Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Beatrice M, Tam"'
Autor:
Seyedeh Zeinab Mirjalili Mohanna, Jack W. Hickmott, Siu Ling Lam, Nina Y. Chiu, Tess C. Lengyell, Beatrice M. Tam, Orson L. Moritz, Elizabeth M. Simpson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 478-490 (2020)
Aniridia is a rare eye disorder, which is caused by mutations in the paired box 6 (PAX6) gene and results in vision loss due to the lack of a long-term vision-saving therapy. One potential approach to treating aniridia is targeted CRISPR-based genome
Externí odkaz:
https://doaj.org/article/72def171bf954da9a10a19c51103507a
Autor:
Joanna M. Feehan, Colette N. Chiu, Paloma Stanar, Beatrice M. Tam, Sheikh N. Ahmed, Orson L. Moritz
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Abstract The utility of Xenopus laevis, a common research subject for developmental biology, retinal physiology, cell biology, and other investigations, has been limited by lack of a robust gene knockout or knock-down technology. Here we describe man
Externí odkaz:
https://doaj.org/article/ab62bec43fb74a4b8129521e5badc389
Publikováno v:
Journal of Translational Genetics and Genomics. 6:111-125
Aim: To examine the utility of gene editing therapies for retinitis pigmentosa using Xenopus laevis carrying a mutation in Rhodopsin. Methods: Xenopus laevis were genetically modified using CRISPR-Cas9 based methods and characterized by Sanger sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6499d47301614bc72c530eb19bb37e5a
https://doi.org/10.20517/jtgg.2021.49
https://doi.org/10.20517/jtgg.2021.49
Autor:
Ruanne Y.J. Vent-Schmidt, Runxia H. Wen, Zusheng Zong, Colette N. Chiu, Beatrice M. Tam, Christopher G. May, Orson L. Moritz
Publikováno v:
The Journal of Neuroscience. 37:1039-1054
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa4353b50e2be8b578eb2170b46680fb
https://doi.org/10.1523/jneurosci.1647-16.2017
https://doi.org/10.1523/jneurosci.1647-16.2017
Autor:
Beatrice M. Tam, Orson L. Moritz, Christopher G. May, Ruanne Y.J. Vent-Schmidt, Colette N Chiu, Runxia H. Wen, Zusheng Zong
Publikováno v:
The Journal of Neuroscience. 37:1039-1054
Retinitis pigmentosa (RP) is an inherited retinal degeneration (RD) that leads to blindness for which no treatment is available. RP is frequently caused by mutations inRhodopsin; in some animal models, RD is exacerbated by light. Valproic acid (VPA)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40287c39cd8a14fb88786f750f985454
https://doi.org/10.1523/jneurosci.1647-16.2016
https://doi.org/10.1523/jneurosci.1647-16.2016
We previously reported autophagic structures in rod photoreceptors expressing a misfolding RHO (rhodopsin) mutant (RHO(P23H)), suggesting that autophagy may play a role in degrading the mutant RHO and/or be involved in photoreceptor cell death. To fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc98af7b935df78051afc56ad78ab998
https://europepmc.org/articles/PMC6844500/
https://europepmc.org/articles/PMC6844500/
Publikováno v:
Journal of Cell Science.
The Arf4-rhodopsin complex (mediated by the VxPx motif in rhodopsin) initiates expansion of vertebrate rod photoreceptor cilia-derived light-sensing organelles through stepwise assembly of a conserved trafficking network. Here, we examine its role in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7c47c1553e7a78c373733b437d4e722
https://doi.org/10.1242/jcs.222034
https://doi.org/10.1242/jcs.222034
Autor:
Paloma Stanar, Colette N Chiu, Joanna M. Feehan, Orson L. Moritz, Sheikh Nisar Ahmed, Beatrice M. Tam
Publikováno v:
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
The utility of Xenopus laevis, a common research subject for developmental biology, retinal physiology, cell biology, and other investigations, has been limited by lack of a robust gene knockout or knock-down technology. Here we describe manipulation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b70f66f41674e0ca517e24a6ae6245fd
http://europepmc.org/articles/PMC5537283
http://europepmc.org/articles/PMC5537283
Publikováno v:
The Journal of Neuroscience. 34:13336-13348
Retinitis pigmentosa (RP) is an inherited neurodegenerative disease involving progressive vision loss, and is often linked to mutations in the rhodopsin gene. Mutations that abolish N-terminal glycosylation of rhodopsin (T4K and T17M) cause sector RP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50d020c35da09de6cacab650825315f
https://doi.org/10.1523/jneurosci.1655-14.2014
https://doi.org/10.1523/jneurosci.1655-14.2014
Publikováno v:
Investigative Opthalmology & Visual Science. 60:933
Purpose The rhodopsin mutation P23H is responsible for a significant portion of autosomal-dominant retinitis pigmentosa, a disorder characterized by rod photoreceptor death. The mechanisms of toxicity remain unclear; previous studies implicate destab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::321f54c7aad78330f2e75bd7a3ad61d0
https://doi.org/10.1167/iovs.18-25347
https://doi.org/10.1167/iovs.18-25347