Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Pietro Farinelli"'
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
André Brás Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, Sebastian Patzke, Pernille Martens, Signe Krogh Ohlsen, Mathieu Quinodoz, Konstantinos Nikopoulos, Reem Suleiman, Magnus Per Damsø Jeppesen, Catja Weiss, Søren Tvorup Christensen, Carlo Rivolta, Jens S Andersen, Pietro Farinelli, Lotte Bang Pedersen
Publikováno v:
eLife, Vol 10 (2021)
CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the CEP78 gene cause retinal cone-rod dystrophy associated with hearing loss. However, the mechanism by which CEP78 affects cilia formation is unkn
Externí odkaz:
https://doaj.org/article/4d5f5e4294184f34b50a9cda61e1c689
Autor:
Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P. M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-7 (2019)
Genetic variants in RP1 can cause hereditary retinal degeneration (HRD). Here, in a genomic screen of 331 Japanese HRD patients, the authors identify a near-polymorphic RP1 variant that causes Mendelian HRD in trans with an Alu insertion and otherwis
Externí odkaz:
https://doaj.org/article/537687cf25cf49f1921e6233fca5ffb9
Autor:
Blanca Arango-Gonzalez, Dragana Trifunović, Ayse Sahaboglu, Katharina Kranz, Stylianos Michalakis, Pietro Farinelli, Susanne Koch, Fred Koch, Sandra Cottet, Ulrike Janssen-Bienhold, Karin Dedek, Martin Biel, Eberhart Zrenner, Thomas Euler, Per Ekström, Marius Ueffing, François Paquet-Durand
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e112142 (2014)
Cell death in neurodegenerative diseases is often thought to be governed by apoptosis; however, an increasing body of evidence suggests the involvement of alternative cell death mechanisms in neuronal degeneration. We studied retinal neurodegeneratio
Externí odkaz:
https://doaj.org/article/742d44d3462e4a388eecbace15ecc4e1
Autor:
Jasvir Kaur, Stine Mencl, Ayse Sahaboglu, Pietro Farinelli, Theo van Veen, Eberhart Zrenner, Per Ekström, François Paquet-Durand, Blanca Arango-Gonzalez
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e22181 (2011)
Retinitis pigmentosa (RP) is a heterogeneous group of inherited neurodegenerative diseases affecting photoreceptors and causing blindness. Many human cases are caused by mutations in the rhodopsin gene. An important question regarding RP pathology is
Externí odkaz:
https://doaj.org/article/6a7fafc52c05425c83e1cab711c66b13
Autor:
Alexander Ludwig, Christina Birgitte R. Rasmussen, Nicoline Fürstenberg, Maarten Altelaar, Anna Akhmanova, Stine K. Morthorst, Zeinab Anvarian, Søren T. Christensen, Camilla Nielsen, Ilya Grigoriev, Pietro Farinelli, Lotte B. Pedersen, Andrea Serra-Marques
The kinesin-3 motor KIF13B functions in endocytosis, vesicle transport, and regulation of ciliary length and signaling. Direct binding of the membrane-associated guanylate kinase (MAGUK) DLG1 to KIF13B’s MAGUK-binding stalk (MBS) domain relieves mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f461c2ca6c3c9adf21f3ed93aa9b20a
https://doi.org/10.1101/2021.10.14.464392
https://doi.org/10.1101/2021.10.14.464392
Autor:
Jens S. Andersen, Mathieu Quinodoz, Reem Suleiman, Pernille Martens, Konstantinos Nikopoulos, André Brás Gonçalves, Pietro Farinelli, Carlo Rivolta, Catja Weiss, Sebastian Patzke, Beinta Biskopstø Joensen, Lotte B. Pedersen, Magnus Per Damsø Jeppesen, Sarah Kirstine Hasselbalch, Søren T. Christensen, Signe Krogh Ohlsen
Publikováno v:
Gonçalves, A B, Hasselbalch, S K, Joensen, B B, Patzke, S, Martens, P, Ohlsen, S K, Quinodoz, M, Nikopoulos, K, Suleiman, R, Jeppesen, M P D, Weiss, C, Christensen, S T, Rivolta, C, Andersen, J S, Farinelli, P & Pedersen, L B 2021, ' CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels ', eLife, vol. 10, e63731 . https://doi.org/10.7554/eLife.63731
eLife
eLife, Vol 10 (2021)
Gonçalves, A B, Hasselbalch, S K, Joensen, B B, Patzke, S, Martens, P, Ohlsen, S K, Quinodoz, M, Nikopoulos, K, Suleiman, R, Jeppesen, M P D, Weiss, C, Christensen, S T, Rivolta, C, Andersen, J S, Farinelli, P & Pedersen, L B 2021, ' CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels ', eLife, vol. 10, e63731 . https://doi.org/10.7554/elife.63731
eLife
eLife, Vol 10 (2021)
Gonçalves, A B, Hasselbalch, S K, Joensen, B B, Patzke, S, Martens, P, Ohlsen, S K, Quinodoz, M, Nikopoulos, K, Suleiman, R, Jeppesen, M P D, Weiss, C, Christensen, S T, Rivolta, C, Andersen, J S, Farinelli, P & Pedersen, L B 2021, ' CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels ', eLife, vol. 10, e63731 . https://doi.org/10.7554/elife.63731
CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the CEP78 gene cause retinal cone-rod dystrophy associated with hearing loss. However, the mechanism by which CEP78 affects cilia formation is unkn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3a7d2563e61fcb57025b1d22c78b416
https://findresearcher.sdu.dk:8443/ws/files/185246823/elife_63731_v2.pdf
https://findresearcher.sdu.dk:8443/ws/files/185246823/elife_63731_v2.pdf
Autor:
André Brás Gonçalves, Jens S. Andersen, Catja Weiss, Mathieu Quinodoz, Carlo Rivolta, Konstantinos Nikopoulos, Søren T. Christensen, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, Magnus Per Damsø Jeppesen, Signe Krogh Ohlsen, Reem Suleiman, Pernille Martens, Sebastian Patzke, Pietro Farinelli, Lotte B. Pedersen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2944669af0732f969163d55a9067765f
https://doi.org/10.7554/elife.63731.sa2
https://doi.org/10.7554/elife.63731.sa2
Autor:
Konstantinos Nikopoulos, Andrea Superti-Furga, Pietro Farinelli, Carlo Rivolta, Sten Andréasson, Virginie G. Peter, Mathieu Quinodoz, Lotta Gränse
Publikováno v:
Ophthalmic Genetics. 40:177-181
Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity.Complete ophthalmic examination and next-generation sequencing.We describe a patient with no
Autor:
Konstantinos Nikopoulos, Beinta Biskopstø Joensen, Mathieu Quinodoz, Signe Krogh Ohlsen, Magnus Per Damsø Jeppesen, Catja Weiss, André Brás Gonçalves, Jens S. Andersen, Sarah Kirstine Hasselbalch, Lotte B. Pedersen, Reem Suleiman, Pietro Farinelli, Pernille Martens, Carlo Rivolta, Søren T. Christensen, Sebastian Patzke
CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the CEP78 gene cause retinal cone-rod dystrophy associated with hearing loss. However, the mechanism by which CEP78 affects cilia formation is unkn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb29c4dbd11aaeeea3bd03915a3571b1
https://doi.org/10.1101/2020.10.05.325936
https://doi.org/10.1101/2020.10.05.325936