Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy

Autor: Paul F Kenna, Marian M Humphries, Anna-Sophia Kiang, Philippe Brabet, Laurent Guillou, Ema Ozaki, Matthew Campbell, G Jane Farrar, Robert Koenekoop, Pete Humphries

Publikováno v: BMJ Open Ophthalmology, Vol 5, Iss 1 (2020)

Objectives No therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates with late-onset adRP, reduced RPE65 enzymatic activity being one feature associated with this

Externí odkaz: https://doaj.org/article/b2c508a232bf43a1be3e4db852091f21

Abstracts from the 20th International Symposium on Signal Transduction at the Blood-Brain Barriers

Autor: Andrzej Małecki, Janina Skipor-Lahuta, Michal Toborek, N. Joan Abbott, David A. Antonetti, Enming Joe Su, Daniel A. Lawrence, Müge Atış, Uğur Akcan, Canan Uğur Yılmaz, Nurcan Orhan, Poyraz Düzgün, Umut Deniz Ceylan, Nadir Arıcan, Serçin Karahüseyinoğlu, Gizem Nur Şahin, Bülent Ahıshalı, Mehmet Kaya, Sidar Aydin, Armelle Klopstein, Britta Engelhardt, Julia Baumann, Chih-Chieh Tsao, Sheng-Fu Huang, Omolara Ogunshola, Elizaveta B. Boytsova, Andrey V. Morgun, Elena D. Khilazheva, Elena A. Pozhilenkova, Yana V. Gorina, Galina P. Martynova, Alla B. Salmina, David Bueno, Jordi Garcia-Fernàndez, Victor Castro, Marta Skowronska, Matheus Uba Chupel, Luciele Guerra Minuzzi, Edith Filaire, Ana Maria Teixeira, Mariangela Corsi, Romain Versele, Andrea Fuso, Emmanuel Sevin, Cherubino Di Lorenzo, Rita Businaro, Laurence Fenart, Fabien Gosselet, Pietra Candela, Mária A. Deli, Conor Delaney, Eoin O’Keefe, Michael Farrell, Sarah Doyle, Matthew Campbell, Lester R. Drewes, A. Appelt-Menzel, A. Cubukova, M. Metzger, R. Fischer, David M. F. Francisco, Rémy Bruggmann, Alexa Fries, Kinga G. Blecharz, Josephin Wagner, Lars Winkler, Ulf Schneider, Peter Vajkoczy, Mikio Furuse, Lydia Gabbert, Christina Dilling, Dmitri Sisario, Vladimir Soukhoroukov, Malgorzata Burek, S. Guérit, E. Fidan, K. Devraj, C. J. Czupalla, J. Macas, S. Thom, K. H. Plate, H. Gerhardt, S. Liebner, András Harazin, Alexandra Bocsik, Judit Váradi, Ferenc Fenyvesi, Vilmos Tubak, Miklós Vecsernyés, Hans Christian Helms, Helle Sønderby Waagepetersen, Carsten Uhd Nielsen, Birger Brodin, Zsófia Hoyk, Melinda E. Tóth, Nikolett Lénárt, Brigitta Dukay, Ágnes Kittel, Judit Vígh, Szilvia Veszelka, Fruzsina Walter, Ágnes Zvara, László Puskás, Miklós Sántha, Sabrina Engelhardt, Omolara O. Ogunshola, Anna Huber, Alexander Reitner, Samar Osmen, Kathrin Hahn, Neli Bounzina, Anna Gerhartl, Anna Schönegger, Hannes Steinkellner, Franco Laccone, Winfried Neuhaus, Natalie Hudson, Lucia Celkova, Anne Iltzsche, Svetlana Drndarski, David J Begley, Mette Mathiesen Janiurek, Krzysztof Kucharz, Christina Christoffersen, Lars Bo Nielsen, Martin Lauritzen, Rebecca H Johnson, Dan T Kho, Simon J O’Carroll, Catherine E Angel, E. Scott Graham, Jennifer Pereira, Christina Simoglou Karali, Vinton Cheng, Niloufar Zarghami, Manuel Sarmiento Soto, Yvonne Couch, Daniel C. Anthony, Nicola R. Sibson, John Kealy, Richard F. Keep, Lisa J. Routhe, Jianming Xiang, Hong Ye, Ya Hua, Torben Moos, Guohua Xi, M. Kristensen, A. Bach, K. Strømgaard, Nikolay Kutuzov, Melissa A. Lopes-Pinheiro, Jamie Lim, Alwin Kamermans, Jack van Horssen, Wendy W.J. Unger, Ruud Fontijn, Helga E. de Vries, Petra Majerova, Ralph M. Garruto, Luca Marchetti, David Francisco, Isabelle Gruber, Ruth Lyck, Mária Mészáros, Gergő Porkoláb, Lóránd Kiss, Ana-Maria Pilbat, Zsolt Török, Zsolt Bozsó, Lívia Fülöp, Alena Michalicova, Jaroslav Galba, Sandra Mihaljevic, Michal Novak, Andrej Kovac, Yoichi Morofuji, Takashi Fujimoto, Daisuke Watanabe, Shinsuke Nakagawa, Kenta Ujifuku, Nobutaka Horie, Tsuyoshi Izumo, Takeo Anda, Takayuki Matsuo, Fang Niu, Shilpa Buch, Ádám Nyúl-Tóth, Mihály Kozma, Péter Nagyőszi, Krisztina Nagy, Csilla Fazakas, János Haskó, Kinga Molnár, Attila E. Farkas, Péter Galajda, Imola Wilhelm, István A. Krizbai, Eoin Kelly, Eugene Wallace, Chris Greene, Stephanie Hughes, Niamh Doyle, Marian M. Humphries, Gerald A. Grant, Alon Friedman, Ronel Veksler, Michael G. Molloy, James F. Meaney, Niall Pender, Colin P. Doherty, Minseon Park, Arkadiusz Liskiewicz, Marta Przybyla, Daniela Kasprowska-Liśkiewicz, Marta Nowacka-Chmielewska, Andrzej Malecki, Ana Pombero, Raquel Garcia-Lopez, Marta Martinez-Morga, Salvador Martinez, Ofer Prager, Lyna Solomon-Kamintsky, Karl Schoknecht, Guy Bar-Klein, Dan Milikovsky, Udi Vazana, Dror Rosenbach, Richard Kovács, Zsolt Radak, Sabela Rodríguez-Lorenzo, Remy Bruggmann, Gijs Kooij, Helga E de Vries, Semyachkina-Glushkovskaya Oxana, Bragin Denis, Vodovozova Elena, Alekseeva Anna, Salmina Alla, Salmin Vladimir, Morgun Andrey, Malinovskaya Nataliya, Khilazheva Elena, Boytsova Elizaveta, Shirokov Alexander, Navolokin Nikita, Bucharskaya Alla, Yang Yirong, Abdurashitov Arkady, Gekalyuk Artem, Ulanova Mariya, Shushunova Anastasia, Bodrova Madina, Sagatova Artem, Khorovodov Alexander, Shareef Ali Esmat, Pavlov Valery, Tuchin Artem, Kurths Jürgen, Marcelle Silva de Abreu, Ana C. Calpena, Marta Espina, Maria Luisa García, Ignacio A. Romero, David Male, Steffen Storck, Anika Hartz, Jens Pahnke, Claus U. Surma, M. Surma, Z. Giżejewski, H. Zieliński, Aleksandra Szczepkowska, Marta Kowalewska, Agata Krawczynska, Andrzej P. Herman, Janina Skipor, Nicole Kachappilly, Mike Veenstra, Rosiris Leon Rivera, Dionna W. Williams, Susan Morgello, Joan W. Berman, Ursula Wyneken, Luis Federico Batiz, Arzu Temizyürek, Rouhollah Khodadust, Mutlu Küçük, Candan Gürses, Serkan Emik, Magdalena Zielińska, Marta Obara-Michlewska, Krzysztof Milewski, Edyta Skonieczna, Inez Fręśko, Edward A. Neuwelt, Ana Raquel Santa Maria, Ana Rita Bras, Dóra Lipka, Sándor Valkai, András Kincses, András Dér, Maria A. Deli

Publikováno v: Fluids and Barriers of the CNS, Vol 14, Iss S2, Pp 1-23 (2017)

Externí odkaz: https://doaj.org/article/eebaa084b06a4ed5bbbb7e8fae457691

RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models

Autor: Sophia Millington-Ward, Naomi Chadderton, Laura K. Finnegan, Iris J. M. Post, Matthew Carrigan, Rachel Nixon, Marian M. Humphries, Pete Humphries, Paul F. Kenna, Arpad Palfi, G. Jane Farrar

Publikováno v: International Journal of Molecular Sciences
Volume 24
Issue 4
Pages: 3847

Age-related macular degeneration (AMD) is the most common cause of blindness in the aged population. However, to date there is no effective treatment for the dry form of the disease, representing 85–90% of cases. AMD is an immensely complex disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366cae23e0fa92f6d25ab28856e5635c
https://doi.org/10.3390/ijms24043847

Toward an elucidation of the molecular genetics of inherited retinal degenerations

Autor: Anna Sophia Kiang, Sophia Millington-Ward, Marian M. Humphries, G. Jane Farrar, Adrian Dockery, Peter Humphries, Naomi Chadderton, Matthew Carrigan, Arpad Palfi, Paul F. Kenna

Publikováno v: Human Molecular Genetics

While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51257325889dadb419c3bef3fb5ec2e5
https://doi.org/10.1093/hmg/ddx185

Dysregulated claudin-5 cycling in the inner retina causes retinal pigment epithelial cell atrophy

Autor: Ema Ozaki, Sofia Theodoropoulou, Matthew Campbell, Akeem Browne, Federica Storti, Erin Fahey, Chris H. Greene, Shervin Liddie, Alan Hopkins, Mark Cahill, Marian M. Humphries, Eleanor Demmons, Paul F. Kenna, Christian Grimm, Sarah L. Doyle, Anne M. Curtis, Matthew S. Lawrence, Peter Humphries, Lucia Celkova, Natalie Hudson

Publikováno v: Hudson, N, Celkova, L, Hopkins, A, Greene, C, Storti, F, Ozaki, E, Fahey, E, Theodoropoulou, S, Kenna, P F, Humphries, M M, Curtis, A M, Demmons, E, Browne, A, Liddie, S, Lawrence, M S, Grimm, C, Cahill, M T, Humphries, P, Doyle, S L & Campbell, M 2019, ' Dysregulated claudin-5 cycling in the inner retina causes retinal pigment epithelial cell atrophy ', JCI Insight, vol. 4, no. 15, 130273 . https://doi.org/10.1172/jci.insight.130273

Age-related macular degeneration (AMD) is the leading cause of central retinal vision loss worldwide, with an estimated 1 in 10 people over the age of 55 showing early signs of the condition. There are currently no forms of therapy available for the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6e73e0d8f14543916d8e047e70781b
https://europepmc.org/articles/PMC6693834/