ArticleGenomics2004
Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene.
Article in Genomics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases.The Biochemical journal · 2024Review
- Physiological and pathophysiological characteristics of ataxin-3 isoforms.The Journal of biological chemistry · 2019Article
- Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3.Frontiers in molecular neuroscience · 2018Article
- Ataxin-3 promotes genome integrity by stabilizing Chk1.Nucleic acids research · 2017Article
- The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis.PLoS genetics · 2015Article
- Allosteric regulation of deubiquitylase activity through ubiquitination.Frontiers in molecular biosciences · 2015Article
- Characterization of the conformational fluctuations in the Josephin domain of ataxin-3.Biophysical journal · 2014Article
- Trinucleotide repeats: a structural perspective.Frontiers in neurology · 2013Article
- Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).Cerebellum (London, England) · 2012Article
- Toward understanding Machado-Joseph disease.Progress in neurobiology · 2012Review
- Machado-Joseph disease/spinocerebellar ataxia type 3.Handbook of clinical neurology · 2012Review
- Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways.Human molecular genetics · 2011Article
- Mouse ataxin-3 functional knock-out model.Neuromolecular medicine · 2011Article
- Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels.PloS one · 2010Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Machado-Joseph disease (MJD) is a neurodegenerative disorder, caused by the expansion of the (CAG)n tract in the MJD gene. This encodes the protein ataxin-3, of unknown function. The mouse Mjd gene has a structure similar to that of its human counterpart and it also contains a TATA-less promoter. Its 5' flanking region contains conserved putative binding regions for transcription factors Sp1, USF, Arnt, Max, E47, and MyoD. Upon differentiation of P19 cells, the Mjd gene promoter is preferentially activated in endodermal and mesodermal derivatives, including cardiac and skeletal myocytes; and less so in neuronal precursors. Mouse ataxin-3 is ubiquitously expressed during embryonic development and in the adult, with strong expression in regions of the CNS affected in MJD. It is particularly abundant in all types of muscle and in ciliated epithelial cells, suggesting that it may be associated with the cytoskeleton and may have an important function in cell structure and/or motility.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.