Blood <scp><i>DDIT4</i></scp> and <scp><i>TRIM13</i></scp> Transcript Levels Mark the Early Stages of Machado–Joseph Disease
Overall, blood DDIT4 and TRIM13 transcript levels are potential biomarkers of MJD. Cellular processes involving DDIT4, TRIM13, and P2RY13 appear to be commonly dysregulated in the blood and brain of MJD patients, indicating the involvement of these genes in MJD pathogenesis. ANN NEUROL 2025;98:107-119.
Authors
- Louisa Liu (ORCID: https://orcid.org/0000-0002-5659-929X)
- João Vasconcelos (ORCID: https://orcid.org/0000-0002-5866-7460)
- Laura Bannach Jardim (ORCID: https://orcid.org/0000-0001-6907-5068)
- Manuela Lima (ORCID: https://orcid.org/0000-0002-3357-3273)
- Maria do Carmo Costa (ORCID: https://orcid.org/0000-0001-8466-4864)
- Mafalda Raposo (ORCID: https://orcid.org/0000-0001-6899-0352)
- Emily D. Shaw
- Conceição Bettencourt (ORCID: https://orcid.org/0000-0001-9090-7690)
- Ana F. Ferreira (ORCID: https://orcid.org/0000-0001-9839-3364)
- Maria Luiza Saraiva Pereira (ORCID: https://orcid.org/0000-0003-3905-9563)
- Teresa Kay (ORCID: https://orcid.org/0000-0003-3622-2281)
Institutions
- Universidade dos Açores (PT)
- Universidade Federal do Rio Grande do Sul (BR)
- Universidade do Porto (PT)
- Hospital de Clínicas de Porto Alegre (BR)
- Michigan Medicine (US)
- Hospital de Dona Estefânia (PT)
- Hospital do Divino Espírito Santo (PT)
- National Hospital for Neurology and Neurosurgery (GB)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
- University College London (GB)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2025-03-05
- DOI
- https://doi.org/10.1002/ana.27222
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.91