Results 71 to 80 of about 6,842,995 (191)

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A

Stem Cell Research, 2018
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A ...
Stefanie Nicole Hayer, Yvonne Schelling, Jeannette Huebener-Schmid, Jonasz Jeremiasz Weber, Stefan Hauser, Ludger Schöls   +5 more
doaj   +1 more source

Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease. [PDF]

, 2015
Machado-Joseph disease (MJD) is an inherited neurodegenerative disease, caused by a CAG repeat expansion within the coding region of ATXN3 gene, and which currently lacks effective treatment.
Esteves Sofia, Sara Duarte-Silva (818641), Luana Naia (818642), Teixeira-Castro Andreia, Silva-Fernandes Anabela, Duarte-Silva, Sara, Andreia Neves-Carvalho, Andreia Neves-Carvalho (224087), Neves-Carvalho, Andreia, Patrícia Maciel, Anabela Silva-Fernandes, Fernandes, Anabela Silva, Sofia Esteves, Andreia Teixeira-Castro (224088), Ana Cristina Rego (818643), Castro, Andreia Cristiana Teixeira, Silva-Fernandes, Anabela, Luana Naia, Patrícia Maciel (224100), Carvalho, Andreia Alexandra Neves, Rego Ana Cristina, Teixeira-Castro, Andreia, Sofia Esteves (818640), Maciel Patrícia, Neves-Carvalho Andreia, Sara Duarte-Silva, Andreia Teixeira-Castro, Naia Luana, Naia, Luana, Maciel, P., Maciel, Patrícia, Ana Cristina Rego, Esteves, Sofia, Silva, Sara Carina Duarte, Rego, Ana Cristina, Anabela Silva-Fernandes (684103), Duarte-Silva Sara   +36 more
core   +2 more sources

Brain stem and cerebellum volumetric analysis of Machado Joseph disease patients

Arquivos de Neuro-Psiquiatria, 2011
Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3), is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. Previous studies have found correlation between atrophy of cerebellum
S T Camargos, W Marques-Jr, A C Santos
doaj   +1 more source

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, Volume 41, Issue 6, Page 1516-1527, June 2026.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

Redox environment modulates aggregation of ataxin‐3 in vitro — Implications for drug screening of cysteine‐rich proteins

The FEBS Journal, Volume 293, Issue 11, Page 3376-3398, June 2026.
Redox environment modulates in vitro aggregation of Ataxin‐3, the protein implicated in spinocerebellar ataxia type 3. Reducing conditions stabilize native monomers and prevent aggregation, whereas oxidative conditions promote the formation of non‐native conformers and disulfide‐linked oligomers within the Josephin domain (JD).
Martyna Podlasiak, Martina Sollazzo, Elisa Monaca, Raffaele Sabbatella, Maria Agnese Morando, Oleg Chertkov, Laura Puglisi, Martina Mascellino, Anna Fricano, Sandra Macedo‐Ribeiro, Caterina Alfano   +10 more
wiley   +1 more source

Therapy speech impact in quality of life in patients with Machado-Joseph disease [PDF]

, 2016
A doença de Machado-Joseph é uma doença degenerativa e atualmente considerada a ataxia espinocerebelar mais frequente. O processo degenerativo da doença afeta diferentes regiões e funções do sistema nervoso central e/ou periférico.
Finard, Simone Augusta, Olchik, Maira Rozenfeld, Silva, Bibiana Fuzer da   +2 more
core   +1 more source

A família Drew de Walworth: um século após a avaliação inicial finalmente o diagnóstico doença de Machado-Joseph The Drew family of Walworth: one century from the first evaluation until the final diagnosis, Machado-Joseph disease

Arquivos de Neuro-Psiquiatria, 2004
As enfermidades heredo-degenerativas, entre elas as ataxias cerebelares autossômicas dominantes, agora conhecidas como ataxias espinocerebelares (AEC), correspondem a extenso grupo de s com grande heterogeneidade genética.
Hélio A. Ghizoni Teive, Walter Oleschko Arruda   +1 more
doaj   +1 more source

Development and Psychometric Evaluation of the Forensic Nursing Competency Scale‐Short Form for Hospital Nurses

Journal of Advanced Nursing, Volume 82, Issue 6, Page 5937-5950, June 2026.
ABSTRACT Aim To develop and evaluate the psychometric properties of the Forensic Nursing Competency Scale‐Short Form (FNCS‐SF) for hospital nurses. Background Nurses who care for victims of sexual abuse, domestic violence and elder or child abuse require forensic nursing competencies.
Youn‐Jung Son, Na Young Jo, Yun Mi Lee, So Hyun Park   +3 more
wiley   +1 more source

Engineering exosomal cargo loading via endogenous molecular pathways: Strategies to enhance therapeutic potential

Interdisciplinary Medicine, Volume 4, Issue 3, May 2026.
This review illustrates how scientists engineer exosomes by hijacking the cell's own cargo‐sorting machinery. These strategies efficiently load therapeutic molecules into natural vesicles, creating powerful next‐generation drug delivery systems (Created with BioGDP.com).
Huanrong Zhu, Chenning Zhang, Shihan Ma, Zhanxue Xu, Cailing Liang, Fang Cheng, Hongbo Chen   +6 more
wiley   +1 more source

Association Between Cerebellar Metabolic Markers and Activities of Daily Living in Patients With Spinocerebellar Ataxia Type 3

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Significant correlations were found between cerebellar metabolite ratios and Activities of Daily Living (ADL) in SCA3 patients. These findings suggest that cerebellar metabolite ratios may serve as potential neuroimaging biomarkers to predict functional disability in SCA3.
Mei Ye, Xiao Ping Qiu, Shengnan Zhang, Ling Wang, Zhongming Gao, Mengyu Liu, Yaping Feng   +6 more
wiley   +1 more source