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Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking

Autor: Mugen Liu, Xiliang Liu, Zhen Qu, Juanjuan Ma, Yuexia Lv, Yayun Qin, Shanglun Xie, Shanshan Han, Fei Liu, Zhaohui Tang, Yuwen Huang, Shanshan Yu, Zhaojing Lu, Jingzhen Li, Tinsae Assefa Yimer, Fulton Wong, Xuebin Hu

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1865:2694-2705

Leber congenital amaurosis (LCA) is the most serious form of inherited retinal dystrophy that leads to blindness or severe visual impairment within a few months after birth. Approximately 1–2% of the reported cases are caused by mutations in the LC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ec04c4669b25ca99da79c5b7da903a9
https://doi.org/10.1016/j.bbadis.2019.07.009

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Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration

Autor: Jingzhen Li, Xuebin Hu, Mugen Liu, James Reilly, Zhaohui Tang, Yuexia Lv, Fulton Wong, Yayun Qin, Fei Liu, Xinhua Shu, Xiliang Liu, Danna Jia, Shanglun Xie, Yuwen Huang, Zhaojing Lu, Pan Gao, Shanshan Yu, Zhen Qu

Publikováno v: J Biol Chem

Mutations in human prominin 1 (PROM1), encoding a transmembrane glycoprotein localized mainly to plasma membrane protrusions, have been reported to cause retinitis pigmentosa, macular degeneration, and cone-rod dystrophy. Although the structural role

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::409a3882b5fd5e14c0edb41286efa656
https://pubmed.ncbi.nlm.nih.gov/31704775

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Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish

Publikováno v: Biochimica et biophysica acta. Molecular basis of disease. 1865(6)

Mutations in the photoreceptor cell-specific nuclear receptor gene Nr2e3 increased the number of S-cone photoreceptors in human and murine retinas and led to retinal degeneration that involved photoreceptor and non-photoreceptor cells. The mechanisms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a325b2837137e0c3ef9884029104e2c7
https://pubmed.ncbi.nlm.nih.gov/30684641

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CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish

Autor: Lincoln Biswas, Yuwen Huang, Mugen Liu, Xuebin Hu, James Reilly, Fulton Wong, Ying Liu, Jingyu Liu, Shanshan Han, Xinhua Shu, Zhaohui Tang, Zhaojing Lu, Xiliang Liu, Tao Jiang, Fei Liu, Lei Wang, Chang Li, Shanshan Yu

Publikováno v: Human molecular genetics. 26(12)

In humans, CERKL mutations cause widespread retinal degeneration: early dysfunction and loss of rod and cone photoreceptors in the outer retina and, progressively, death of cells in the inner retina. Despite intensive efforts, the function of CERKL r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d6e78acc8ee7518288f5551b33cd1cd
https://pubmed.ncbi.nlm.nih.gov/28398482

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CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1842(7):1121-1129

Mutations in the ceramide kinase-like gene (CERKL) are associated with severe retinal degeneration. However, the exact function of the encoded protein (CERKL) remains unknown. Here we show that CERKL interacts with mitochondrial thioredoxin 2 (TRX2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5344d0ec5c072ac1528e9febba9309be

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A Novel Rhodopsin Point Mutation, Proline-170-histidine, Associated with Sectoral Retinitis Pigmentosa

Autor: Fulton Wong, Shaheen P. Shah, Andrea L Vincent, Dianne Sharp

Publikováno v: Ophthalmic Genetics. 35:241-247

Identification and classification of all retinitis pigmentosa (RP) causing mutations contribute to a better understanding of disease variants. In this report we describe a New Zealand family, of European heritage, affected by a sectoral type RP pheno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd01ad7fb6d4edbc9cb94cb873520501
https://doi.org/10.3109/13816810.2014.924014

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TLS interaction with NMDA R1 splice variant in retinal ganglion cell line RGC-5

Autor: Widyawilis Selamat, Fulton Wong, Toru Takumi, Ristuko Fujii, Ildasolha Jamari, Yu Wang

Publikováno v: Neuroscience Letters. 450:163-166

Translocated in liposarcoma (TLS or FUS) is a multifunctional protein component of the heterogenous ribonuclear complex involved in the splicing of pre-mRNA and the export of fully processed mRNA from the nucleus to the cytoplasm. As we determined th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97f6f536149712f2aea45bb022126577
https://doi.org/10.1016/j.neulet.2008.12.014

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EFFECTS OF INDOCYANINE GREEN ON THE RETINA AND RETINAL PIGMENT EPITHELIUM IN A PORCINE MODEL OF RETINAL HOLE

Autor: Sandra S. Stinnett, McCuen Bw nd, Fulton Wong, M.P. Czajka, Hoang Nguyen, Thomas J. Cummings

Publikováno v: Retina. 24:275-282

Purpose This study was designed to emulate human macular hole surgery and to test the effects of indocyanine green (ICG) on the retina and retinal pigment epithelium (RPE). Methods Yorkshire Cross pigs (n = 23) underwent vitrectomy, separation of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7b4fe8e9256429efa3df037d40f58a9
https://doi.org/10.1097/00006982-200404000-00014

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