BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Autor: Adriana P. Rebelo, Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi, Danique Beijer, Brooke Aaron, Jana Vandrovcova, Henry Houlden, Leslie Matalonga, Lisa Abreu, Guy Rouleau, Mehrdad A. Estiar, Liedewei Van de Vondel, Ziv Gan-Or, Jonathan Baets, Rebecca Schüle, Stephan Zuchner

Publikováno v: Genetics in medicine 12, 2487-2500 (2022). doi:10.1016/j.gim.2022.08.019
Genetics in medicine

The chaperone protein BiP is the master regulator of the unfolded protein response in the endoplasmic reticulum. BiP chaperone activity is regulated by the post-translational modification AMPylation, exclusively provided by FICD. We investigated whet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa5233d0f90f6335712dd91820fe7f80
https://doi.org/10.1016/j.gim.2022.08.019

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

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

Disruption of Structural Disulfides of Coagulation FXIII-B Subunit; Functional Implications for a Rare Bleeding Disorder

Autor: Johannes Dodt, Sneha Singh, Vytautas Ivaskevicius, Mohammad Suhail Akhter, Johannes Oldenburg, Hamideh Yadegari, Senthilvelrajan Kaniyappan, Arijit Biswas, Amit Sharma

Publikováno v: International journal of molecular sciences 20(8), 1956 (2019). doi:10.3390/ijms20081956
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 20, Iss 8, p 1956 (2019)

Congenital FXIII deficiency is a rare bleeding disorder in which mutations are detected in F13A1 and F13B genes that express the two subunits of coagulation FXIII, the catalytic FXIII-A, and protective FXIII-B. Mutations in FXIII-B subunit are consid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0146dfee768c82efd10c6e70e32cfd6

The Chaperone UNC93B1 Regulates Toll-like Receptor Stability Independently of Endosomal TLR Transport

Autor: Felix Meissner, Melanie M. Brinkmann, Anette Christ, Kensuke Miyake, Damien Bertheloot, Ann Marshak-Rothstein, Susanne V. Schmidt, Albert Haas, Nir Hacohen, Rainer Stahl, Nicki Watson, Karin Pelka, Elisa Reimer, Kshiti Phulphagar, Eicke Latz

Publikováno v: Immunity 48(5), 911-922.e7 (2018). doi:10.1016/j.immuni.2018.04.011

Unc-93 homolog B1 (UNC93B1) is a key regulator of nucleic acid (NA)-sensing Toll-like receptors (TLRs). Loss of NA-sensing TLR responses in UNC93B1-deficient patients facilitates Herpes simplex virus type 1 (HSV-1) encephalitis. UNC93B1 is thought to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56435af85e42171a78bb76727c353ed