Zobrazeno 1 - 10
of 188
pro vyhledávání: '"metabolism [Lysosomes]"'
Autor:
Manoj Kumar, Manasa P Srikanth, Michela Deleidi, Penelope J Hallett, Ole Isacson, Ricardo A Feldman
Publikováno v:
Human molecular genetics 32(11), 1888-1900 (2023). doi:10.1093/hmg/ddad025
Bi-allelic mutations in GBA1, the gene that encodes β-glucocerebrosidase (GCase), cause Gaucher disease (GD), whereas mono-allelic mutations do not cause overt pathology. Yet mono- or bi-allelic GBA1 mutations are the highest known risk factor for P
Autor:
Pascale Baden, Maria Jose Perez, Hariam Raji, Federico Bertoli, Stefanie Kalb, María Illescas, Fokion Spanos, Claudio Giuliano, Alessandra Maria Calogero, Marvin Oldrati, Hannah Hebestreit, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H. V. Schapira, Cristina Ugalde, Michela Deleidi
Publikováno v:
Nature Communications 14(1), 1930 (2023). doi:10.1038/s41467-023-37454-4
Mutations in GBA1, the gene encoding the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher’s disease, are the most frequent genetic risk factor for Parkinson’s disease (PD). Here, we employ global proteomic and single-cell genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27055f5aa48d03d5dd4db093bb00cd70
Autor:
Daniel Erskine, David J. Koss, Johannes Attems, Viktor I. Korolchuk, Ian G. McKeith, Tiago F. Outeiro
Publikováno v:
Acta Neuropathologica
Acta neuropathologica 141(4), 511-526 (2021). doi:10.1007/s00401-021-02266-7
Acta neuropathologica 141(4), 511-526 (2021). doi:10.1007/s00401-021-02266-7
Accumulation of the protein α-synuclein into insoluble intracellular deposits termed Lewy bodies (LBs) is the characteristic neuropathological feature of LB diseases, such as Parkinson’s disease (PD), Parkinson’s disease dementia (PDD) and demen
Publikováno v:
Cells, Vol 11, Iss 507, p 507 (2022)
Cells 11(3), 507 (2022). doi:10.3390/cells11030507
Cells; Volume 11; Issue 3; Pages: 507
Cells 11(3), 507 (2022). doi:10.3390/cells11030507
Cells; Volume 11; Issue 3; Pages: 507
Defective mitochondria are pathophysiological features of a number of neurodegenerative diseases. Here, we investigated mitochondrial dysfunction in the context of the rare lysosomal storage diseases Niemann–Pick disease type C1 and type C2 (NP-C1
Autor:
Carmen Klepka, Moritz Sandmann, Helma Tatge, Matthew Mangan, Annabel Arens, Daniel Henkel, Ralf Gerhard
Publikováno v:
Molecular microbiology 117(2), 493-507 (2022). doi:10.1111/mmi.14864
TcdB is a potent cytotoxin produced by pathogenic Clostridioides difficile that inhibits Rho GTPases by mono-glucosylation. TcdB enters cells via receptor-mediated endocytosis. The pathogenic glucosyltransferase domain (GTD) egresses endosomes by pH-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af5bef71e9418fd4c0a2a3c1227bf30
https://pub.dzne.de/record/163585
https://pub.dzne.de/record/163585
Autor:
Anika Reifschneider, Sophie Robinson, Bettina van Lengerich, Johannes Gnörich, Todd Logan, Steffanie Heindl, Miriam A Vogt, Endy Weidinger, Lina Riedl, Karin Wind, Artem Zatcepin, Ida Pesämaa, Sophie Haberl, Brigitte Nuscher, Gernot Kleinberger, Julien Klimmt, Julia K Götzl, Arthur Liesz, Katharina Bürger, Matthias Brendel, Johannes Levin, Janine Diehl‐Schmid, Jung Suh, Gilbert Di Paolo, Joseph W Lewcock, Kathryn M Monroe, Dominik Paquet, Anja Capell, Christian Haass
Publikováno v:
The EMBO journal 41(4), e109108 (2022). doi:10.15252/embj.2021109108
Haploinsufficiency of the progranulin (PGRN)-encoding gene (GRN) causes frontotemporal lobar degeneration (GRN-FTLD) and results in microglial hyperactivation, TREM2 activation, lysosomal dysfunction, and TDP-43 deposition. To understand the contribu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::561d67316e9f278a34f08b959e8dd608
https://pub.dzne.de/record/163471
https://pub.dzne.de/record/163471
Autor:
Elisabeth Dinter, Diana Cozma, Björn H. Falkenburger, Theodora Saridaki, Eva M. Szegö, Anna Maria Hilverling
Publikováno v:
Cellular and Molecular Neurobiology
Cellular and molecular neurobiology 42(1), 155-171 (2022). doi:10.1007/s10571-021-01116-0
Cellular and molecular neurobiology 42, 155-171 (2022). doi:10.1007/s10571-021-01116-0
Cellular and molecular neurobiology 42(1), 155-171 (2022). doi:10.1007/s10571-021-01116-0
Cellular and molecular neurobiology 42, 155-171 (2022). doi:10.1007/s10571-021-01116-0
Cellular and molecular neurobiology 42, 155-171 (2022). doi:10.1007/s10571-021-01116-0
Published by Springer Science + Business Media B.V, Dordrecht
Published by Springer Science + Business Media B.V, Dordrecht
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85b5010f448c6f241c94a7823fe27b1c
Publikováno v:
The EMBO journal, 41(7):e110057
The EMBO journal 41(7), e110057 (2022). doi:10.15252/embj.2021110057
The EMBO journal 41(7), e110057 (2022). doi:10.15252/embj.2021110057
Synaptic function crucially relies on the constant supply and removal of neuronal membranes. The morphological complexity of neurons poses a significant challenge for neuronal protein transport since the machineries for protein synthesis and degradat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa05bd6d8bb51a27119bc0d73478ae71
https://www.embopress.org/doi/full/10.15252/embj.2021110057#support-information-section
https://www.embopress.org/doi/full/10.15252/embj.2021110057#support-information-section
Autor:
Bernd Knöll, Renate Lüllmann-Rauch, Paul Saftig, Christian Haass, Yasuo Uchiyama, Wolfgang Wurst, Renate Wanner, Anja Capell, Rudi D'Hooge, Georg Werner, Stijn Stroobants, Patrick Lüningschrör, Benedikt Wefers, Daniela Sinske, Soichiro Kakuta, Michael Sendtner, Benjamin Dombert, Markus Damme
Publikováno v:
Cell Reports, Vol 30, Iss 10, Pp 3506-3519.e6 (2020)
Cell reports 30(10), 3506-3519.e6 (2020). doi:10.1016/j.celrep.2020.02.060
Cell reports 30(10), 3506-3519.e6 (2020). doi:10.1016/j.celrep.2020.02.060
Summary: Genetic variations in TMEM106B, coding for a lysosomal membrane protein, affect frontotemporal lobar degeneration (FTLD) in GRN- (coding for progranulin) and C9orf72-expansion carriers and might play a role in aging. To determine the physiol
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