Výsledky vyhledávání - "genetics [Endoplasmic Reticulum]"

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

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

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

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Unbiased proteomic profiling reveals the IP3R modulator AHCYL1/IRBIT as a novel interactor of microtubule-associated protein tau

Autor: Lena Wischhof, Aasha Adhikari, Mrityunjoy Mondal, Anaïs Marsal-Cots, Jacek Biernat, Eva Maria Mandelkow, Eckhard Mandelkow, Dan Ehninger, Pierluigi Nicotera, Daniele Bano

Publikováno v: The journal of biological chemistry 298(4), 101774 (2022). doi:10.1016/j.jbc.2022.101774
The Journal of Biological Chemistry

Microtubule-associated protein tau is a naturally unfolded protein that can modulate a vast array of physiological processes through direct or indirect binding with molecular partners. Aberrant tau homeostasis has been implicated in the pathogenesis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9afa5e92eaa371e963a4b0f7e6dd11ef
https://pub.dzne.de/record/163729

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CD82 controls CpG‐dependent TLR9 signaling

Publikováno v: The FASEB journal 33(11), 12500-12514 (2019). doi:10.1096/fj.201901547R

The tetraspanin CD82 is a potent suppressor of tumor metastasis and regulates several processes including signal transduction, cell adhesion, motility, and aggregation. However, the mechanisms by which CD82 participates in innate immunity are unknown

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fff8102b319cdbe55e5fc0cb17c5ab0
https://doi.org/10.1096/fj.201901547r

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Proteasomal Dysfunction and Endoplasmic Reticulum Stress Enhance Trafficking of Prion Protein Aggregates through the Secretory Pathway and Increase Accumulation of Pathologic Prion Protein

Autor: Sabine Gilch, Kerstin Ackermann, Hanna Wolf, Lars Gädtke, Martin H. Groschup, Ina Vorberg, Hermann M. Schätzl, Max Nunziante, Kim Dietrich

Publikováno v: The journal of biological chemistry 286(39), 33942-33953 (2011). doi:10.1074/jbc.M111.272617

A conformational change of the cellular prion protein (PrP(c)) underlies formation of PrP(Sc), which is closely associated with pathogenesis and transmission of prion diseases. The precise conformational prerequisites and the cellular environment nec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::978e422950ffdb7df25198d5767b29c9
https://doi.org/10.1074/jbc.m111.272617

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Structural features within the nascent chain regulate alternative targeting of secretory proteins to mitochondria

Autor: Lisa Michelle Restelli, Sven Lang, Konstanze F. Winklhofer, Margit Miesbauer, Richard Zimmermann, Daniela Dirndorfer, Natalie V. Pfeiffer, Stephan Frank, Albert Neutzner, Ulrike K. Resenberger, Charles Hemion, Jörg Tatzelt

Publikováno v: The EMBO journal 32(7), 1036-1051 (2013). doi:10.1038/emboj.2013.46
The EMBO journal

Protein targeting to specified cellular compartments is essential to maintain cell function and homeostasis. In eukaryotic cells, two major pathways rely on N-terminal signal peptides to target proteins to either the endoplasmic reticulum (ER) or mit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edbebae32a3ff94eb819c3f769ccc117
https://pub.dzne.de/record/136864

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Surveillance-activated defenses block the ROS-induced mitochondrial unfolded protein response

Autor: Runkel, Eva D., Liu, Shu, Baumeister, Ralf, Schulze, Ekkehard

Publikováno v: PLoS Genetics 9(3), e1003346 (2013). doi:10.1371/journal.pgen.1003346
PLoS Genetics, Vol 9, Iss 3, p e1003346 (2013)
PLoS Genetics

Disturbance of cellular functions results in the activation of stress-signaling pathways that aim at restoring homeostasis. We performed a genome-wide screen to identify components of the signal transduction of the mitochondrial unfolded protein resp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2606c45f4a070a25ac3c475a5ec56daa
https://pub.dzne.de/record/141390

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Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells

Autor: Johanna Dudek, Julia Benedix, Sorin V. Fedeles, Elmar Krause, Stefan Somlo, Sven Lang, Ludwig Edelmann, Birgit Kreutzer, Richard Zimmermann, Markus Greiner, Nico Schäuble, Carolin Jalal, Claudia Schirra, Jens Rettig, Stefan Schorr, Jörg Tatzelt, Sarah Haßdenteufel

Publikováno v: Journal of cell science 125(8), 1958-1969 (2012). doi:10.1242/jcs.096727

Co-translational transport of polypeptides into the endoplasmic reticulum (ER) involves the Sec61 channel and additional components such as the ER lumenal Hsp70 BiP and its membrane resident co-chaperone Sec63p in yeast. Here we investigated whether

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7781d2d02dba5ecf7561c70732febc3
https://pubmed.ncbi.nlm.nih.gov/22375059

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α-Helical Domains Promote Translocation of Intrinsically Disordered Polypeptides into the Endoplasmic Reticulum*

Autor: Veronika Müller, Jörg Tatzelt, Margit Miesbauer, Natalie V. Pfeiffer, Konstanze F. Winklhofer, Angelika S. Rambold, Sophia Kiachopoulos

Publikováno v: The Journal of Biological Chemistry
The journal of biological chemistry 284(36), 24384-24393 (2009). doi:10.1074/jbc.M109.023135

Co-translational import into the endoplasmic reticulum (ER) is primarily controlled by N-terminal signal sequences that mediate targeting of the ribosome-nascent chain complex to the Sec61/translocon and initiate the translocation process. Here we sh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b429b9fe6fe88e05e9ea33fae13a9d30
https://europepmc.org/articles/PMC2782031/

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Expression of the ryanodine receptor type 3 in skeletal muscle. A new partner in excitation-contraction coupling?

Autor: Carlo Reggiani, Vincenzo Sorrentino

Publikováno v: Trends in cardiovascular medicine. 9(1-2)

Mobilization of Ca2+ from the endoplasmic reticulum (ER) is mediated by two related groups of Ca2+ release channels, the inositol 1,4,5 trisphosphate (InsP3) receptors and the ryanodine receptors. The InsP3 receptors have been studied in a large numb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0f94e335c377a440572c9e6ce9aaf1e
https://pubmed.ncbi.nlm.nih.gov/10189968

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