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Calakos, N.* ; Zech, M.

Emerging molecular-genetic families in dystonia: Endosome-autophagosome-lysosome and integrated stress response pathways.

Mov. Disord., DOI: 10.1002/mds.30037 (2024)
Verlagsversion DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular-genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes. Here, we discuss two of these, the endosome-autophagosome-lysosome pathway and the integrated stress response, to highlight recent advances in the field. Using these two pathomechanisms as examples, we further discuss the opportunities that molecular-genetic grouping of dystonias present to transform dystonia care. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Autophagy; Endosomal Trafficking; Dystonia; Eif2 α; Eif2s1; Hops Complex; Integrated Stress Response; Isr; Lysosome.; Striatal Cholinergic Interneurons; Eif2-alpha Dephosphorylation; Selective-inhibition; Synaptic Plasticity; Storage Diseases; Prkra Mutations; Mouse Model; Disorders; Dysfunction; Dyt16
Sprache englisch
Veröffentlichungsjahr 2024
HGF-Berichtsjahr 2024
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Zeitschrift Movement Disorders
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
Förderungen Projekt DEAL
European Joint Programme on Rare Diseases (EJP RD)
German Federal Ministry of Education and Research (BMBF, Bonn, Germany)
Federal Ministry of Education and Research (BMBF)
Free State of Bavaria under the Excellence Strategy of the Federal Government
Lander
Technical University of Munich-Institute for Advanced Study
Schlusselprojekt grant from the Else Kroner-Fresenius-Stiftung
German Research Foundation (DFG)
DOI 10.1002/mds.30037
WOS ID 001344376600001
Scopus ID 85207895432
PubMed ID 39467044
Erfassungsdatum 2024-10-29
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