Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Stephan Storch"'
Autor:
Irene Lopez-Fabuel, Marina Garcia-Macia, Costantina Buondelmonte, Olga Burmistrova, Nicolo Bonora, Paula Alonso-Batan, Brenda Morant-Ferrando, Carlos Vicente-Gutierrez, Daniel Jimenez-Blasco, Ruben Quintana-Cabrera, Emilio Fernandez, Jordi Llop, Pedro Ramos-Cabrer, Aseel Sharaireh, Marta Guevara-Ferrer, Lorna Fitzpatrick, Christopher D. Thompton, Tristan R. McKay, Stephan Storch, Diego L. Medina, Sara E. Mole, Peter O. Fedichev, Angeles Almeida, Juan P. Bolaños
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage disease typically with childhood onset of neurodegenerative symptoms. Here the authors report that in a mouse model of CLN7 disease neuronal reactive oxygen species and the activit
Externí odkaz:
https://doaj.org/article/3a651b3190b84e729467d309cc661713
Autor:
Elena-Sofia Heinl, Sebastian Lorenz, Barbara Schmidt, Nouf Nasser M Laqtom, Joseph R. Mazzulli, Laetitia Francelle, Timothy W. Yu, Benjamin Greenberg, Stephan Storch, Ines Tegtmeier, Helga Othmen, Katja Maurer, Malin Steinfurth, Ralph Witzgall, Vladimir Milenkovic, Christian H. Wetzel, Markus Reichold
Publikováno v:
iScience, Vol 25, Iss 10, Pp 105082- (2022)
Summary: The SARS-CoV-2 virus has triggered a worldwide pandemic. According to the BioGrid database, CLN7 (MFSD8) is thought to interact with several viral proteins. The aim of this work was to investigate a possible involvement of CLN7 in the infect
Externí odkaz:
https://doaj.org/article/edaf365365c74efab193fd8d1643bbfe
Autor:
Udo Bartsch, Stephan Storch
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
The neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative lysosomal storage disorders mainly affecting the brain and the retina. In the NCLs, disease-causing mutations in 13 different ceroid lipofuscinoses genes (CLN)
Externí odkaz:
https://doaj.org/article/7f47ace616284d3186e4f0675ee52c77
Autor:
Chiara Soldati, Irene Lopez‐Fabuel, Luca G Wanderlingh, Marina Garcia‐Macia, Jlenia Monfregola, Alessandra Esposito, Gennaro Napolitano, Marta Guevara‐Ferrer, Anna Scotto Rosato, Einar K Krogsaeter, Dominik Paquet, Christian M Grimm, Sandro Montefusco, Thomas Braulke, Stephan Storch, Sara E Mole, Maria A De Matteis, Andrea Ballabio, Julio L Sampaio, Tristan McKay, Ludger Johannes, Juan P Bolaños, Diego L Medina
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 10, Pp n/a-n/a (2021)
Abstract Batten diseases (BDs) are a group of lysosomal storage disorders characterized by seizure, visual loss, and cognitive and motor deterioration. We discovered increased levels of globotriaosylceramide (Gb3) in cellular and murine models of CLN
Externí odkaz:
https://doaj.org/article/d6c8d9dd375c49b29d6deee58e6d431f
Autor:
Yevgeniya Atiskova, Susanne Bartsch, Tatyana Danyukova, Elke Becker, Christian Hagel, Stephan Storch, Udo Bartsch
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)
Abstract Neuronal ceroid lipofuscinosis (NCL) type 1 (CLN1) is a neurodegenerative storage disorder caused by mutations in the gene encoding the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1). CLN1 patients suffer from brain atrophy, mental
Externí odkaz:
https://doaj.org/article/5e94031a26164e6db766076287752ecd
Autor:
Jessica Schmiesing, Stephan Storch, Ann-Cathrin Dörfler, Michaela Schweizer, Georgia Makrypidi-Fraune, Melanie Thelen, Marc Sylvester, Volkmar Gieselmann, Catherine Meyer-Schwesinger, Friedrich Koch-Nolte, Henning Tidow, Chris Mühlhausen, Abdul Waheed, William S. Sly, Thomas Braulke
Publikováno v:
Cell Reports, Vol 24, Iss 11, Pp 2946-2956 (2018)
Summary: Lysine glutarylation (Kglu) of mitochondrial proteins is associated with glutaryl-CoA dehydrogenase (GCDH) deficiency, which impairs lysine/tryptophan degradation and causes destruction of striatal neurons during catabolic crisis with subseq
Externí odkaz:
https://doaj.org/article/b3476a6f49174f2f967f25a8a25f0543
Autor:
Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J. Haslett, Michela Palmieri, Stephan Storch, Janos Groh, Niv Dobzinski, Gennaro Napolitano, Carolin Schmidtke, Danielle M. Kerkovich
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our
Externí odkaz:
https://doaj.org/article/ff6be28e0b18473a86341a67a5838308
Autor:
Markus Damme, Laura Brandenstein, Susanne Fehr, Wanda Jankowiak, Udo Bartsch, Michaela Schweizer, Irm Hermans-Borgmeyer, Stephan Storch
Publikováno v:
Neurobiology of Disease, Vol 65, Iss , Pp 12-24 (2014)
Mutations in the major facilitator superfamily domain containing 8 (MFSD8) gene coding for the lysosomal CLN7 membrane protein result in CLN7 disease, a lysosomal storage disease of childhood. CLN7 disease belongs to a group of inherited disorders, c
Externí odkaz:
https://doaj.org/article/8bc7875d795c455f92fa1b0b37b31067
Autor:
Aseel M. Sharaireh, Marta Guevara-Ferrer, Saul Herranz-Martin, Marina Garcia-Macia, Alexander Phillips, Anna Tierney, Michael P Hughes, Oliver Coombe-Tennant, Hemanth Nelvagel, Alysha E. Burrows, Stuart Fielding, Lorna M. FitzPatrick, Christopher D. Thornton, Stephan Storch, Sara E. Mole, Andrew Dowsey, Richard Unwin, Juan P. Bolanos, Ahad A. Rahim, Tristan R. McKay
The variant late infantile form of the inherited neurodegenerative Batten disease (BD) is caused by mutations in the CLN7/MFSD8 gene and represents a strong candidate for gene therapy. Post-natal intracerebral administration of AAV9-hCLN7 to Cln7Δex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b175299d2b06a797b0f2c7e77338648a
https://doi.org/10.1101/2022.04.21.488782
https://doi.org/10.1101/2022.04.21.488782
Autor:
Stephan Storch, Brecht Guillemyn, Bart P. Leroy, Miriam Bauwens, Rudy Van Coster, Elfride De Baere, Frauke Coppieters, Nicole Weisschuh, Sarah De Jaegere, Chantal Ceuterick-de Groote, Riet De Rycke
Publikováno v:
CLINICAL GENETICS
Clinical genetics
Clinical Genetics
Clinical genetics
Clinical Genetics
Biallelic MFSD8 variants are an established cause of severe late-infantile subtype of neuronal ceroid lipofuscinosis (v-LINCL), a severe lysosomal storage disorder, but have also been associated with nonsyndromic adult-onset maculopathy. Here, we fun