Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders
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- Ataxin-2 polyglutamine expansions aberrantly sequester TDP-43 ribonucleoprotein condensates disrupting mRNA transport and local translation in neurons, Developmental Cell, 60, 2, (253-269.e5), (2025).https://doi.org/10.1016/j.devcel.2024.09.023
- Co-Aggregation of TDP-43 with Other Pathogenic Proteins and Their Co-Pathologies in Neurodegenerative Diseases, International Journal of Molecular Sciences, 25, 22, (12380), (2024).https://doi.org/10.3390/ijms252212380
- Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population, Biomedicines, 12, 2, (356), (2024).https://doi.org/10.3390/biomedicines12020356
- The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease, Cell Death & Disease, 15, 6, (2024).https://doi.org/10.1038/s41419-024-06812-5
- Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort , Ophthalmic Genetics, 44, 3, (246-252), (2023).https://doi.org/10.1080/13816810.2023.2191704
- Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?, Genetics in Medicine, 25, 2, (100327), (2023).https://doi.org/10.1016/j.gim.2022.10.009
- Genomic and transcriptomic advances in amyotrophic lateral sclerosis, Ageing Research Reviews, 92, (102126), (2023).https://doi.org/10.1016/j.arr.2023.102126
- Genetics of Dominant Ataxias, Trials for Cerebellar Ataxias, (115-139), (2023).https://doi.org/10.1007/978-3-031-24345-5_4
- Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism , Movement Disorders Clinical Practice, 10, 4, (664-669), (2023).https://doi.org/10.1002/mdc3.13699
- Hereditary glaucoma: clinical and genetic characteristics, National Journal glaucoma, 21, 4, (65-78), (2022).https://doi.org/10.53432/2078-4104-2022-21-4-65-78
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