Search Results - "Quinn, Peter M. J."

PINK1/PARKIN signalling in neurodegeneration and neuroinflammation by Quinn, Peter M J, Moreira, Paula I, Ambrósio, António Francisco, Alves, C Henrique

“…Mutations in the PTEN-induced kinase 1 (PINK1) and Parkin RBR E3 ubiquitin-protein ligase (PARKIN) genes are associated with familial forms of Parkinson's…”
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The Role of Small Molecules and Their Effect on the Molecular Mechanisms of Early Retinal Organoid Development by Wagstaff, Ellie L, Heredero Berzal, Andrea, Boon, Camiel J F, Quinn, Peter M J, Ten Asbroek, Anneloor L M A, Bergen, Arthur A

“…Early embryonic retinal development is a well-documented and evolutionary conserved process. The specification towards eye development is temporally controlled…”
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Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy by Costa, Bruna Lopes da, Quinn, Peter M J, Wu, Wen-Hsuan, Liu, Siyuan, Nolan, Nicholas D, Demirkol, Aykut, Tsai, Yi-Ting, Caruso, Salvatore Marco, Cabral, Thiago, Wang, Nan-Kai, Tsang, Stephen H

“…Retinitis pigmentosa (RP) is a genetically heterogeneous group of degenerative disorders causing progressive vision loss due to photoreceptor death. RP affects…”
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Oxidative Stress, Neuroinflammation and Neurodegeneration: The Chicken, the Egg and the Dinosaur by Quinn, Peter M J, Ambrósio, António Francisco, Alves, Celso Henrique

“…Neurodegenerative diseases are characterized by the progressive degeneration of the neuronal cells and their networks, hampering the function of the central or…”
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TRAP1 Is Expressed in Human Retinal Pigment Epithelial Cells and Is Required to Maintain their Energetic Status by Ramos Rego, Inês, Silvério, Daniela, Eufrásio, Maria Isabel, Pinhanços, Sandra Sofia, Lopes da Costa, Bruna, Teixeira, José, Fernandes, Hugo, Kong, Yang, Li, Yao, Tsang, Stephen H, Oliveira, Paulo J, Fernandes, Rosa, Quinn, Peter M J, Santos, Paulo Fernando, Ambrósio, António Francisco, Alves, Celso Henrique

“…Age-related macular degeneration (AMD) is the leading cause of severe vision loss and blindness in elderly people worldwide. The damage to the retinal pigment…”
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Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing by da Costa, Bruna Lopes, Jenny, Laura A, Maumenee, Irene H, Tsang, Stephen H, Quinn, Peter M J

“…The mouse and human retina contain three major Crumbs homologue-1 (CRB1) isoforms. CRB1-A and CRB1-B have cell-type-specific expression patterns making the…”
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A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility by Sylla, Mohamed M., Kolesinkova, Masha, da Costa, Bruna Lopes, Maumenee, Irene H., Tsang, Stephen H., Quinn, Peter M. J.

“…Introduction Leber Congenital Amaurosis (LCA) is an inherited retinal disease that presents in infancy with severely decreased vision, nystagmus, and…”
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Generation of an Avian Myeloblastosis Virus (AMV) Reverse Transcriptase Prime Editor by Tsai, Yi-Ting, da Costa, Bruna Lopes, Caruso, Salvatore Marco, Nolan, Nicolas D, Levi, Sarah R, Tsang, Stephen H, Quinn, Peter M J

“…Prime editing (PE) is a novel, double-strand break (DSB)-independent gene editing technology that represents an exciting avenue for the treatment of inherited…”
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Retinogenesis of the Human Fetal Retina: An Apical Polarity Perspective by Quinn, Peter M J, Wijnholds, Jan

“…The Crumbs complex has prominent roles in the control of apical cell polarity, in the coupling of cell density sensing to downstream cell signaling pathways,…”
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Role of Oxidative Stress in Ocular Diseases Associated with Retinal Ganglion Cells Degeneration by Kang, Eugene Yu-Chuan, Liu, Pei-Kang, Wen, Yao-Tseng, Quinn, Peter M J, Levi, Sarah R, Wang, Nan-Kai, Tsai, Rong-Kung

“…Ocular diseases associated with retinal ganglion cell (RGC) degeneration is the most common neurodegenerative disorder that causes irreversible blindness…”
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HIF2α activation and mitochondrial deficit due to iron chelation cause retinal atrophy by Kong, Yang, Liu, Pei‐Kang, Li, Yao, Nolan, Nicholas D, Quinn, Peter M J, Hsu, Chun‐Wei, Jenny, Laura A, Zhao, Jin, Cui, Xuan, Chang, Ya‐Ju, Wert, Katherine J, Sparrow, Janet R, Wang, Nan‐Kai, Tsang, Stephen H

“…Iron accumulation causes cell death and disrupts tissue functions, which necessitates chelation therapy to reduce iron overload. However, clinical utilization…”
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Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb1 by Boon, Nanda, Alves, C Henrique, Mulder, Aat A, Andriessen, Charlotte A, Buck, Thilo M, Quinn, Peter M J, Vos, Rogier M, Koster, Abraham J, Jost, Carolina R, Wijnholds, Jan

“…Mutations in the Crumbs homologue 1 ( ) gene cause inherited retinal dystrophies, such as early-onset retinitis pigmentosa and Leber congenital amaurosis. A…”
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Prime Editing Strategy to Install the PRPH2 c.828+1G>A Mutation by Caruso, Salvatore Marco, Tsai, Yi-Ting, da Costa, Bruna Lopes, Kolesnikova, Masha, Jenny, Laura A, Tsang, Stephen H, Quinn, Peter M J

“…Mutations in peripherin 2 (PRPH2) are associated with a spectrum of inherited retinal diseases (IRDs) including retinitis pigmentosa (RP) and macular…”
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Generation of CRB1 RP Patient-Derived iPSCs and a CRISPR/Cas9-Mediated Homology-Directed Repair Strategy for the CRB1 c.2480G>T Mutation by da Costa, Bruna Lopes, Li, Yao, Levi, Sarah R, Tsang, Stephen H, Quinn, Peter M J

“…Mutations in the Crumbs-homologue-1 (CRB1) gene lead to a spectrum of severe inherited retinal diseases, including retinitis pigmentosa (RP). The establishment…”
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Prime Editing for Inherited Retinal Diseases by da Costa, Bruna Lopes, Levi, Sarah R, Eulau, Eric, Tsai, Yi-Ting, Quinn, Peter M J

“…Inherited retinal diseases (IRDs) are chronic, hereditary disorders that lead to progressive degeneration of the retina. Disease etiology originates from a…”
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Mouse Models of Achromatopsia in Addressing Temporal "Point of No Return" in Gene-Therapy by Wang, Nan-Kai, Liu, Pei-Kang, Kong, Yang, Levi, Sarah R, Huang, Wan-Chun, Hsu, Chun-Wei, Wang, Hung-Hsi, Chen, Nelson, Tseng, Yun-Ju, Quinn, Peter M J, Tai, Ming-Hong, Lin, Chyuan-Sheng, Tsang, Stephen H

“…Achromatopsia is characterized by amblyopia, photophobia, nystagmus, and color blindness. Previous animal models of achromatopsia have shown promising results…”
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Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations by Lopes da Costa, Bruna, Kolesnikova, Masha, Levi, Sarah R, Cabral, Thiago, Tsang, Stephen H, Maumenee, Irene H, Quinn, Peter M J

“…Mutations in the ( ) gene lead to severe inherited retinal dystrophies (IRDs), accounting for nearly 80,000 cases worldwide. To date, there is no therapeutic…”
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Phase transition specified by a binary code patterns the vertebrate eye cup by Balasubramanian, Revathi, Min, Xuanyu, Quinn, Peter M J, Giudice, Quentin Lo, Tao, Chenqi, Polanco, Karina, Makrides, Neoklis, Peregrin, John, Bouaziz, Michael, Mao, Yingyu, Wang, Qian, da Costa, Bruna L, Buenaventura, Diego, Wang, Fen, Ma, Liang, Tsang, Stephen H, Fabre, Pierre J, Zhang, Xin

“…The developing vertebrate eye cup is partitioned into the neural retina (NR), the retinal pigmented epithelium (RPE), and the ciliary margin (CM). By…”
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Organoids and organ chips in ophthalmology by Manafi, Navid, Shokri, Fereshteh, Achberger, Kevin, Hirayama, Masatoshi, Mohammadi, Melika Haji, Noorizadeh, Farsad, Hong, Jiaxu, Liebau, Stefan, Tsuji, Takashi, Quinn, Peter M.J., Mashaghi, Alireza

“…Recent advances have driven the development of stem cell-derived, self-organizing, three-dimensional miniature organs, termed organoids, which mimic different…”
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Overcoming translational barriers in modeling macular degenerations by Nolan, Nicholas David, Quinn, Peter M.J., Tsang, Stephen H.

“…Advances in tissue mimetics are paving the way for interrogating both the pathobiology of human disease and innovative therapeutic paradigms. In this issue of…”
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