ArticleHuman molecular genetics2011
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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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
30 citing papers in PubMed, 50 citations in OpenAlex.
- Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.Orphanet journal of rare diseases · 2024Article
- Review
- Protein kinase CK2 and ion channels (Review).Biomedical reports · 2020Review
- The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina.Cell reports · 2020Article
- Tetraspanin-7 regulation of L-type voltage-dependent calcium channels controls pancreatic β-cell insulin secretion.The Journal of physiology · 2020Article
- Protein Kinase CK2 Controls CaInternational journal of molecular sciences · 2020Article
- Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.Journal of clinical medicine · 2020Article
- Molecular Targets and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
- Integrating molecular networks with genetic variant interpretation for precision medicine.Wiley interdisciplinary reviews. Systems biology and medicine · 2019Review
- The central role of DNA damage and repair in CAG repeat diseases.Disease models & mechanisms · 2018Review
- Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias.Tremor and other hyperkinetic movements (New York, N.Y.) · 2017Article
- Rad51C-ATXN7 fusion gene expression in colorectal tumors.Molecular cancer · 2016Article
- Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model.Human molecular genetics · 2015Article
- Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates.PloS one · 2015Article
- RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration.PloS one · 2014Article
- Edgotype: a fundamental link between genotype and phenotype.Current opinion in genetics & development · 2013Review
- Evolutionarily conserved long intergenic non-coding RNAs in the eye.Human molecular genetics · 2013Article
- Structure and dynamics of molecular networks: a novel paradigm of drug discovery: a comprehensive review.Pharmacology & therapeutics · 2013Review
- Mining exomic sequencing data to identify mutated antigens recognized by adoptively transferred tumor-reactive T cells.Nature medicine · 2013Article
- Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery.PLoS genetics · 2013Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
Spinocerebellar ataxias 6 and 7 (SCA6 and SCA7) are neurodegenerative disorders caused by expansion of CAG repeats encoding polyglutamine (polyQ) tracts in CACNA1A, the alpha1A subunit of the P/Q-type calcium channel, and ataxin-7 (ATXN7), a component of a chromatin-remodeling complex, respectively. We hypothesized that finding new protein partners for ATXN7 and CACNA1A would provide insight into the biology of their respective diseases and their relationship to other ataxia-causing proteins. We identified 118 protein interactions for CACNA1A and ATXN7 linking them to other ataxia-causing proteins and the ataxia network. To begin to understand the biological relevance of these protein interactions within the ataxia network, we used OMIM to identify diseases associated with the expanded ataxia network. We then used Medicare patient records to determine if any of these diseases co-occur with hereditary ataxia. We found that patients with ataxia are at 3.03-fold greater risk of these diseases than Medicare patients overall. One of the diseases comorbid with ataxia is macular degeneration (MD). The ataxia network is significantly (P= 7.37 × 10(-5)) enriched for proteins that interact with known MD-causing proteins, forming a MD subnetwork. We found that at least two of the proteins in the MD subnetwork have altered expression in the retina of Ataxin-7(266Q/+) mice suggesting an in vivo functional relationship with ATXN7. Together these data reveal novel protein interactions and suggest potential pathways that can contribute to the pathophysiology of ataxia, MD, and diseases comorbid with ataxia.
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Registered trials
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