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Neurodegenerative Disorders

A growing aging population means that age-dependent neurodegenerative disorders are affecting increasing numbers of people. Model systems have proven to be excellent tools for studying neurodegenerative processes, facilitating drug discovery in this area. DMM features reviews, research, resources, interviews and other articles, including specially commissioned content from our 2017 special issue Neurodegeneration: from Models to Mechanisms to Therapies, which was guest edited by Aaron Gitler and James Shorter.

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RESEARCH ARTICLE

Mutations in the bone morphogenetic protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations

John R. Klem; Tae-Hwi Schwantes-An; Marco Abreu; Michael Suttie; Raèden Gray; Hieu D. L. Vo; Grace Conley; Tatiana M. Foroud; Leah Wetherill; Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD); C. Ben Lovely

08 April 2025

https://doi.org/10.1242/dmm.052223

RESEARCH ARTICLE

Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction

Claire B. Montgomery; Lili Salinas; Garrett P. Cox; Lauren E. Adcock; Tiffany Chang; Francisco Figueroa; Gino Cortopassi; Elena N. Dedkova

02 April 2025

https://doi.org/10.1242/dmm.052128

RESEARCH ARTICLE

A bacterial artificial chromosome mouse model of amyotrophic lateral sclerosis manifests ‘space cadet syndrome’ on two FVB backgrounds

Sophie E. Badger; Ian Coldicott; Ergita Kyrgiou-Balli; Adrian Higginbottom; Chloé Moutin; Kamallia Mohd Imran; John C. Day; Johnathan Cooper-Knock; Richard J. Mead; James J. P. Alix

13 February 2025

https://doi.org/10.1242/dmm.052221

RESEARCH ARTICLE

Loss of function of VCP/TER94 causes neurodegeneration

Kohei Tsumaki; Christian J. F. Bertens; Minoru Nakayama; Saya Kato; Yuki Jonao; Ayu Kuribayashi; Konosuke Sato; Shota Ishiyama; Momoko Asakawa; Riko Aihara; Yuki Yoshioka; Hidenori Homma; Hikari Tanaka; Kyota Fujita; Hitoshi Okazawa; Masaki Sone

23 December 2024

https://doi.org/10.1242/dmm.050359

RESEARCH ARTICLE

Stat3 mediates Fyn kinase-driven dopaminergic neurodegeneration and microglia activation

Sahiba Siddiqui; Fang Liu; Anumantha G. Kanthasamy; Maura McGrail

06 December 2024

https://doi.org/10.1242/dmm.052011

RESEARCH ARTICLE

Distinct fingerprints of tRNA-derived small non-coding RNA in animal models of neurodegeneration

Sharada Baindoor; Hesham A. Y. Gibriel; Morten T. Venø; Junyi Su; Elena Perez Morrissey; Elisabeth Jirström; Ina Woods; Aidan Kenny; Mariana Alves; Luise Halang; Paola Fabbrizio; Maria Bilen; Tobias Engel; Marion C. Hogg; Caterina Bendotti; Giovanni Nardo; Ruth S. Slack; Jørgen Kjems; Jochen H. M. Prehn

18 November 2024

https://doi.org/10.1242/dmm.050870

RESEARCH ARTICLE

Modulation of SNARE-dependent exocytosis in astrocytes improves neuropathology in Huntington's disease

Annesha C. King; Emily Payne; Emily Stephens; Jahmel A. Fowler; Tara E. Wood; Efrain Rodriguez; Michelle Gray

11 November 2024

https://doi.org/10.1242/dmm.052002

RESEARCH ARTICLE

Neuromuscular junction dysfunction in Lafora disease

Monica Shukla; Deepti Chugh; Subramaniam Ganesh

14 October 2024

https://doi.org/10.1242/dmm.050905

RESEARCH ARTICLE

A Drosophila model for mechanistic investigation of tau protein spread

Kondalarao Bankapalli; Ruth E. Thomas; Evelyn S. Vincow; Gillian Milstein; Laura V. Fisher; Leo J. Pallanck

01 October 2024

https://doi.org/10.1242/dmm.050858

RESEARCH ARTICLE

Activation of the heat shock response as a therapeutic strategy for tau toxicity

Taylor R. Stanley; Elizabeth M. Otero; Amy L. Knight; Aleen D. Saxton; Xinxing Ding; Melissa Borgen; Brian C. Kraemer; Karen S. Kim Guisbert; Eric Guisbert

01 October 2024

https://doi.org/10.1242/dmm.050635

RESEARCH ARTICLE

A deleterious variant of INTS1 leads to disrupted sleep–wake cycles

Shir Confino; Yair Wexler; Adar Medvetzky; Yotam Elazary; Zohar Ben-Moshe; Joel Reiter; Talya Dor; Simon Edvardson; Gali Prag; Tamar Harel; Yoav Gothilf

27 August 2024

https://doi.org/10.1242/dmm.050746

RESEARCH ARTICLE

An ALS-associated mutation dysregulates microglia-derived extracellular microRNAs in a sex-specific manner

Eleni Christoforidou; Libby Moody; Greig Joilin; Fabio A. Simoes; David Gordon; Kevin Talbot; Majid Hafezparast

29 May 2024

https://doi.org/10.1242/dmm.050638

RESOURCES & METHODS

Transgenic Dendra2::tau expression allows in vivo monitoring of tau proteostasis in Caenorhabditis elegans

Marina Han; Aleen Saxton; Heather Currey; Sarah M. Waldherr; Nicole F. Liachko; Brian C. Kraemer

28 March 2024

https://doi.org/10.1242/dmm.050473

RESEARCH ARTICLE

Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations

Zeinab Ali; Juan M. Godoy-Corchuelo; Aurea B. Martins-Bach; Irene Garcia-Toledo; Luis C. Fernández-Beltrán; Remya R. Nair; Shoshana Spring; Brian J. Nieman; Irene Jimenez-Coca; Rasneer S. Bains; Hamish Forrest; Jason P. Lerch; Karla L. Miller; Elizabeth M. C. Fisher; Thomas J. Cunningham; Silvia Corrochano

23 October 2023

https://doi.org/10.1242/dmm.050200

RESEARCH ARTICLE

Sodium butyrate does not protect spinal motor neurons from AMPA-induced excitotoxic degeneration in vivo

Mara Prior-González; Rafael Lazo-Gómez; Ricardo Tapia

13 October 2023

https://doi.org/10.1242/dmm.049851

RESEARCH ARTICLE

Glycosphingolipids are linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick type C

Anna E. Eberwein; Swarat S. Kulkarni; Emma Rushton; Kendal Broadie

12 October 2023

https://doi.org/10.1242/dmm.050206

RESEARCH ARTICLE

Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency

Nicole M. Sayles; Jill S. Napierala; Josef Anrather; Nadège Diedhiou; Jixue Li; Marek Napierala; Hélène Puccio; Giovanni Manfredi

09 October 2023

https://doi.org/10.1242/dmm.050114

RESEARCH ARTICLE

OPA1 deficiency impairs oxidative metabolism in cycling cells, underlining a translational approach for degenerative diseases

Aurélie M. C. Millet; Corentin Coustham; Camille Champigny; Nadege Merabet; Marlène Botella; Christine Demeilliers; Anne Devin; Anne Galinier; Pascale Belenguer; Joel Bordeneuve-Guibé; Noélie Davezac

20 September 2023

https://doi.org/10.1242/dmm.050266

RESEARCH ARTICLE

Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3

David Mengel; Isabel G. Wellik; Kristen H. Schuster; Sabrina I. Jarrah; Madeleine Wacker; Naila S. Ashraf; Gülin Öz; Matthis Synofzik; Maria do Carmo Costa; Hayley S. McLoughlin

04 September 2023

https://doi.org/10.1242/dmm.050144

RESEARCH ARTICLE

A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes

Vicki J. Swier; Katherine A. White; Tyler B. Johnson; Xiaojun Wang; Jimin Han; David A. Pearce; Ruchira Singh; Arlene V. Drack; Wanda Pfeifer; Christopher S. Rogers; Jon J. Brudvig; Jill M. Weimer

07 August 2023

https://doi.org/10.1242/dmm.050038

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Neurodegenerative Disorders

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