Journal ArticleDOI
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives
Marina França Dias,Kwangsic Joo,Jessica A. Kemp,Sílvia Ligório Fialho,Armando da Silva Cunha,Se Joon Woo,Se Joon Woo,Young Jik Kwon +7 more
Reads0
Chats0
TLDR
Development in gene editing technology and novel gene delivery carriers make gene therapy a promising therapeutic modality for RP and other hereditary retinal dystrophies in the future.About:
This article is published in Progress in Retinal and Eye Research.The article was published on 2017-10-01. It has received 273 citations till now. The article focuses on the topics: Retinitis pigmentosa & Retinal Dystrophies.read more
Citations
More filters
Therapeutic genome editing: prospects and challenges
TL;DR: Current progress toward developing programmable nuclease–based therapies as well as future prospects and challenges are discussed.
Journal ArticleDOI
The approved gene therapy drugs worldwide: from 1998 to 2019
TL;DR: This review summarizes the gene therapy drugs approved worldwide from 1998 to 2019 in details, including names, indications, dates of approval, companies, vectors, the applied technologies and mechanisms of gene Therapy drugs, etc.
Journal ArticleDOI
Folding and Misfolding of Human Membrane Proteins in Health and Disease: From Single Molecules to Cellular Proteostasis
Justin T. Marinko,Hui Huang,Wesley D. Penn,John A. Capra,Jonathan P. Schlebach,Charles R. Sanders +5 more
TL;DR: This review comprehensively outline current perspectives on the folding and misfolding of integral MPs as well as the mechanisms of cellular MP quality control and highlights new opportunities for innovations that bridge the molecular understanding of the energetics of MP folding with the nuanced complexity of biological systems.
Journal ArticleDOI
Development and Clinical Translation of Approved Gene Therapy Products for Genetic Disorders.
Alireza Shahryari,Marie Saghaeian Jazi,Saeed Mohammadi,Hadi Razavi Nikoo,Zahra Nazari,Elaheh Sadat Hosseini,Ingo Burtscher,Seyed Javad Mowla,Heiko Lickert +8 more
TL;DR: The history and development of twenty approved human gene and cell-based gene therapy products that have been approved up-to-now are reviewed in clinic and markets of mainly North America, Europe and Asia.
Journal ArticleDOI
Managing Bardet-Biedl Syndrome-Now and in the Future.
TL;DR: Novel interventions are developing at a rapid pace and are explored in this review including genetic therapeutics such as gene therapy, exon skipping therapy, nonsense suppression therapy, and gene editing and other non-genetic therapies such as Gene repurposing, targeted therapies, and non-pharmacological interventions are also discussed.
References
More filters
Journal ArticleDOI
A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity.
Martin Jinek,Krzysztof Chylinski,Krzysztof Chylinski,Ines Fonfara,Michael H. Hauer,Jennifer A. Doudna,Emmanuelle Charpentier +6 more
TL;DR: This study reveals a family of endonucleases that use dual-RNAs for site-specific DNA cleavage and highlights the potential to exploit the system for RNA-programmable genome editing.
Journal ArticleDOI
Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
Albert M. Maguire,Francesca Simonelli,Eric A. Pierce,Edward N. Pugh,Federico Mingozzi,Jeannette L. Bennicelli,Sandro Banfi,Kathleen A. Marshall,Francesco Testa,Enrico Maria Surace,Settimio Rossi,Arkady Lyubarsky,Valder R. Arruda,Barbara A. Konkle,Edwin M. Stone,Edwin M. Stone,Junwei Sun,Jonathan B. Jacobs,L. F. Dell'Osso,Richard W. Hertle,Jian Xing Ma,T. Michael Redmond,Xiaosong Zhu,Bernd Hauck,Olga Zelenaia,Kenneth S. Shindler,Maureen G. Maguire,J. Fraser Wright,Nicholas J. Volpe,Jennifer Wellman McDonnell,Alberto Auricchio,Katherine A. High,Katherine A. High,Jean Bennett +33 more
TL;DR: This study investigated the safety of subretinal delivery of a recombinant adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA) and found three patients with LCA2 had an acceptable local and systemic adverse-event profile after delivery of AAV2.hRPE65v2.
Journal ArticleDOI
Effect of gene therapy on visual function in Leber's congenital amaurosis.
James W B Bainbridge,Alexander J. Smith,Susie S Barker,Scott J Robbie,Robert H. Henderson,Kamaljit S. Balaggan,Ananth C. Viswanathan,Graham E. Holder,Andrew Stockman,Nick Tyler,Simon M. Petersen-Jones,Shomi S. Bhattacharya,Adrian J. Thrasher,Fred W. Fitzke,Barrie J Carter,Gary S. Rubin,Anthony T. Moore,Robin R. Ali +17 more
TL;DR: Three young adult patients with early-onset, severe retinal dystrophy were administered subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA) under the control of a human R PE65 promoter.
Journal ArticleDOI
Spliceosome structure and function.
Cindy L. Will,Reinhard Lührmann +1 more
TL;DR: The extensive interplay of RNA and proteins in aligning the pre-mRNA's reactive groups, and the presence of both RNA and protein at the core of the splicing machinery, suggest that the spliceosome is an RNP enzyme, but elucidation of the precise nature of its active site awaits the generation of a high-resolution structure of its RNP core.
Journal ArticleDOI
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Stephen R. Russell,Jean Bennett,Jennifer Wellman,Daniel C. Chung,Zi Fan Yu,Amy Tillman,Janet Wittes,Julie Pappas,Okan U. Elci,Sarah McCague,Dominique Cross,Kathleen A. Marshall,Jean Walshire,Taylor Kehoe,Hannah Reichert,Maria C. Davis,Leslie Raffini,Lindsey A. George,F. Parker Hudson,Laura E. Dingfield,Xiaosong Zhu,Julia A. Haller,Elliott H. Sohn,Vinit B. Mahajan,Wanda Pfeifer,Michelle T. Weckmann,Chris A. Johnson,Dina Y. Gewaily,Arlene V. Drack,Edwin M. Stone,Katie Wachtel,Francesca Simonelli,Bart P. Leroy,Bart P. Leroy,J. Fraser Wright,Katherine A. High,Albert M. Maguire +36 more
TL;DR: Voretigene neparvovec gene replacement improved functional vision in RPE65-mediated inherited retinal dystrophy previously medically untreatable.
Related Papers (5)
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Stephen R. Russell,Jean Bennett,Jennifer Wellman,Daniel C. Chung,Zi Fan Yu,Amy Tillman,Janet Wittes,Julie Pappas,Okan U. Elci,Sarah McCague,Dominique Cross,Kathleen A. Marshall,Jean Walshire,Taylor Kehoe,Hannah Reichert,Maria C. Davis,Leslie Raffini,Lindsey A. George,F. Parker Hudson,Laura E. Dingfield,Xiaosong Zhu,Julia A. Haller,Elliott H. Sohn,Vinit B. Mahajan,Wanda Pfeifer,Michelle T. Weckmann,Chris A. Johnson,Dina Y. Gewaily,Arlene V. Drack,Edwin M. Stone,Katie Wachtel,Francesca Simonelli,Bart P. Leroy,Bart P. Leroy,J. Fraser Wright,Katherine A. High,Albert M. Maguire +36 more