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Select item 105719821.

Mitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado–Joseph Disease

Filipa Almeida, Ildete L. Ferreira, Luana Naia, Daniela Marinho, Ana Catarina Vilaça-Ferreira, Marta D. Costa, Sara Duarte-Silva, Patrícia Maciel, A. Cristina Rego

Cells. 2023 Oct; 12(19): 2397. Published online 2023 Oct 3. doi: 10.3390/cells12192397

PMCID:: PMC10571982

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Select item 102356402.

Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease

Priscila Pereira Sena, Jonasz Jeremiasz Weber, Sercan Bayezit, Rafael Saup, Rana Dilara Incebacak Eltemur, Xiaoling Li, Ana Velic, Jaqueline Jung, Boris Macek, Huu Phuc Nguyen, Olaf Riess, Thorsten Schmidt

Front Mol Neurosci. 2023; 16: 1133271. Published online 2023 May 19. doi: 10.3389/fnmol.2023.1133271

PMCID:: PMC10235640

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Select item 102167953.

Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease

Ana F. Ferreira, Mafalda Raposo, Emily D. Shaw, Naila S. Ashraf, Filipa Medeiros, Maria de Fátima Brilhante, Matthew Perkins, João Vasconcelos, Teresa Kay, Maria do Carmo Costa, Manuela Lima

Cells. 2023 May; 12(10): 1404. Published online 2023 May 17. doi: 10.3390/cells12101404

PMCID:: PMC10216795

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Select item 99537304.

The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research

Manuela Lima, Mafalda Raposo, Ana Ferreira, Ana Rosa Vieira Melo, Sara Pavão, Filipa Medeiros, Luís Teves, Carlos Gonzalez, João Lemos, Paula Pires, Pedro Lopes, David Valverde, José Gonzalez, Teresa Kay, João Vasconcelos

Biomedicines. 2023 Feb; 11(2): 247. Published online 2023 Jan 18. doi: 10.3390/biomedicines11020247

PMCID:: PMC9953730

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Select item 96723905.

Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3)

Jeannette Y. Stallworth, Nailyn Rasool, Maanasa Indaram

Am J Ophthalmol Case Rep. 2022 Dec; 28: 101754. Published online 2022 Nov 12. doi: 10.1016/j.ajoc.2022.101754

PMCID:: PMC9672390

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Select item 92947696.

Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal

Daniela Couto, Liliana Sousa, Jorge Sequeiros, Manuela Lima, Álvaro Mendes

J Community Genet. 2022 Aug; 13(4): 459–461. Published online 2022 Jul 18. doi: 10.1007/s12687-022-00602-2

PMCID:: PMC9294769

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Select item 92595337.

KPNB1 modulates the Machado–Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP

Mahkameh Abeditashi, Jonasz Jeremiasz Weber, Priscila Pereira Sena, Ana Velic, Maria Kalimeri, Rana Dilara Incebacak Eltemur, Jana Schmidt, Jeannette Hübener-Schmid, Stefan Hauser, Boris Macek, Olaf Riess, Thorsten Schmidt

Cell Mol Life Sci. 2022; 79(8): 401. Published online 2022 Jul 6. doi: 10.1007/s00018-022-04372-5

PMCID:: PMC9259533

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Select item 90627578.

Sleep disorders among Aboriginal Australians with Machado-Joseph Disease: Quantitative results from a multiple methods study to assess the experience of people living with the disease and their caregivers

Desireé LaGrappe, Libby Massey, Anuk Kruavit, Timothy Howarth, Gayangwa Lalara, Bronwyn Daniels, Julie Gungunbuy Wunungmurra, Kimberley Flavell, Ruth Barker, Howard Flavell, Subash S. Heraganahally

Neurobiol Sleep Circadian Rhythms. 2022 May; 12: 100075. Published online 2022 Apr 22. doi: 10.1016/j.nbscr.2022.100075

PMCID:: PMC9062757

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Select item 89337669.

Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease

Catarina Oliveira Miranda, Rui Jorge Nobre, Vitor Hugo Paiva, João Valente Duarte, João Castelhano, Lorena Itatí Petrella, José Sereno, Magda Santana, Sónia Afonso, Cristina Januário, Miguel Castelo-Branco, Luís Pereira de Almeida

Acta Neuropathol Commun. 2022; 10: 37. Published online 2022 Mar 19. doi: 10.1186/s40478-022-01329-4

PMCID:: PMC8933766

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Select item 886940410.

Profiling Microglia in a Mouse Model of Machado–Joseph Disease

Ana Bela Campos, Sara Duarte-Silva, Bruno Fernandes, Sofia Pereira das Neves, Fernanda Marques, Andreia Teixeira-Castro, Andreia Neves-Carvalho, Daniela Monteiro-Fernandes, Camila Cabral Portugal, Renato Socodato, Teresa Summavielle, António Francisco Ambrósio, João Bettencourt Relvas, Patrícia Maciel

Biomedicines. 2022 Feb; 10(2): 237. Published online 2022 Jan 23. doi: 10.3390/biomedicines10020237

PMCID:: PMC8869404

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Select item 885141511.

A Variant in Genes of the NPY System as Modifier Factor of Machado-Joseph Disease in the Chinese Population

Dongxue Ding, Zhao Chen, Chunrong Wang, Xiang Tang, Lulu Zhang, Qi Fang, Rong Qiu, Hong Jiang

Front Aging Neurosci. 2022; 14: 822657. Published online 2022 Feb 3. doi: 10.3389/fnagi.2022.822657

PMCID:: PMC8851415

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Select item 813424012.

Linear T2 Hyperintensity along the Medial Margin of the Globus Pallidus in Patients with Machado-Joseph Disease and Parkinson Disease, and in Healthy Subjects

W. Shirai, S. Ito, T. Hattori

AJNR Am J Neuroradiol. 2007 Nov; 28(10): 1993–1995. doi: 10.3174/ajnr.A0705

PMCID:: PMC8134240

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Select item 786445713.

Staying Strong Toolbox: Co-design of a physical activity and lifestyle program for Aboriginal families with Machado-Joseph disease in the Top End of Australia

Jennifer J. Carr, Joyce Lalara, Gayangwa Lalara, Gwen Lalara, Bronwyn Daniels, Alan R. Clough, Anne Lowell, Ruth N. Barker

PLoS One. 2021; 16(2): e0244311. Published online 2021 Feb 5. doi: 10.1371/journal.pone.0244311

PMCID:: PMC7864457

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Select item 750787214.

Familial spontaneous pneumothorax and Machado–Joseph disease

Jerald Pelayo, Naraharisetty Rau, Kevin Bryan Lo, Zurab Azmaiparashvili

Oxf Med Case Reports. 2020 Sep; 2020(9): omaa078. Published online 2020 Sep 22. doi: 10.1093/omcr/omaa078

PMCID:: PMC7507872

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Select item 745750615.

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

Acta Neuropathol Commun. 2020; 8: 152. Published online 2020 Aug 31. doi: 10.1186/s40478-020-00955-0

PMCID:: PMC7457506

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Select item 724682216.

Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado–Joseph Disease through Integration of Pathological Biomarkers and Therapeutic Strategies

Yu-Shuan Chen, Zhen-Xiang Hong, Shinn-Zong Lin, Horng-Jyh Harn

Int J Mol Sci. 2020 May; 21(9): 3063. Published online 2020 Apr 26. doi: 10.3390/ijms21093063

PMCID:: PMC7246822

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Select item 713854917.

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Fulya Akçimen, Sandra Martins, Calwing Liao, Cynthia V. Bourassa, Hélène Catoire, Garth A. Nicholson, Olaf Riess, Mafalda Raposo, Marcondes C. França, João Vasconcelos, Manuela Lima, Iscia Lopes-Cendes, Maria Luiza Saraiva-Pereira, Laura B. Jardim, Jorge Sequeiros, Patrick A. Dion, Guy A. Rouleau

Aging (Albany NY) 2020 Mar 31; 12(6): 4742–4756. Published online 2020 Mar 23. doi: 10.18632/aging.102825

PMCID:: PMC7138549

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Select item 711136418.

Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy

Susana Lêdo, Ângela Leite, Teresa Souto, Maria A. Dinis, Jorge Sequeiros

Braz J Psychiatry. 2016; 38(2): 113–120. Published online 2016 Feb 5. doi: 10.1590/1516-4446-2014-1617

PMCID:: PMC7111364

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Select item 697471519.

The Machado–Joseph disease deubiquitylase ataxin‐3 interacts with LC3C/GABARAP and promotes autophagy

Laura K. Herzog, Éva Kevei, Ricardo Marchante, Claudia Böttcher, Christian Bindesbøll, Alf Håkon Lystad, Annika Pfeiffer, Maria E. Gierisch, Florian A. Salomons, Anne Simonsen, Thorsten Hoppe, Nico P. Dantuma

Aging Cell. 2020 Jan; 19(1): e13051. Published online 2019 Oct 17. doi: 10.1111/acel.13051