Results 121 to 130 of about 9,929 (238)

Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (ATXN3) [PDF]

, 2012
Machado–Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)n expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset
AE Kel, C Bettencourt, C Bettencourt, C Bettencourt, C Bettencourt, C Bettencourt, Conceição Bettencourt, Cristina Santos, D Goti, DR Carvalho, G Sobue, G Sutherland, I Lerer, I Schmitt, J Bilen, J Theuns, JH Friedman, Jorge Sequeiros, João Vasconcelos, Jácome Bruges-Armas, Karina C. Donis, Laura B. Jardim, M Carmo Costa do, Mafalda Raposo, Manuela Lima, Maria Luiza Saraiva-Pereira, Nadiya Kazachkova, NS Wexler, P Maciel, P Maciel, Patrícia Maciel, R Coles, S Chatterjee, T Tsunoda, TA Hall, Teresa Kay, X Wang, Y Ichikawa, Y Kawaguchi   +38 more
core   +1 more source

Allosteric Modulation of Pathological Ataxin‐3 Aggregation: A Path to Spinocerebellar Ataxia Type‐3 Therapies (Adv. Sci. 11/2026)

Advanced Science, Volume 13, Issue 11, 23 February 2026.
Spinocerebellar Ataxia Type‐3 Therapies The molecular tweezer CLR01 binds an allosteric site on the Josephin domain of ataxin‐3, reducing conformational flexibility and limiting motions that expose the aggregation‐prone region. Concentric circles evoke the ripple of allosteric modulation extending across biological scales, delaying amyloid formation ...
Alexandra Silva, Sara Duarte‐Silva, Pedro M. Martins, Beatriz Rodrigues, Débora Serrenho, Daniela Vilasboas‐Campos, Andreia Teixeira‐Castro, Julio Vieyto‐Nuñez, Joel Mieres‐Perez, Francisco Figueiredo, Martyna Podlasiak, Tatiana Van‐der‐Kellen, Joana Fraga, James Noble, Carter Lantz, Niki Sepanj, Daniela Monteiro‐Fernandes, Sara Guerreiro, Andreia Neves‐Carvalho, Joana Pereira‐Sousa, Frank‐Gerrit Klärner, Thomas Schrader, Joseph A. Loo, Annalisa Pastore, Elsa Sanchez‐Garcia, Gal Bitan, Ana Luísa Carvalho, Patrícia Maciel, Sandra Macedo‐Ribeiro   +28 more
wiley   +1 more source

Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7)

Neurobiology of Disease, 2011
In spinocerebellar ataxia-7 (SCA7), a polyglutamine (polyQ) expansion in the ataxin-7 protein leads to the formation of neuronal intranuclear inclusions (NIIs) and neurodegeneration.
Junko Takahashi-Fujigasaki, Tilo Breidert, Hiroto Fujigasaki, Charles Duyckaerts, Jacques H. Camonis, Alexis Brice, Anne-Sophie Lebre   +6 more
doaj   +1 more source

The blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples

Acta Neuropathologica Communications, 2020
Blood-brain barrier (BBB) disruption is a common feature in neurodegenerative diseases. However, BBB integrity has not been assessed in spinocerebellar ataxias (SCAs) such as Machado-Joseph disease/SCA type 3 (MJD/SCA3), a genetic disorder, triggered by ...
Diana Duarte Lobo, Rui Jorge Nobre, Catarina Oliveira Miranda, Dina Pereira, João Castelhano, José Sereno, Arnulf Koeppen, Miguel Castelo-Branco, Luís Pereira de Almeida   +8 more
doaj   +1 more source

The ubiquitin-proteasome pathway in Huntington's disease. [PDF]

, 2008
The accumulation of mutant protein is a common feature of neurodegenerative disease. In Huntington's disease, a polyglutamine expansion in the huntingtin protein triggers neuronal toxicity.
Finkbeiner, Steven, Mitra, Siddhartha
core   +2 more sources

Orexin Receptor Antagonism Improves Sleep Quality and Mitigates Lipopolysaccharide‐Induced Inflammatory Responses in a Mouse Model

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
Inhibiting orexin improves sleep quality and mitigates inflammation of LPS‐induced mice. ABSTRACT Alterations in the immune system, stemming from sleep/wakefulness disorders, increase the risk of inflammatory pathologies. Orexin, a hypothalamic neuropeptide, regulates sleep and wakefulness.
Dai Horiuchi, Yoko Irukayama‐Tomobe, Jun‐Dal Kim, Yoshitoshi Kasuya, Tsuyoshi Nemoto, Takuji Suzuki, Yoshimi Nakagawa, Koichiro Tatsumi   +7 more
wiley   +1 more source

The ubiquitin E3/E4 ligase, UBE4A, fine-tunes protein ubiquitylation and accumulation at sites of DNA damage facilitating double-strand break repair [PDF]

, 2018
Double-strand breaks (DSBs) are critical DNA lesions that robustly activate the elaborate DNA damage response (DDR) network. We identified a critical player in DDR fine-tuning - the E3/E4 ubiquitin ligase, UBE4A.
Baranes Bachar, Keren, Huertas Sánchez, Pablo, Levy Barda, Adva, Oehler, Judith, Soria Bretones, Isabel   +4 more
core   +1 more source

Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease [PDF]

, 2013
BACKGROUND: Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia caused by a CAG tract expansions in the ATXN3 gene. Patterns of mitochondrial damage associated with pathological findings of brain tissues could provide molecular
Bettencourt, Conceição, Cymbron, Teresa, Fernandes, Anabela Silva, Kazachkova, Nadiya, Lima, Manuela, Maciel, P., Montiel, Rafael, Raposo, Mafalda, Silva, Sara Carina Duarte   +8 more
core   +1 more source

Ectoine alters subcellular localization of inclusions and reduces apoptotic cell death induced by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch [PDF]

, 2006
Thesis (Ph. D. in Medical Sciences)--University of Tsukuba, (A), no. 4083, 2006.3.24Joint authors: Toshihiro Yoshizawa ... et alOffprint. Originally published in: Neurobiology of disease, v. 20, pp.
古庄 健太郎
core  

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source