Gene and Stem Cell Therapies for the Brain

Gene Therapy

Viral Vectors

Stem Cells

Neurodegenerative Diseases

Machado-Joseph Disease

Research lines

Models of disease

Mechanism driven therapies

Stem cell transplantation

Gene silencing

Disease biomarkers research in patients


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Information about journal articles, updated at 27-11-2022, 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 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. . 10.2174/1381612822666161227121912 . Current Pharmaceutical Design


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