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

CRISPR/Cas therapeutic strategies for autosomal dominant disorders by Caruso, Salvatore Marco, Quinn, Peter Mj, da Costa, Bruna Lopes, Tsang, Stephen H

“…Autosomal dominant disorders present unique challenges, as therapeutics must often distinguish between healthy and diseased alleles while maintaining high…”
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Precision metabolome reprogramming for imprecision therapeutics in retinitis pigmentosa by Caruso, Salvatore Marco, Ryu, Joseph, Quinn, Peter Mj, Tsang, Stephen H

“…Retinitis pigmentosa (RP), the most common form of rod-cone dystrophy, is caused by greater than 3100 mutations in more than 71 genes, many of which are…”
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Characterization and AAV-mediated CRB gene augmentation in human-derived CRB1KO and CRB1KOCRB2+/− retinal organoids by Boon, Nanda, Lu, Xuefei, Andriessen, Charlotte A., Orlovà, Michaela, Quinn, Peter M.J., Boon, Camiel J.F., Wijnholds, Jan

“…The majority of patients with mutations in CRB1 develop either early-onset retinitis pigmentosa as young children or Leber congenital amaurosis as newborns…”
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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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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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CRISPR genome surgery in a novel humanized model for autosomal dominant retinitis pigmentosa by Wu, Wen-Hsuan, Tsai, Yi-Ting, Huang, I-Wen, Cheng, Chia-Hua, Hsu, Chun-Wei, Cui, Xuan, Ryu, Joseph, Quinn, Peter M.J., Caruso, Salvatore Marco, Lin, Chyuang-Sheng, Tsang, Stephen H.

“…Mutations in rhodopsin (RHO) are the most common causes of autosomal dominant retinitis pigmentosa (adRP), accounting for 20% to 30% of all cases worldwide…”
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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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Generation of Human iPSC-Derived Retinal Organoids for Assessment of AAV-Mediated Gene Delivery by Tso, Amy, da Costa, Bruna Lopes, Fehnel, Alexandra, Levi, Sarah R, Jenny, Laura A, Ragi, Sara D, Li, Yao, Quinn, Peter M J

“…Human retinal organoids derived from induced pluripotent stem cells (iPSCs) serve as a promising preclinical model for testing the safety and efficacy of viral…”
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Impaired cholesterol efflux in retinal pigment epithelium of individuals with juvenile macular degeneration by Tsai, Yi-Ting, Li, Yao, Ryu, Joseph, Su, Pei-Yin, Cheng, Chia-Hua, Wu, Wen-Hsuan, Li, Yong-Shi, Quinn, Peter M.J., Leong, Kam W., Tsang, Stephen H.

“…Macular degeneration (MD) is characterized by the progressive deterioration of the macula and represents one of the most prevalent causes of blindness…”
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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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Culture of Human Retinal Explants for Ex Vivo Assessment of AAV Gene Delivery by Wu, Wen-Hsuan, Tso, Amy, Breazzano, Mark P, Jenny, Laura A, Levi, Sarah R, Tsang, Stephen H, Quinn, Peter M J

“…Due to the clinically established safety and efficacy profile of recombinant adeno-associated viral (rAAV) vectors, they are considered the "go to" vector for…”
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Prime Editing for the Installation and Correction of Mutations Causing Inherited Retinal Disease: A Brief Methodology by Tsai, Yi-Ting, da Costa, Bruna Lopes, Nolan, Nicholas D, Caruso, Salvatore Marco, Jenny, Laura A, Levi, Sarah R, Tsang, Stephen H, Quinn, Peter M J

“…Inherited retinal diseases (IRDs) encompass a large heterogeneous group of rare blinding disorders whose etiology originates from mutations in the 280 genes…”
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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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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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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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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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Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina by Stehle, Isabel F, Imventarza, Joel A, Woerz, Franziska, Hoffmann, Felix, Boldt, Karsten, Beyer, Tina, Quinn, Peter Mj, Ueffing, Marius

“…( ) is one of the key genes linked to retinitis pigmentosa and Leber congenital amaurosis, which are characterized by a high clinical heterogeneity. The Crumbs…”
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