Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Leen Vendredy"'
Autor:
Meritxell Carrió, Helena Mazuelas, Yvonne Richaud-Patin, Bernat Gel, Ernest Terribas, Imma Rosas, Senda Jimenez-Delgado, Josep Biayna, Leen Vendredy, Ignacio Blanco, Elisabeth Castellanos, Conxi Lázaro, Ángel Raya, Eduard Serra
Publikováno v:
Stem Cell Reports, Vol 12, Iss 2, Pp 411-426 (2019)
Summary: Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop thr
Externí odkaz:
https://doaj.org/article/88a77f9a7c3e4807b0539d76fcbde7b1
Autor:
Elias Adriaenssens, Bob Asselbergh, Pablo Rivera-Mejías, Sven Bervoets, Leen Vendredy, Vicky De Winter, Katrien Spaas, Riet de Rycke, Gert van Isterdael, Francis Impens, Thomas Langer, Vincent Timmerman
Publikováno v:
NATURE CELL BIOLOGY
Nature cell biology
Nature cell biology
Adriaenssens et al. provide evidence suggesting that cytosolic small heat shock proteins localize to the mitochondrial intermembrane space, where they operate as molecular chaperones. Mitochondria are complex organelles with different compartments, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cbe01387ed2c4591e459deb51bdd34
https://doi.org/10.1038/s41556-022-01074-9
https://doi.org/10.1038/s41556-022-01074-9
Publikováno v:
Autophagy
Each protein must be synthesized with the correct amino acid sequence, folded into its native structure, and transported to a relevant subcellular location and protein complex. If any of these steps fail, the cell has the capacity to break down aberr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21501133659b83be63dbb0a0bb35e5ae
https://pubmed.ncbi.nlm.nih.gov/36594740
https://pubmed.ncbi.nlm.nih.gov/36594740
Autor:
Matthew J Jennings, Alexia Kagiava, Leen Vendredy, Emily L Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, Vicky De Winter, Burkhard Gess, Ulrike Schara, Oksana Pogoryelova, Hanns Lochmüller, Christoph H Borchers, Andreas Roos, Robert W Burgess, Vincent Timmerman, Kleopas A Kleopa, Rita Horvath
Publikováno v:
Brain
Molecular markers scalable for clinical use are critical for the development of effective treatments and the design of clinical trials. Here, we identify proteins in sera of patients and mouse models with Charcot-Marie-Tooth disease (CMT) with charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4795d8dcae57672a7c0b184c82ccfdb
Autor:
Jonas Van Lent, Leen Vendredy, Elias Adriaenssens, Tatiana Da Silva Authier, Bob Asselbergh, Marcus Kaji, Sarah Weckhuysen, Ludo Van Den Bosch, Jonathan Baets, Vincent Timmerman
Publikováno v:
Brain
Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the peripheral nervous system. CMT1A accounts for 40-50% of all cases and is caused by a duplication of the PMP22 gene on chromosome 17, leading to dysmyelination in the perip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::535ebb6d6e0a5a86c40869a46f8c9a5f
https://hdl.handle.net/10067/1929930151162165141
https://hdl.handle.net/10067/1929930151162165141
Autor:
Helena Mazuelas, Imma Rosas, Meritxell Carrió, Ernest Terribas, Angel Raya, Eduard Serra, Josep Biayna, Ignacio Blanco, Yvonne Richaud-Patin, Senda Jiménez-Delgado, Bernat Gel, Conxi Lázaro, Leen Vendredy, Elisabeth Castellanos
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Stem Cell Reports
Stem Cell Reports, Vol 12, Iss 2, Pp 411-426 (2019)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Universidad de Barcelona
Stem Cell Reports
Stem Cell Reports, Vol 12, Iss 2, Pp 411-426 (2019)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Summary Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop thro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8acd1bc377c36981a7b04aa2bebe7987
http://hdl.handle.net/2445/171527
http://hdl.handle.net/2445/171527
Publikováno v:
Cell stress and chaperones
Cell Stress & Chaperones
Cell Stress & Chaperones
Small heat shock proteins are ubiquitously expressed chaperones, yet mutations in some of them cause tissue-specific diseases. Here, we will discuss how small heat shock proteins give rise to neurodegenerative disorders themselves while we will also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaa5f5a1d94e31f0773a2cf3e7b9213d