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The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease.
- Published in:
- Cell Death & Disease, 2024, v. 15, n. 6, p. 1, doi. 10.1038/s41419-024-06812-5
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- Article
Measuring healthy ageing: current and future tools.
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- Biogerontology, 2023, v. 24, n. 6, p. 845, doi. 10.1007/s10522-023-10041-2
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- Article
On the role of RNA binding proteins in polyglutamine diseases: from pathogenesis to therapeutics.
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- Neural Regeneration Research, 2023, v. 18, n. 12, p. 2695, doi. 10.4103/1673-5374.373711
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- Article
stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 6, p. 2346, doi. 10.1093/brain/awac473
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- Article
Autophagy in Spinocerebellar Ataxia Type 3: From Pathogenesis to Therapeutics.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7405, doi. 10.3390/ijms24087405
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- Article
Mutant Ataxin-2 Expression in Aged Animals Aggravates Neuropathological Features Associated with Spinocerebellar Ataxia Type 2.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11896, doi. 10.3390/ijms231911896
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- Article
The autophagy‐enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado–Joseph disease.
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- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 1, p. 1, doi. 10.1111/nan.12763
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- Article
Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy.
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- Cell Death & Disease, 2021, v. 12, n. 12, p. 1, doi. 10.1038/s41419-021-04404-1
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- Article
Stress granules, RNA-binding proteins and polyglutamine diseases: too much aggregation?
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- Cell Death & Disease, 2021, v. 12, n. 6, p. 1, doi. 10.1038/s41419-021-03873-8
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- Article
Current Status of Gene Therapy Research in Polyglutamine Spinocerebellar Ataxias.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4249, doi. 10.3390/ijms22084249
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- Article
Lauroylated Histidine-Enriched S413-PV Peptide as an Efficient Gene Silencing Mediator in Cancer Cells.
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- Pharmaceutical Research, 2020, v. 37, n. 10, p. 1, doi. 10.1007/s11095-020-02904-x
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- Article
The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington's disease.
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- BMC Research Notes, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13104-020-05053-x
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- Article
Trehalose alleviates the phenotype of Machado-Joseph disease mouse models.
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- 2020
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- journal article
Ibuprofen enhances synaptic function and neural progenitors proliferation markers and improves neuropathology and motor coordination in Machado–Joseph disease models.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3691, doi. 10.1093/hmg/ddz097
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- Article
Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia.
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- Acta Neuropathologica, 2019, v. 138, n. 5, p. 837, doi. 10.1007/s00401-019-02019-7
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- Article
MSGP: the first database of the protein components of the mammalian stress granules.
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- Database: The Journal of Biological Databases & Curation, 2019, v. 2019, p. N.PAG, doi. 10.1093/database/baz031
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- Article
Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado–Joseph disease models.
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- Human Molecular Genetics, 2019, v. 28, n. 1, p. 51, doi. 10.1093/hmg/ddy328
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- Article
Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy.
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- Journal of Neurochemistry, 2019, v. 148, n. 1, p. 8, doi. 10.1111/jnc.14541
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- Article
Editorial: Gene Silencing and Editing Strategies for Neurodegenerative Diseases.
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- Frontiers in Neuroscience, 2018, p. 1, doi. 10.3389/fnins.2018.00425
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- Article
The contribution of genetics and environment to obesity.
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- British Medical Bulletin, 2017, v. 123, n. 1, p. 159, doi. 10.1093/bmb/ldx022
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- Article
Motor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive Review.
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- Frontiers in Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fnins.2016.00572
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- Article
Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease.
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- 2015
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- Publication type:
- journal article
Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective.
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- Molecular Genetics & Genomics, 2015, v. 290, n. 4, p. 1191, doi. 10.1007/s00438-015-1015-9
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- Article
Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice.
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- 2015
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- Journal Article
Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice.
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- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 320
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- Article
RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease.
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- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0100086
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- Article
Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 307, doi. 10.1038/jhg.2014.23
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- Article
Novel Variants in the MC4R and LEPR Genes among Severely Obese Children from the Iberian Population.
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- Annals of Human Genetics, 2014, v. 78, n. 3, p. 195, doi. 10.1111/ahg.12058
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- Article
Overexpression of Mutant Ataxin-3 in Mouse Cerebellum Induces Ataxia and Cerebellar Neuropathology.
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- Cerebellum, 2013, v. 12, n. 4, p. 441, doi. 10.1007/s12311-012-0432-0
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- Article
Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado–Joseph disease.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. 2173, doi. 10.1093/brain/awt144
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- Article
Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado-Joseph disease.
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- 2013
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- Publication type:
- journal article
The lactase persistence -13910C>T polymorphism shows indication of association with abdominal obesity among Portuguese children.
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- Acta Paediatrica, 2013, v. 102, n. 4, p. e153, doi. 10.1111/apa.12134
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- Article
The lactase persistence -13910C<GT>T polymorphism shows indication of association with abdominal obesity among Portuguese children.
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- 2013
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- Publication type:
- Journal Article
MicroRNA-21 silencing enhances the cytotoxic effect of the antiangiogenic drug sunitinib in glioblastoma.
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- Human Molecular Genetics, 2013, v. 22, n. 5, p. 904, doi. 10.1093/hmg/dds496
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- Article
Association of FTO Polymorphisms with Obesity and Obesity-Related Outcomes in Portuguese Children.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054370
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- Article
Silencing Mutant Ataxin-3 Rescues Motor Deficits and Neuropathology in Machado-Joseph Disease Transgenic Mice.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0052396
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- Article
Assessment of Obesity and Abdominal Obesity among Portuguese Children.
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- Acta Médica Portuguesa, 2012, v. 25, n. 3, p. 169, doi. 10.20344/amp.45
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- Article
Silencing ataxin-3 mitigates degeneration in a rat model of Machado–Joseph disease: no role for wild-type ataxin-3?
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- Human Molecular Genetics, 2010, v. 19, n. 12, p. 2380, doi. 10.1093/hmg/ddq111
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- Article
Genetic Exchange versus Genetic Differentiation in a Medium-Sized Inversion of Drosophila: The A<sub>2</sub>/A<sub>st</sub> Arrangements of Drosophila subobscura.
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- Molecular Biology & Evolution, 2008, v. 25, n. 8, p. 1534, doi. 10.1093/molbev/msn100
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- Article