quinn

Doc Ophthalmol. Author manuscript; available in PMC 2024 Jun 4.

Published in final edited form as: Doc Ophthalmol. 2023 Dec; 147(3): 217–224. Published online 2023 Oct 7. doi: 10.1007/s10633-023-09951-w

PMCID:: PMC11149456

Abstract Article PDF–1.5M

Select item 110175932.

Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis

Ahmad Daher, Malak Banjak, Jinane Noureldine, Joseph Nehme, Said El Shamieh

BMC Ophthalmol. 2024; 24: 167. Published online 2024 Apr 15. doi: 10.1186/s12886-024-03419-4

PMCID:: PMC11017593

Abstract Article PDF–3.6M

Select item 109929963.

Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina

Isabel F Stehle, Joel A Imventarza, Franziska Woerz, Felix Hoffmann, Karsten Boldt, Tina Beyer, Peter MJ Quinn, Marius Ueffing

Life Sci Alliance. 2024 Jun; 7(6): e202302440. Published online 2024 Apr 3. doi: 10.26508/lsa.202302440

PMCID:: PMC10992996

Abstract Article PDF–4.6M

Select item 105558564.

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

Am J Ophthalmol. 2023 Feb; 246: 107–121. doi: 10.1016/j.ajo.2022.09.002

PMCID:: PMC10555856

Abstract Article PDF–2.2M

Select item 105454765.

CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids

Thilo M. Buck, Peter M.J. Quinn, Lucie P. Pellissier, Aat A. Mulder, Aldo Jongejan, Xuefei Lu, Nanda Boon, Daniëlle Koot, Hind Almushattat, Christiaan H. Arendzen, Rogier M. Vos, Edward J. Bradley, Christian Freund, Harald M.M. Mikkers, Camiel J.F. Boon, Perry D. Moerland, Frank Baas, Abraham J. Koster, Jacques Neefjes, Ilana Berlin, Carolina R. Jost, Jan Wijnholds

Stem Cell Reports. 2023 Sep 12; 18(9): 1793–1810. Published online 2023 Aug 3. doi: 10.1016/j.stemcr.2023.07.001

PMCID:: PMC10545476

Abstract Article PDF–8.7M

Select item 105311656.

Foveal Hypoplasia in CRB1-Related Retinopathies

Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson, Mariya Moosajee

Int J Mol Sci. 2023 Sep; 24(18): 13932. Published online 2023 Sep 11. doi: 10.3390/ijms241813932

PMCID:: PMC10531165

Abstract Article PDF–1.4M

Select item 94821907.

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review

Wenhua Duan, Taicheng Zhou, Huawei Jiang, Minhui Zhang, Min Hu, Liwei Zhang

BMC Med Genomics. 2022; 15: 197. Published online 2022 Sep 17. doi: 10.1186/s12920-022-01356-z

PMCID:: PMC9482190

Abstract Article PDF–1.0M

Select item 94339388.

Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB

Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan

EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698

PMCID:: PMC9433938

Abstract Article PDF–9.3M

Select item 87009769.

In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention

Julia-Sophia Bellingrath, Michelle E. McClements, Maria Kaukonen, Manuel Dominik Fischer, Robert E. MacLaren

Genes (Basel) 2021 Dec; 12(12): 1908. Published online 2021 Nov 27. doi: 10.3390/genes12121908

PMCID:: PMC8700976

Abstract Article PDF–2.2M

Select item 865778410.

Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier

Int J Mol Sci. 2021 Dec; 22(23): 12642. Published online 2021 Nov 23. doi: 10.3390/ijms222312642

PMCID:: PMC8657784

Abstract Article PDF–3.3M

Select item 797079811.

Structural determinants driving the binding process between PDZ domain of wild type human PALS1 protein and SLiM sequences of SARS-CoV E proteins

Ettore Lo Cascio, Angelo Toto, Gabriele Babini, Flavio De Maio, Maurizio Sanguinetti, Alvaro Mordente, Stefano Della Longa, Alessandro Arcovito

Comput Struct Biotechnol J. 2021; 19: 1838–1847. Published online 2021 Mar 18. doi: 10.1016/j.csbj.2021.03.014

PMCID:: PMC7970798

Abstract Article PDF–2.2M

Select item 788392812.

Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes

Aymane Bouzidi, Majida Charif, Adil Bouzidi, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat, Guy Lenaers

Mol Vis. 2021; 27: 17–25. Published online 2021 Jan 15.

PMCID:: PMC7883928

Abstract Article PDF–1.5M

Select item 786343013.

Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation

Xiaoqing Fan, Haoran Yang, Chenggang Zhao, Lizhu Hu, Delong Wang, Ruiting Wang, Zhiyou Fang, Xueran Chen

Stem Cell Res Ther. 2021; 12: 107. Published online 2021 Feb 4. doi: 10.1186/s13287-021-02175-2

PMCID:: PMC7863430

Abstract Article PDF–6.5M

Select item 733507714.

Comprehensive identification of mRNA isoforms reveals the diversity of neural cell-surface molecules with roles in retinal development and disease

Thomas A. Ray, Kelly Cochran, Chris Kozlowski, Jingjing Wang, Graham Alexander, Martha A. Cady, William J. Spencer, Philip A. Ruzycki, Brian S. Clark, Annelies Laeremans, Ming-Xiao He, Xiaoming Wang, Emily Park, Ying Hao, Alessandro Iannaccone, Gary Hu, Olivier Fedrigo, Nikolai P. Skiba, Vadim Y. Arshavsky, Jeremy N. Kay

Nat Commun. 2020; 11: 3328. Published online 2020 Jul 3. doi: 10.1038/s41467-020-17009-7

PMCID:: PMC7335077

Abstract Article PDF–7.4M

Select item 671373615.

Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins

Sascha E. Dho, Nancy Silva-Gagliardi, Fabio Morgese, Etienne Coyaud, Emily Lamoureux, Donna M. Berry, Brian Raught, C. Jane McGlade

Sci Rep. 2019; 9: 12471. Published online 2019 Aug 28. doi: 10.1038/s41598-019-48902-x

PMCID:: PMC6713736

Abstract Article PDF–5.6M

Select item 666112816.

Mohammad Saberi, Zahra Golchehre, Arezou Karamzade, Mona Entezam, Yeganeh Eshaghkhani, Elaheh Alavinejad, Hassan Khojasteh Jafari, Mohammad Keramatipour

Iran Biomed J. 2019 Sep; 23(5): 362–368. doi: 10.29252/.23.5.362

PMCID:: PMC6661128

Abstract Article PDF–861K

Select item 652295417.

Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5

Peter M. Quinn, Thilo M. Buck, Aat A. Mulder, Charlotte Ohonin, C. Henrique Alves, Rogier M. Vos, Monika Bialecka, Tessa van Herwaarden, Elon H.C. van Dijk, Mays Talib, Christian Freund, Harald M.M. Mikkers, Rob C. Hoeben, Marie-José Goumans, Camiel J.F. Boon, Abraham J. Koster, Susana M. Chuva de Sousa Lopes, Carolina R. Jost, Jan Wijnholds

Stem Cell Reports. 2019 May 14; 12(5): 906–919. Published online 2019 Apr 4. doi: 10.1016/j.stemcr.2019.03.002

PMCID:: PMC6522954

Abstract Article PDF–7.2M

Select item 594565318.

A clinical and molecular characterisation of CRB1-associated maculopathy

Kamron N. Khan, Anthony Robson, Omar A. R. Mahroo, Gavin Arno, Chris F. Inglehearn, Monica Armengol, Naushin Waseem, Graham E. Holder, Keren J. Carss, Lucy F. Raymond, Andrew R. Webster, Anthony T. Moore, Martin McKibbin, Maria M. van Genderen, James A. Poulter, Michel Michaelides, UK Inherited Retinal Disease Consortium

Eur J Hum Genet. 2018 May; 26(5): 687–694. Published online 2018 Feb 1. doi: 10.1038/s41431-017-0082-2

PMCID:: PMC5945653

Abstract Article PDF–579K

Select item 556118719.

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum

Sci Rep. 2017; 7: 8654. Published online 2017 Aug 17. doi: 10.1038/s41598-017-09035-1

PMCID:: PMC5561187

Abstract Article PDF–2.4M

Select item 538068220.

The CRB1 Complex: Following the Trail of Crumbs to a Feasible Gene Therapy Strategy

Peter M. Quinn, Lucie P. Pellissier, Jan Wijnholds

Front Neurosci. 2017; 11: 175. Published online 2017 Apr 5. doi: 10.3389/fnins.2017.00175

PMCID:: PMC5380682

Abstract Article PDF–3.7M

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