Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia

Abstract Mutations in the gene encoding Tectonic β-propeller repeat-containing repeat protein 2 (TECPR2) cause hereditary sensory and autonomic neuropathy subtype 9 (HSAN9) which is a fatal neurodevelopmental and neurodegenerative disorder involving the sensory and peripheral nervous system. TECPR2...

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Autors principals:	Debjani Bhattacharya, Patricia da Silva-Buttkus, Karsten Nalbach, Lizhen Cheng, Lillian Garrett, Martin Irmler, Georg Kislinger, Georg Werner, Ramona Rodde, Christoph Lengger, Johannes Beckers, Annemarie Zimprich, Sabine M. Hölter, Valerie Gailus-Durner, Helmut Fuchs, Martin Hrabe de Angelis, Benedikt Wefers, Wolfgang Wurst, Monika S. Brill, Martina Schifferer, Stefan F. Lichtenthaler, Christian Behrends
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Publishing Group 2025-10-01
Col·lecció:	Cell Death and Disease
Accés en línia:	https://doi.org/10.1038/s41419-025-08168-w
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