Results 91 to 100 of about 9,929 (238)
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 +9 more
doaj +1 more source
Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. [PDF]
, 2016 Spinocerebellar ataxia type-3 (SCA-3) is a rare disease but it is the most frequent type within the autosomal dominant inherited ataxias. The disease lacks an effective treatment to alleviate major symptoms and to modify disease progression.
Fernández Ruiz, José Javier +10 more
core +1 more source
Decoding the Oncogenic Role of USP22 Through Pan‐Cancer Genomic and Epigenetic Analysis
Cancer Reports, Volume 9, Issue 5, May 2026.ABSTRACT Background Ubiquitin‐specific protease 22, an important catalytic component of the human SAGA (Spt‐Ada‐GcN5 Acetyltransferase) complex, regulates the deubiquitination and methylation of histones, which in turn influences gene expression. Its overexpression alters gene regulation, transcription, cancer progression, and therapy resistance.
Uma Devi A., Prakash Kumar Shukla
wiley +1 more source
Structural insights into the activity and regulation of human Josephin-2
Journal of Structural Biology: X, 2019 The MJD family of human deubiquitinating enzymes contains four members: Ataxin-3, the ataxin-3-like protein (AT3L), Josephin-1, and Josephin-2. All share a conserved catalytic unit known as the Josephin domain.
Kimberly C. Grasty +2 more
doaj +1 more source
Arthritis Care &Research, Volume 78, Issue 4, Page 456-468, April 2026.Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla +13 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2017 Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene.
Lodewijk J.A. Toonen +3 more
doaj +1 more source
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 +6 more
wiley +1 more source
Protein Aggregates and Polyglutamine Tracts In Neurodegenerative Disease [PDF]
, 2018 The incidence of neurodegenerative diseases such as Alzheimer\u27s Disease, Parkinson\u27s Disease, Huntington\u27s Disease and other Polyglutamine Diseases is projected to dramatically increase throughout the developed world, and yet the pathology of ...
Mack, John
core +1 more source
External and internal triggers of cell death in yeast [PDF]
, 2016 In recent years, yeast was confirmed as a useful eukaryotic model system to decipher the complex mechanisms and networks occurring in higher eukaryotes, particularly in mammalian cells, in physiological as well in pathological conditions.
FALCONE, Claudio, MAZZONI, Cristina
core +2 more sources
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.
A Barbeau +73 more
core +7 more sources