Gene Therapy
Viral Vectors
Stem Cells
Neurodegenerative Diseases
Machado-Joseph Disease
Models of disease
Mechanism driven therapies
Stem cell transplantation
Gene silencing
Disease biomarkers research in patients
Information about journal articles, updated at 26-03-2023, from platform CIÊNCIAVITAE.
Using genetically modified extracellular vesicles as a non-invasive strategy to evaluate brain-specific cargo
Rufino-Ramos, D.; Lule, S.; Mahjoum, S.; Ughetto, S.; Cristopher Bragg, D.; Pereira de Almeida, L.; Breakefield, X.O.; Breyne, K., 2022. Biomaterials. 281. 2022. http://www.scopus.com/inward/record.url?eid=2-s2.0-85122652441&partnerID=MN8TOARS . 10.1016/j.biomaterials.2022.121366 . Biomaterials
ULK overexpression mitigates motor deficits and neuropathology in mouse models of Machado-Joseph disease
Vasconcelos-Ferreira, A.; Martins, I.M.; Lobo, D.; Pereira, D.; Lopes, M.M.; Faro, R.; Lopes, S.M.; et al, 2022. Molecular Therapy. 370 - 387. 1. 30. 2022. http://www.scopus.com/inward/record.url?eid=2-s2.0-85115030983&partnerID=MN8TOARS . 10.1016/j.ymthe.2021.07.012 . Molecular Therapy
The autophagy-enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado–Joseph disease
Ana Vasconcelos-Ferreira; Sara Carmo-Silva; José Miguel Codêsso; Patrick Silva; Alberto Rolim Muro Martinez; Marcondes Cavalcante França Jr; Clévio Nóbrega; et al, 2022. Neuropathology and Applied Neurobiology. 2022. https://doi.org/10.1111/nan.12763 . 10.1111/nan.12763 . Neuropathology and Applied Neurobiology
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity
Holger Hengel; Peter Martus; Jennifer Faber; Hector Garcia-Moreno; Nita Solanky; Paola Giunti; Thomas Klockgether; et al, 2022. Movement Disorders. 2022. https://doi.org/10.1002/mds.28844 . 10.1002/mds.28844 . Movement Disorders
Identification of the calpain-generated toxic fragment of ataxin-3 protein provides new avenues for therapy of Machado–Joseph disease| Spinocerebellar ataxia type 3
Ana Teresa Simões; Vítor Carmona; Joana Duarte-Neves; Janete Cunha-Santos; Luís Pereira de Almeida, 2022. Neuropathology and Applied Neurobiology. 2022. https://doi.org/10.1111/nan.12748 . 10.1111/nan.12748 . Neuropathology and Applied Neurobiology
Living Proof of Activity of Extracellular Vesicles in the Central Nervous System
Shadi Mahjoum; David Rufino-Ramos; Luís Pereira de Almeida; Marike L. D. Broekman; Xandra O. Breakefield; Thomas S. van Solinge; Mahjoum, Shadi; et al, 2021. International Journal of Molecular Sciences. 7294 - 7294. 14. 22. 2021. https://doi.org/10.3390/ijms22147294 . 10.3390/ijms22147294 . International Journal of Molecular Sciences
Mesenchymal stromal cells to fight SARS-CoV-2: Taking advantage of a pleiotropic therapy
Barros, I.; Silva, A.; de Almeida, L.P.; Miranda, C.O., 2021. Cytokine and Growth Factor Reviews. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85098642605&partnerID=MN8TOARS . 10.1016/j.cytogfr.2020.12.002 . Cytokine and Growth Factor Reviews
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
Klionsky, D.J.; Abdel-Aziz, A.K.; Abdelfatah, S.; Abdellatif, M.; Abdoli, A.; Abel, S.; Abeliovich, H.; et al, 2021. Autophagy. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85102619204&partnerID=MN8TOARS . 10.1080/15548627.2020.1797280 . Autophagy
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood
Hübener-Schmid, J.; Kuhlbrodt, K.; Peladan, J.; Faber, J.; Santana, M.M.; Hengel, H.; Jacobi, H.; et al, 2021. Movement Disorders. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85113149446&partnerID=MN8TOARS . 10.1002/mds.28749 . Movement Disorders
Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy
Marcelo, A.; Afonso, I.T.; Afonso-Reis, R.; Brito, D.V.C.; Costa, R.G.; Rosa, A.; Alves-Cruzeiro, J.; et al, 2021. Cell Death and Disease. 8 - 28. 12. 12. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85120082938&partnerID=MN8TOARS . 10.1038/s41419-021-04404-1 . Cell Death and Disease
The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1
Walter, J.; Bolognin, S.; Poovathingal, S.K.; Magni, S.; Gérard, D.; Antony, P.M.A.; Nickels, S.L.; et al, 2021. Cell Reports. 3. 37. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85117275453&partnerID=MN8TOARS . 10.1016/j.celrep.2021.109864 . Cell Reports
Highly specific blood-brain barrier transmigrating single-domain antibodies selected by an in vivo phage display screening
Aguiar, S.I.; Dias, J.N.R.; André, A.S.; Silva, M.L.; Martins, D.; Carrapiço, B.; Castanho, M.; et al, 2021. Pharmaceutics. 10. 13. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85116780736&partnerID=MN8TOARS . 10.3390/pharmaceutics13101598 . Pharmaceutics
Extracellular vesicles physiological role and the particular case of disease-spreading mechanisms in polyglutamine diseases
Moreira, R.; Mendonça, L.S.; de Almeida, L.P., 2021. International Journal of Molecular Sciences. 22. 22. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85118955937&partnerID=MN8TOARS . 10.3390/ijms222212288 . International Journal of Molecular Sciences
Stress granules, RNA-binding proteins and polyglutamine diseases: too much aggregation?
Marcelo, A.; Koppenol, R.; de Almeida, L.P.; Matos, C.A.; Nóbrega, C., 2021. Cell Death and Disease. 6. 12. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85107594482&partnerID=MN8TOARS . 10.1038/s41419-021-03873-8 . Cell Death and Disease
Highly Porous Composite Scaffolds Endowed with Antibacterial Activity for Multifunctional Grafts in Bone Repair
Ana S. Neto; Patrícia Pereira; Ana C. Fonseca; Carla Dias; Mariana C. Almeida; Inês Barros; Catarina O. Miranda; et al, 2021. Polymers. 2021. https://doi.org/10.3390/polym13244378 . 10.3390/polym13244378 . Polymers
Neuropeptide Y (NPY) intranasal delivery alleviates Machado–Joseph disease
Duarte-Neves, J.; Cavadas, C.; Pereira de Almeida, L., 2021. Scientific Reports. 1. 11. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85100703911&partnerID=MN8TOARS . 10.1038/s41598-021-82339-5 . Scientific Reports
miRNA-31 Improves Cognition and Abolishes Amyloid-ß Pathology by Targeting APP and BACE1 in an Animal Model of Alzheimer’s Disease
Barros-Viegas, Ana Teresa; Carmona, Vítor; Ferreiro, Elisabete; Guedes, Joana; Cardoso, Ana Maria; Cunha, Pedro; Pereira de Almeida, Luís; et al, 2020. Molecular Therapy - Nucleic Acids. 1219 - 1236. 19. 2020. http://dx.doi.org/10.1016/j.omtn.2020.01.010 . 10.1016/j.omtn.2020.01.010 . Molecular Therapy - Nucleic Acids
Protocol for the Characterization of the CAG Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies
Lopes, Sara Monteiro; Faro, Rosário; Lopes, Miguel Monteiro; Onofre, Isabel; Mendonça, Nuno; Ribeiro, Joana; Januário, Cristina; Nobre, Rui Jorge; Pereira de Almeida, Luís, 2020. The Journal of Molecular Diagnostics. 2020. http://dx.doi.org/10.1016/j.jmoldx.2020.03.003 . 10.1016/j.jmoldx.2020.03.003 . The Journal of Molecular Diagnostics
The blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples
Diana Duarte Lobo; Rui Jorge Nobre; Catarina Oliveira Miranda; Dina Pereira; João Castelhano; José Sereno; Arnulf Koeppen; Miguel Castelo-Branco; Luís Pereira de Almeida, 2020. Acta Neuropathologica Communications. 2020. https://doi.org/10.1186/s40478-020-00955-0 . 10.1186/s40478-020-00955-0 . Acta Neuropathologica Communications
Simple and Fast SEC-Based Protocol to Isolate Human Plasma-Derived Extracellular Vesicles for Transcriptional Research
Laetitia S. Gaspar; Magda M. Santana; Carina Henriques; Maria M. Pinto; Teresa M. Ribeiro-Rodrigues; Henrique Girão; Rui Jorge Nobre; Luís Pereira de Almeida, 2020. Molecular Therapy - Methods & Clinical Development. 2020. https://doi.org/10.1016/j.omtm.2020.07.012 . 10.1016/j.omtm.2020.07.012 . Molecular Therapy - Methods & Clinical Development
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
Wilke, C.; Haas, E.; Reetz, K.; Faber, J.; Garcia-Moreno, H.; Santana, M.M.; van de Warrenburg, B.; et al, 2020. EMBO Molecular Medicine. 7. 12. 2020. http://www.scopus.com/inward/record.url?eid=2-s2.0-85086096828&partnerID=MN8TOARS . 10.15252/emmm.201911803 . EMBO Molecular Medicine
Mesenchymal Stromal Cells’ Therapy for Polyglutamine Disorders: Where Do We Stand and Where Should We Go?
Barros, I.; Marcelo, A.; Silva, T.P.; Barata, J.; Rufino-Ramos, D.; Pereira de Almeida, L.; Miranda, C.O., 2020. Frontiers in Cellular Neuroscience. 14. 2020. http://www.scopus.com/inward/record.url?eid=2-s2.0-85093862610&partnerID=MN8TOARS . 10.3389/fncel.2020.584277 . Frontiers in Cellular Neuroscience
Mitochondrial and Redox Modifications in Huntington Disease Induced Pluripotent Stem Cells Rescued by CRISPR/Cas9 CAGs Targeting
Lopes, C.; Tang, Y.; Anjo, S.I.; Manadas, B.; Onofre, I.; de Almeida, L.P.; Daley, G.Q.; Schlaeger, T.M.; Rego, A.C.C., 2020. Frontiers in Cell and Developmental Biology. 8. 2020. http://www.scopus.com/inward/record.url?eid=2-s2.0-85092059116&partnerID=MN8TOARS . 10.3389/fcell.2020.576592 . Frontiers in Cell and Developmental Biology
Trehalose alleviates the phenotype of Machado–Joseph disease mouse models
Santana, Magda M.; Paixão, Susana; Cunha-Santos, Janete; Silva, Teresa Pereira; Trevino-Garcia, Allyson; Gaspar, Laetitia S.; Nóbrega, Clévio; et al, 2020. Journal of Translational Medicine. 1. 18. 2020. http://dx.doi.org/10.1186/s12967-020-02302-2 . 10.1186/s12967-020-02302-2 . Journal of Translational Medicine
Neuropeptide Y Enhances Progerin Clearance and Ameliorates the Senescent Phenotype of Human Hutchinson-Gilford Progeria Syndrome Cells
Aveleira, Célia A; Ferreira-Marques, Marisa; Cortes, Luísa; Valero, Jorge; Pereira, Dina; Pereira de Almeida, Luís; Cavadas, Cláudia, 2020. The Journals of Gerontology: Series A. 2020. http://dx.doi.org/10.1093/gerona/glz280 . 10.1093/gerona/glz280 . The Journals of Gerontology: Series A
Ibuprofen enhances synaptic function and neural progenitors proliferation markers and improves neuropathology and motor coordination in Machado-Joseph disease models
Liliana S Mendonça; Clévio Nóbrega; Silvia Tavino; Maximilian Brinkhaus; Carlos Matos; Sandra Tomé; Ricardo Moreira; et al, 2019. Human Molecular Genetics. 2019. https://doi.org/10.1093/hmg/ddz097 . 10.1093/hmg/ddz097 . Human Molecular Genetics
Antisense oligonucleotide therapeutics in neurodegenerative diseases: the case of polyglutamine disorders
Ana C Silva; Diana D Lobo; Inês M Martins; Sara M Lopes; Carina Henriques; Sónia P Duarte; Jean-Cosme Dodart; Rui Jorge Nobre; Luis Pereira de Almeida, 2019. Brain. 2019. https://doi.org/10.1093/brain/awz328 . 10.1093/brain/awz328 . Brain
Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia
Nóbrega, Clévio; Mendonca, Liliana; Marcelo, Adriana; Lamaziere, Antonin; Tome, Sandra; Despres, Gaetan; Matos, Carlos A; et al, 2019. Acta Neuropathologica. 2019. http://hdl.handle.net/10400.1/14197 . 10.1007/s00401-019-02019-7 . Acta Neuropathologica
Neural Stem Cells of Parkinson's Disease Patients Exhibit Aberrant Mitochondrial Morphology and Functionality.
Almeida, Luis, 2019. Stem cell reports. 2019. http://europepmc.org/articles/PMC6522948 . 10.1016/j.stemcr.2019.03.004 . Stem cell reports
RNA interference therapy for Machado-Joseph disease: Long-term safety profile of lentiviral vectors encoding short hairpin RNAs targeting mutant ataxin-3
Nóbrega, Clévio; Codesso, Jose Miguel; Mendonca, Liliana; de Almeida, Luis Pereira, 2019. 2019. http://hdl.handle.net/10400.1/14340 . 10.1089/hum.2018.157 .
Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado-Joseph disease models
Marcelo, Adriana; Brito, Filipa; Carmo-Silva, Sara; Matos, Carlos A.; Alves-Cruzeiro, Joao; Vasconcelos-Ferreira, Ana; Koppenol, Rebekah; et al, 2019. Human molecular genetics. 51 - 63. 1. 28. 2019. http://hdl.handle.net/10400.1/14482 . 10.1093/hmg/ddy328 . Human molecular genetics
Successes and Hurdles in Stem Cells Application and Production for Brain Transplantation
Henriques, Daniel; Moreira, Ricardo; Schwamborn, Jens; Pereira de Almeida, Luís; Mendonça, Liliana S., 2019. Frontiers in Neuroscience. 13. 2019. http://dx.doi.org/10.3389/fnins.2019.01194 . 10.3389/fnins.2019.01194 . Frontiers in Neuroscience
RNA Interference Therapy for Machado-Joseph Disease: Long-Term Safety Profile of Lentiviral Vectors Encoding Short Hairpin RNAs Targeting Mutant Ataxin-3.
Almeida, Luis, 2019. Human gene therapy. 2019. https://doi.org/10.1089/hum.2018.157 . 10.1089/hum.2018.157 . Human gene therapy
Repeated Mesenchymal Stromal Cell Treatment Sustainably Alleviates Machado-Joseph Disease
Oliveira Miranda, C.; Marcelo, A.; Silva, T.P.; Barata, J.; Vasconcelos-Ferreira, A.; Pereira, D.; Nóbrega, C.; et al, 2018. Molecular Therapy. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85050950218&partnerID=MN8TOARS . 10.1016/j.ymthe.2018.07.007 . Molecular Therapy
Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs
Pólvora-Brandão, D.; Joaquim, M.; Godinho, I.; Aprile, D.; Álvaro, A.R.; Onofre, I.; Raposo, A.C.; et al, 2018. Human molecular genetics. 3999 - 4011. 23. 27. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85056694837&partnerID=MN8TOARS . 10.1093/hmg/ddy274 . Human molecular genetics
Dipeptidyl peptidase IV (DPP-IV) inhibition prevents fibrosis in adipose tissue of obese mice
Marques, A.P.; Cunha-Santos, J.; Leal, H.; Sousa-Ferreira, L.; Pereira de Almeida, L.; Cavadas, C.; Rosmaninho-Salgado, J., 2018. Biochimica et Biophysica Acta - General Subjects. 403 - 413. 3. 1862. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85037668547&partnerID=MN8TOARS . 10.1016/j.bbagen.2017.11.012 . Biochimica et Biophysica Acta - General Subjects
Stroma-derived IL-6, G-CSF and Activin-A mediated dedifferentiation of lung carcinoma cells into cancer stem cells
Rodrigues, C.F.D.; Serrano, E.; Patrício, M.I.; Val, M.M.; Albuquerque, P.; Fonseca, J.; Gomes, C.M.F.; et al, 2018. Scientific Reports. 1. 8. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85050990420&partnerID=MN8TOARS . 10.1038/s41598-018-29947-w . Scientific Reports
Control of Huntington's Disease-Associated Phenotypes by the Striatum-Enriched Transcription Factor Foxp2
Hachigian, L.J.; Carmona, V.; Fenster, R.J.; Kulicke, R.; Heilbut, A.; Sittler, A.; Pereira de Almeida, L.; et al, 2017. Cell Reports. 2688 - 2695. 10. 21. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85038085324&partnerID=MN8TOARS . 10.1016/j.celrep.2017.11.018 . Cell Reports
Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
Cristo, F.; Inácio, J.M.; Rosas, G.; Carreira, I.M.; Melo, J.B.; de Almeida, L.P.; Mendes, P.; et al, 2017. Stem Cell Research. 152 - 156. 25. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85033403571&partnerID=MN8TOARS . 10.1016/j.scr.2017.10.019 . Stem Cell Research
Extracellular vesicles: Novel promising delivery systems for therapy of brain diseases
Rufino-Ramos, D.; Albuquerque, P.R.; Carmona, V.; Perfeito, R.; Nobre, R.J.; Pereira de Almeida, L., 2017. Journal of Controlled Release. 247 - 258. 262. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85026758579&partnerID=MN8TOARS . 10.1016/j.jconrel.2017.07.001 . Journal of Controlled Release
Caffeine alleviates progressive motor deficits in a transgenic mouse model of spinocerebellar ataxia
Gonçalves, N.; Simões, A.T.; Prediger, R.D.; Hirai, H.; Cunha, R.A.; Pereira de Almeida, L., 2017. Annals of Neurology. 407 - 418. 3. 81. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85013441188&partnerID=MN8TOARS . 10.1002/ana.24867 . Annals of Neurology
Proteolytic cleavage of polyglutamine disease-causing proteins: Revisiting the toxic fragment hypothesis
Matos, C.A.; de Almeida, L.P.; Nóbrega, C., 2017. Current Pharmaceutical Design. 753 - 775. 5. 23. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85017122161&partnerID=MN8TOARS . 10.2174/1381612822666161227121912 . Current Pharmaceutical Design
5 42 out of 42 Publications
MicroRNA-specific small molecule modifiers as a new and promising therapeutic approach for Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3)
(Less)PlasticBrain: Bio Replacing Plasticizers – Impact in the Human Brain Development
2022-05-03
Direct Conversion of Astrocytes into Cerebellar Neurons as an Innovative Treatment for Spinocerebellar Ataxia Type-3
2023-01-01
Intravenous delivery of the brain-targeting AAV-PHPeB encoding the cholesterol hydroxylase CYP46A1 into a mouse model of spinocerebellar ataxia type 3: a promising non-invasive therapeutic strategy
2020-03-01
Role of microRNA deregulation in Machado-Joseph Disease: On the development of a microRNA-based therapeutic strategy
2018-07-06
Methods to the diagnosis and prognosis of Machado-Joseph Disease
Optimized oligonucleotide sequences for PCR-based diagnostic of the genetic etiology of Machado-Joseph Disorder (MJD), the CAG trinucleotide expansion within ATXN3 gene: a) length of the expansion and b) single-nucleotide polymorphisms (SNPs) associated with the mutant allele. This method will allow the diagnosis and progression prediction of this disorder, as well as the design of specific gene therapy strategies. Optimized oligonucleotides and probes to measure expression of mutant mRNA in Machado-Joseph Disorder to complement the genetic diagnosis and to evaluate the potential of gene-based therapies such as gene editing or silencing
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