Zobrazeno 1 - 10
of 12
pro vyhledávání: '"drug effects [Fibroblasts]"'
Autor:
Anja U. Bräuer, Maria Vittoria Cubellis, Georg Fuellen, Jan Lukas, Anne-Katrin Giese, Arndt Rolfs, Mathias Ernst, Giuseppina Andreotti, Stephan Struckmann, Andreas Hermann, Linda Rebecca Haake, Anne-Marie Knospe, Claudia Cozma, Valentina Citro, Susanne Seemann, Chiara Cimmaruta, Dirk Koczan
Publikováno v:
Biochemical journal (Online) (2020). doi:10.1042/BCJ20190513
info:cnr-pdr/source/autori:Susanne Seemann ; Mathias Ernst ; Chiara Cimmaruta ; Stephan Struckmann ; Claudia Cozma ; Dirk Koczan ; Anne-Marie Knospe ; Linda R Haake ; Valentina Citro ; Anja U Bräuer ; Giuseppina Andreotti ; Maria V Cubellis ; Georg Fuellen ; Andreas Hermann ; Anne-Katrin Giese ; Arndt Rolfs ; Jan Lukas/titolo:Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypesin Fabry disease/doi:10.1042%2FBCJ20190513/rivista:Biochemical journal (Online)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume
The biochemical journal / Reviews 477(2), 359-380 (2020). doi:10.1042/BCJ20190513
Biochemical Journal
info:cnr-pdr/source/autori:Susanne Seemann ; Mathias Ernst ; Chiara Cimmaruta ; Stephan Struckmann ; Claudia Cozma ; Dirk Koczan ; Anne-Marie Knospe ; Linda R Haake ; Valentina Citro ; Anja U Bräuer ; Giuseppina Andreotti ; Maria V Cubellis ; Georg Fuellen ; Andreas Hermann ; Anne-Katrin Giese ; Arndt Rolfs ; Jan Lukas/titolo:Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypesin Fabry disease/doi:10.1042%2FBCJ20190513/rivista:Biochemical journal (Online)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume
The biochemical journal / Reviews 477(2), 359-380 (2020). doi:10.1042/BCJ20190513
Biochemical Journal
The lysosomal storage disorder Fabry disease is characterized by a deficiency of the lysosomal enzyme α-Galactosidase A. The observation that missense variants in the encoding GLA gene often lead to structural destabilization, endoplasmic reticulum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfda54713078b2d84fa25ecc480bef0a
https://doi.org/10.1042/bcj20190513
https://doi.org/10.1042/bcj20190513
Autor:
Eicke Latz, Victor Saavedra, Matthew Mangan, Anke Penno, Mario A. Lauterbach, Lars Kuerschner, Christoph Thiele
Publikováno v:
Autophagy
Autophagy 17(8), 1947-1961 (2021). doi:10.1080/15548627.2020.1804677
Autophagy 17(8), 1947-1961 (2021). doi:10.1080/15548627.2020.1804677
1-Deoxysphingolipids (deoxySLs) are atypical sphingolipids of clinical relevance as they are elevated in plasma of patients suffering from hereditary sensory and autonomic neuropathy (HSAN1) or type 2 diabetes. Their neurotoxicity is described best b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a7633b2425588b3dc8eb6ca3aa34a32
https://pubmed.ncbi.nlm.nih.gov/32835606
https://pubmed.ncbi.nlm.nih.gov/32835606
Autor:
Itishri Sahu, Lisann Pelzl, Mohamed Jemaà, Philip Höflinger, Rosi Bissinger, Ludger Schöls, Christos Stournaras, Florian Lang, Bhaeldin Elsir, Yogesh Singh, Basma Sukkar, Stefan Hauser
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Scientific reports 7(1), 6457 (2017). doi:10.1038/s41598-017-06451-1
Scientific reports 7(1), 6457 (2017). doi:10.1038/s41598-017-06451-1
Chorea-Acanthocytosis (ChAc), a neurodegenerative disorder, results from loss-of-function-mutations of chorein-encoding gene VPS13A. In tumour cells chorein up-regulates ORAI1, a Ca2+-channel accomplishing store operated Ca2+-entry (SOCE) upon stimul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36db6ff1d3e13eb71323692fdd992960
https://doaj.org/article/34fec634c07e43438b1686562183e2b0
https://doaj.org/article/34fec634c07e43438b1686562183e2b0
Autor:
Sybille Krauß, Karen L. Posey, Stephanie Weber, Susann Schweiger, Frank Matthes, Rainer Schneider, Dan Ehninger, Sandra Pfurtscheller, Eva Kickstein, Moritz M. Hettich
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
Scientific reports 7(1), 13753 (2017). doi:10.1038/s41598-017-12974-4
Scientific Reports
Scientific reports 7(1), 13753 (2017). doi:10.1038/s41598-017-12974-4
Scientific Reports
The formation of paired helical filaments (PHF), which are composed of hyperphosphorylated Tau protein dissociating from microtubules, is one of the pathological hallmarks of Alzheimer’s disease (AD) and other tauopathies. The most important phosph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::225f73d6601be10421fe5c4afb3819c4
https://doi.org/10.1038/s41598-017-12974-4
https://doi.org/10.1038/s41598-017-12974-4
Autor:
Sabina Honisch, Ludger Schoels, Christos Stournaras, Florian Lang, Basma Sukkar, Itishri Sahu, Andreas Hermann, Lisann Pelzl, Alexander Storch, Yogesh Singh, Bhaeldin Elsir, Elisabeth Lang, Mohamed Jemaà, Rosi Bissinger
Publikováno v:
Cellular Physiology and Biochemistry, Vol 42, Iss 5, Pp 2066-2077 (2017)
Cellular physiology and biochemistry 42(5), 2066-2077 (2017). doi:10.1159/000479901
Cellular physiology and biochemistry 42(5), 2066-2077 (2017). doi:10.1159/000479901
Background: The widely expressed protein chorein fosters activation of the phosphoinositide 3 kinase (PI3K) pathway thus supporting cell survival. Loss of function mutations of the chorein encoding gene VPS13A (vacuolar protein sorting-associated pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d4e2aa1cc30bf40e3b6ae6e53bdd801
https://pubmed.ncbi.nlm.nih.gov/28803243
https://pubmed.ncbi.nlm.nih.gov/28803243
Autor:
Christian Haass, Brigitte Kunze, Michael Willem, Nathalie Brouwers, Florenz Sasse, Aaron Carlson, R. Jansen, C. Van Broeckhoven, Sabine Liebscher, Anja Capell, Tobias Bittner, Dorothee Dormann, Jochen Herms, K. Sleegers, Sven Lammich, Katrin Fellerer, I. Gijselinck, Marc Cruts, Heinrich Steinmetz
Publikováno v:
The journal of neuroscience 31(5), 1885-1894 (2011). doi:10.1523/JNEUROSCI.5757-10.2011
The journal of neuroscience
The journal of neuroscience
Numerous loss-of-function mutations in the progranulin (GRN) gene cause frontotemporal lobar degeneration with ubiquitin and TAR–DNA binding protein 43-positive inclusions by reduced production and secretion of GRN. Consistent with the observation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::662e401447f9f8407217e8c11fa0f285
https://doi.org/10.1523/jneurosci.5757-10.2011
https://doi.org/10.1523/jneurosci.5757-10.2011
Autor:
Janaky Coomaraswamy, Frank Gillardon, Marta Garcia-Miralles, Mathias Jucker, Saskia Biskup, Dagmar Galter, Karina Häbig, Martina Maisel, Natalja Funk, Martin C. Herzig, Thomas Gasser
Publikováno v:
PLoS ONE
PLOS ONE 10(4), e0118947 (2015). doi:10.1371/journal.pone.0118947
PLoS ONE, Vol 10, Iss 4, p e0118947 (2015)
PLOS ONE 10(4), e0118947 (2015). doi:10.1371/journal.pone.0118947
PLoS ONE, Vol 10, Iss 4, p e0118947 (2015)
Mutations within the LRRK2 gene have been identified in Parkinson's disease (PD) patients and have been implicated in the dysfunction of several cellular pathways. Here, we explore how pathogenic mutations and the inhibition of LRRK2 kinase activity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c7e6cdd8399aefb612e7e411bdcf9e4
http://europepmc.org/articles/PMC4382199
http://europepmc.org/articles/PMC4382199
Autor:
Ruschel, Jörg, Hellal, Farida, Peitz, Michael, Brüstle, Oliver, Norenberg, Michael D, Blesch, Armin, Weidner, Norbert, Bunge, Mary Bartlett, Bixby, John L, Bradke, Frank, Flynn, Kevin C, Dupraz, Sebastian, Elliott, David A, Tedeschi, Andrea, Bates, Margaret, Sliwinski, Christopher, Brook, Gary, Dobrindt, Kristina
Publikováno v:
Science / Science now 348(6232), 347-352 (2015). doi:10.1126/science.aaa2958
After central nervous system (CNS) injury, inhibitory factors in the lesion scar and poor axon growth potential prevent axon regeneration. Microtubule stabilization reduces scarring and promotes axon growth. However, the cellular mechanisms of this d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10678::75fc9425e0a9cf5626c9fd506b6e57d1
https://pub.dzne.de/record/137893
https://pub.dzne.de/record/137893
Autor:
Ana Gómez, María José Casarejos, Conceição Bettencourt, Jose Lopez-Sendon, Justo García de Yébenes, Juan Perucho, Maria Angeles Mena, Carolina Ruiz, Peter Heutink, Patrizia Rizzu
Publikováno v:
PLOS ONE 9(9), e106931 (2014). doi:10.1371/journal.pone.0106931
PLoS ONE
PLoS ONE, Vol 9, Iss 9, p e106931 (2014)
PLoS ONE
PLoS ONE, Vol 9, Iss 9, p e106931 (2014)
In this work we investigate the role of CHIP in a new CHIP-mutation related ataxia and the therapeutic potential of trehalose. The patient's fibroblasts with a new form of hereditary ataxia, related to STUB1 gene (CHIP) mutations, and three age and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7096ec5e9fc555a4f6b495753931360
https://pub.dzne.de/record/137571
https://pub.dzne.de/record/137571
Autor:
Diane Lucente, Stephen J. Haggarty, Uma Chandrachud, John F. Staropoli, Ronald G. Crystal, Hans R. Schöler, Kendrick A. Goss, Anton Petcherski, Dolan Sondhi, Steven D. Sheridan, Andreas Hermann, Susan L. Cotman, Xenia Lojewski, Sunita Biswas-Legrand, Martin K. Selig, Katherine B. Sims, James F. Gusella, Alexander Storch, Scott H. Coppel, Larissa Haliw, Jared Sterneckert, Peter Reinhardt, Alexandra M. Simas
Publikováno v:
Human molecular genetics 23(8), 2005-2022 (2013). doi:10.1093/hmg/ddt596
Neuronal ceroid lipofuscinosis (NCL) comprises ∼13 genetically distinct lysosomal disorders primarily affecting the central nervous system. Here we report successful reprograming of patient fibroblasts into induced pluripotent stem cells (iPSCs) fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d313bea46ea0728efda39427170896
https://pubmed.ncbi.nlm.nih.gov/24271013
https://pubmed.ncbi.nlm.nih.gov/24271013