Genetic pain loss disorders

Source
Nature reviews disease primers - ISSN 2056-676X-8:1 (2022) p. 1-23
Author(s)
    Annette Lischka, Petra Lassuthova, Arman Çakar, Christopher J. Record, Jonas Van Lent, Jonathan Baets, Maike F. Dohrn, Jan Senderek, Angelika Lampert, David L. Bennett, John N. Wood, Vincent Timmerman, Thorsten Hornemann, Michaela Auer-Grumbach, Yesim Parman, Christian A. Hübner, Miriam Elbracht, Katja Eggermann, C. Geoffrey Woods, James J. Cox, Mary M. Reilly, Ingo Kurth

A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins

Source
The EMBO journal - ISSN 0261-4189-40:8 (2021) p.
Author(s)
    T. Reid Alderson, Elias Adriaenssens, Bob Asselbergh, Iva Pritisanac, Jonas Van Lent, Heidi Y. Gastall, Marielle A. Walti, John M. Louis, Vincent Timmerman, Andrew J. Baldwin, Justin L.P. Benesch

BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes

Source
Scientific reports - ISSN 2045-2322-10:1 (2020) p.
Author(s)

Profiling peripheral nerve macrophages reveals two macrophage subsets with distinct localization, transcriptome and response to injury

Source
Nature neuroscience - ISSN 1097-6256-23:5 (2020) p. 676-689
Author(s)
    Elke Ydens, Lukas Amann, Bob Asselbergh, Charlotte L. Scott, Liesbet Martens, Dorine Sichien, Omar Mossad, Thomas Blank, Sofie De Prijck, Donovan Low, Takahiro Masuda, Yvan Saeys, Vincent Timmerman, Ralf Stumm, Florent Ginhoux, Marco Prinz, Sophie Janssens, Martin Guilliams

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

Source
Autophagy - ISSN 1554-8627-15:6 (2019) p. 1051-1068
Author(s)