Results 51 to 60 of about 6,741 (226)

Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease. [PDF]

PLoS ONE, 2008
Recent studies have demonstrated that RNAi is a promising approach for treating autosomal dominant disorders. However, discrimination between wild-type and mutant transcripts is essential, to preserve wild-type expression and function.
Sandro Alves, Isabel Nascimento-Ferreira, Gwennaëlle Auregan, Raymonde Hassig, Noëlle Dufour, Emmanuel Brouillet, Maria C Pedroso de Lima, Philippe Hantraye, Luís Pereira de Almeida, Nicole Déglon   +9 more
doaj   +1 more source

Feasibility and impact of a physical activity and lifestyle program for Aboriginal families with Machado-Joseph disease in the Top End of Australia

Rural and Remote Health
Introduction: Physical activity and lifestyle programs are scarce for people with hereditary ataxias and neurodegenerative diseases. Aboriginal families in the Top End of Australia who have lived with Machado-Joseph disease (MJD) for generations co ...
Jennifer Carr, Joyce Lalara, Gayangwa Lalara, Gwen Lalara, Bronwyn Daniels, Alan Clough, Anne Lowell, Ruth Barker   +7 more
doaj   +1 more source

Evaluation of emission indices and air quality implications of liquefied petroleum gas burners

Heliyon, 2020
Major cities in Nigeria has adopted the use of liquefied petroleum gas (LPG) as their main source for domestic cooking, however, this adoption led to different designs of LPG burners in Nigeria market.
Daniel Olawale Oke, Bamidele Sunday Fakinle, Jacob Ademola Sonibare, Funso Alaba Akeredolu   +3 more
doaj   +1 more source

Characterization of DUB-deficient MJD variants.

, 2013
(A) Driven by 1×gr-GAL4 at d7, MJD with non-expanded Q has no toxicity. Loss of DUB activity through point mutation, MJD-Q27-C14A, or through exon deletion, MJD-Q27-Δexon2, did not confer toxicity.
James Shorter (42154), Mimi Cushman-Nick (454359), Nancy M. Bonini (227332)   +2 more
core   +1 more source

Análise quantitativa de movimentos oculares em pacientes MJD

, 2021
Trabalho Final do Mestrado Integrado em Medicina apresentado à Faculdade de MedicinaSpinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph’s disease (MJD), is the most worldwide known SCA.
Magno, Marta Sofia Abreu Gonçalves
core  

Model of MJD domain contribution to the interaction with Hsp104.

, 2013
(A) Schematic of MJD variants with functional deficiencies. (B) Model of MJD protein conformation as it affects accessibility to Hsp104 treatment. Hsp104 worsens the pathogenicity and enhances aggregation of MJD variants with functional UIMs and an ...
James Shorter (42154), Mimi Cushman-Nick (454359), Nancy M. Bonini (227332)   +2 more
core   +1 more source

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

Frontiers in Neurology, 2017
ObjectivesSpinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen ...
Adriano M. de Assis, Adriano M. de Assis, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Gabriel Vasata Furtado, Tailise Conte Gheno, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Artur Schumacher-Schuh, Rui D’Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Diogo Onofre Souza, Suzi Camey, Suzi Camey, Vanessa Bielefeldt Leotti, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Luis Valmor Portela, Luis Valmor Portela   +39 more
doaj   +1 more source

Anthroponymy evolution of Javanese diaspora names in Malaysia (social onomastics study)

Frontiers in Sociology, 2023
The personal name of the Malaysian Javanese Diaspora (MJD) grows and develops along with the history of dynamic life, thought, social, and cultural developments.
Sahid Teguh Widodo, Suyatno Suyatno, Bahtiar Mohamad, Shafinar Ismail   +3 more
doaj   +1 more source

Characteristics of the studied series of MJD patients.

, 2014
aAdjusted for the average expanded CAG repeat length in the studied series of MJD patients.Characteristics of the studied series of MJD patients.
Wang Ni (654386), Ning Wang (108353), Yi Dong (440404), Zhi-Ying Wu (654388), Qi Zhou (7408), Shi-Rui Gan (654387)   +5 more
core   +1 more source

Identification of the 5-HT1A serotonin receptor as a novel therapeutic target in a C. elegans model of Machado-Joseph disease

Neurobiology of Disease, 2021
Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder that affects movement coordination leading to a premature death. Despite several efforts, no disease-modifying treatment is yet available for
Joana Pereira-Sousa, Bruna Ferreira-Lomba, Aina Bellver-Sanchis, Daniela Vilasboas-Campos, Jorge H. Fernandes, Marta D. Costa, Mark A. Varney, Adrian Newman-Tancredi, Patrícia Maciel, Andreia Teixeira-Castro   +9 more
doaj   +1 more source