N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue,Neuropathology and Applied Neurobiology

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N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue
Neuropathology and Applied Neurobiology ( IF 4.0 ) Pub Date : 2021-07-27 , DOI: 10.1111/nan.12750
Christoph S Clemen _{1,

2,

3} , Andreas Schmidt ₄ , Lilli Winter _{5,

6} , Fabio Canneva ₇ , Ilka Wittig ₈ , Lore Becker ₉ , Roland Coras ₅ , Carolin Berwanger ₁ , , Andreas Hofmann ₁₀ , Britta Eggers ₁₁ , Katrin Marcus ₁₁ , Valerie Gailus-Durner ₉ , Helmut Fuchs ₉ , Martin Hrabe de Angelis _{9,

12,

13} , Marcus Krüger ₄ , Stephan von Hörsten ₇ , Ludwig Eichinger ₃ , Rolf Schröder ₅

Affiliation

Institute of Aerospace Medicine, German Aerospace Center, Cologne, Germany.
Center for Physiology and Pathophysiology, Institute of Vegetative Physiology, Medical Faculty, University of Cologne, Cologne, Germany.
Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
Center for Molecular Medicine and Excellence Cluster "Cellular Stress Responses in Aging-Associated Diseases" (CECAD), University of Cologne, Cologne, Germany.
Institute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
Experimental Therapy, University Hospital Erlangen and Preclinical Experimental Center, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
Functional Proteomics, Medical School, Goethe University, Frankfurt, Germany.
Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Faculty of Veterinary and Agricultural Sciences, University of Melbourne, Parkville, Victoria, Australia.
Medical Proteome Center, Medical Faculty, and Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Ruhr-University Bochum, Bochum, Germany.
TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany.
German Center for Diabetes Research (DZD), Neuherberg, Germany.

We investigated N471D WASH complex subunit strumpellin (Washc5) knock-in and Washc5 knock-out mice as models for hereditary spastic paraplegia type 8 (SPG8).

中文翻译：

N471D WASH 复合亚基 strumpellin 敲入小鼠在脑组织中表现出轻度运动和心脏异常以及 BPTF 和 KLHL11 失调

我们研究了 N471D WASH 复合亚基 strumpellin ( Washc5 ) 敲入和Washc5敲除小鼠作为遗传性痉挛性截瘫 8 型 (SPG8) 的模型。

更新日期：2021-07-27

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