Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis

Autor: Sundeep Chandra, Katherine Bibi, Charles A. O'Neill, John Sinclair, Daniella P. Vansteenkiste, Martin L. Katz, Jacqueline W. Pearce, Annalisa Nguyen, Grace Robinson Kick, Stefanie Lim, Leilani J. Castaner, Rebecca E.H. Whiting

Publikováno v: Exp Eye Res

CLN2 neuronal ceroid lipofuscinosis is a hereditary neurodegenerative disorder characterized by progressive vision loss, neurological decline, and seizures. CLN2 disease results from mutations in TPP1 that encodes the lysosomal enzyme tripeptidyl pep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f993cf47b7dc132a777799fb9a5ae6ab
https://europepmc.org/articles/PMC7484259/

Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis

Autor: Elizabeth J. Meiman, Martin L. Katz, Juri Ota-Kuroki, Grace Robinson Kick, Leilani J. Castaner, Julianna C. Sabol, Cheryl A. Jensen, Rebecca E.H. Whiting

Publikováno v: Exp Eye Res

CLN5 neuronal ceroid lipofuscinosis is a hereditary neurodegenerative disease characterized by progressive neurological decline, vision loss and seizures. Visual impairment in children with CLN5 disease is attributed to a progressive decline in retin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf4e369b736551b1e084cfd6d53d425
https://doi.org/10.1016/j.exer.2021.108686

Correction: Corrigendum: Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes)

Autor: Ann P. Bosiack, Erica K. Creighton, William K. Suedmeyer, Annie Oh, Michael Selig, Barbara Gandolfi, Leslie A. Lyons, Rebecca E.H. Whiting, Jacqueline W. Pearce, Leilani J. Castaner, Ellen B. Belknap

Publikováno v: Scientific Reports. 8

Scientific Reports 7: Article number: 43918; published online: 21 March 2017; updated: 18 May 2018 The Acknowledgements section in this Article is incomplete. “Funding was provided by The University of Missouri, College of Veterinary Medicine Clini

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c04d36c0b8255ad3dcd7c8ce2ac0622
https://doi.org/10.1038/srep46978

Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes)

Autor: Jacqueline W. Pearce, Christopher B. Kaelin, Tosso Leeb, Holly C. Beale, Hannes Lohi, Leilani J. Castaner, Rebecca E.H. Whiting, William K. Suedmeyer, Wesley C. Warren, Adam R. Boyko, Niels C Pedersen, Marta Castelhano, Dorian J. Garrick, N. Matthew Ellinwood, Annie Oh, William F. Swanson, Michael J. Montague, Michael Selig, Max F. Rothschild, Erica K. Creighton, Patricia P. Chan, Karen A. Terio, Paulo C. Alves, Leslie A. Lyons, John S. Munday, Rory J. Todhunter, Richard Malik, Gregory S. Barsh, Maria Longeri, William J. Murphy, Christopher R Helps, Danielle Aderdein, Ann P. Bosiack, Barbara Gandolfi, Ellen B. Belknap

Publikováno v: Scientific Reports
Oh, A, Pearce, J W, Gandolfi, B, Creighton, E K, Suedmeyer, W K, Selig, M, Bosiack, A P, Castaner, L J, Whiting, R E H, Belknap, E B, Lyons, L A, Aderdein, D, Alves, P C, Barsh, G S, Beale, H C, Boyko, A R, Castelhano, M G, Chan, P, Ellinwood, N M, Garrick, D J, Helps, C R, Kaelin, C B, Leeb, T, Lohi, H, Longeri, M, Malik, R, Montague, M J, Munday, J S, Murphy, W J, Pedersen, N C, Rothschild, M F, Swanson, W F, Terio, K A, Todhunter, R J & Warren, W C 2017, ' Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) ', Scientific Reports, vol. 7, 43918 . https://doi.org/10.1038/srep43918
Scientific reports, vol 7, iss 1
Oh, Annie; Pearce, Jacqueline W; Gandolfi, Barbara; Creighton, Erica K; Suedmeyer, William K; Selig, Michael; Bosiack, Ann P; Castaner, Leilani J; Whiting, Rebecca E H; Belknap, Ellen B; Lyons, Leslie A; 99 Lives, Consortium (2017). Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes). Scientific Reports, 7(43918), p. 43918. Nature Publishing Group 10.1038/srep43918

African black-footed cats (Felis nigripes) are endangered wild felids. One male and full-sibling female African black-footed cat developed vision deficits and mydriasis as early as 3 months of age. The diagnosis of early-onset progressive retinal atr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a37adf2338f6b83bf83472f701d89c0
https://doi.org/10.1038/srep43918

Ring Transformation of Cyclopropenes to Benzo‐Fused Five‐Membered Oxa‐ and Aza‐Heterocycles via a Formal [4+1] Cyclization.

Autor: Gu, Fengyan^1,2 (AUTHOR), Lin, Binyan¹ (AUTHOR), Peng, Zhi‐Huan³ (AUTHOR), Liu, Shijie^1,2 (AUTHOR), Wu, Yuanqing^1,2 (AUTHOR), Luo, Mei¹ (AUTHOR), Ding, Ning¹ (AUTHOR), Zhan, Qichen^1,2 (AUTHOR), Cao, Peng^2,4,5,6 (AUTHOR) cao_peng@njucm.edu.cn, Zhou, Zhi³ (AUTHOR) zhouzhi@gzhmu.edu.cn, Cao, Tao^1,2 (AUTHOR) caot@njucm.edu.cn

Publikováno v: Advanced Science. 10/28/2024, Vol. 11 Issue 40, p1-12. 12p.