Acyl-CoA synthetase 6 controls rod photoreceptor function and survival by shaping the phospholipid composition of retinal membranes

Autor: Yixiao Wang, Silke Becker, Stella Finkelstein, Frank M. Dyka, Haitao Liu, Mark Eminhizer, Ying Hao, Richard S. Brush, William J. Spencer, Vadim Y. Arshavsky, John D. Ash, Jianhai Du, Martin-Paul Agbaga, Frans Vinberg, Jessica M. Ellis, Ekaterina S. Lobanova

Publikováno v: Communications Biology, Vol 7, Iss 1, Pp 1-11 (2024)

Abstract The retina is light-sensitive neuronal tissue in the back of the eye. The phospholipid composition of the retina is unique and highly enriched in polyunsaturated fatty acids, including docosahexaenoic fatty acid (DHA). While it is generally

Externí odkaz: https://doaj.org/article/ad85367e74fe4ef684827fbc22b57206

Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration

Autor: Lei Xu, William N. Ruddick, Susan N. Bolch, Mikael Klingeborn, Frank M. Dyka, Manoj M. Kulkarni, Chiab P. Simpson, William A. Beltran, Catherine Bowes Rickman, W. Clay Smith, Astra Dinculescu

Publikováno v: The American Journal of Pathology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3630ed6769ffec2b0bff818b8a0242c6
https://doi.org/10.1016/j.ajpath.2022.10.004

AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.

Autor: Astra Dinculescu, Rachel M Stupay, Wen-Tao Deng, Frank M Dyka, Seok-Hong Min, Sanford L Boye, Vince A Chiodo, Carolina E Abrahan, Ping Zhu, Qiuhong Li, Enrica Strettoi, Elena Novelli, Kerstin Nagel-Wolfrum, Uwe Wolfrum, W Clay Smith, William W Hauswirth

Publikováno v: PLoS ONE, Vol 11, Iss 2, p e0148874 (2016)

Usher syndrome type III (USH3A) is an autosomal recessive disorder caused by mutations in clarin-1 (CLRN1) gene, leading to progressive retinal degeneration and sensorineural deafness. Efforts to develop therapies for preventing photoreceptor cell lo

Externí odkaz: https://doaj.org/article/5f7b7bb069be4541947fe9fe7770c119

Clarin‐1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome

Autor: Lei Xu, Omar Akil, William W. Hauswirth, Seth Blackshaw, Clayton Santiago, Frank M. Dyka, John D. Ash, Susan Bolch, Kirill A. Martemyanov, James T. Handa, Astra Dinculescu, W. Clay Smith, Ekaterina S. Lobanova, Yuchen Wang

Publikováno v: The Journal of Pathology

Usher syndrome type 3 (USH3) is an autosomal recessively inherited disorder caused by mutations in the gene clarin‐1 (CLRN1), leading to combined progressive hearing loss and retinal degeneration. The cellular distribution of CLRN1 in the retina re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb7eaf5732e656afd4ef0c9337185882
http://europepmc.org/articles/PMC7003947

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

Autor: Omar Akil, Saaid Safieddine, Jacques Boutet de Monvel, Charlotte Calvet, Frank M. Dyka, Ghizlene Lahlou, Sylvie Nouaille, Jean-Pierre Hardelin, Paul Avan, Alice Emptoz, Christine Petit, William W. Hauswirth, Lawrence R. Lustig

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩

Significance In humans, inner ear development is completed in utero, with hearing onset at ∼20 weeks of gestation. However, genetic forms of congenital deafness are typically diagnosed during the neonatal period. Gene therapy approaches in animal m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a59eb91d9ac9543df3524f03209acd9
https://doi.org/10.1073/pnas.1817537116