A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration
Open accessAbstract
Many human inherited neurodegenerative disorders are characterized by loss of balance due to cerebellar Purkinje cell (PC) degeneration. Although the disease-causing mutations have been identified for a number of these disorders, the normal functions of the proteins involved remain, in many cases, unknown. To gain insight into the function of proteins involved in PC degeneration, we developed an interaction network for 54 proteins involved in 23 inherited ataxias and expanded the network by incorporating literature-curated and evolutionarily conserved interactions. We identified 770 mostly novel protein-protein interactions using a stringent yeast two-hybrid screen; of 75 pairs tested, 83% of the interactions were verified in mammalian cells. Many ataxia-causing proteins share interacting partners, a subset of which have been found to modify neurodegeneration in animal models. This interactome thus provides a tool for understanding pathogenic mechanisms common for this class of neurodegenerative disorders and for identifying candidate genes for inherited ataxias.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
NLK physically interacts with ATXN1.
“NLK physically interacts with ATXN1”
From Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1 (2013) · cites this paper as Lim et al., 2006
Lim and colleagues used a seed-based Y2H screen to identify interactors of multiple causal and candidate genes in inherited ataxias.
“Lim and colleagues164 used a seed-based approach based on a Y2H screen to identify interactors of the protein products of multiple causal and candidate genes in inherited ataxias.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [164]
Analysis of the resulting PPI network identified an interconnected network of proteins related to inherited ataxias.
“Analysis of the resultant PPI network identified an interconnected network of proteins related to inherited ataxias.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [164]
Cites
Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing
Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482 · see citing works
Emergence of Scaling in Random Networks
Barabási, A.-L., & Albert, R. (1999) · Science · doi:10.1126/science.286.5439.509 · Cited by 36,135 · see citing works
Gentleman R: R: A language for data analysis and graphics
Ihaka, R., & Gentleman, R. (1996) · Journal of Computational and Graphical Statistics · doi:10.1080/10618600.1996.10474713 · Cited by 11,747 · see citing works
Network biology: understanding the cell's functional organization
Barabási, A.-L., & Oltvai, Z. N. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1272 · Cited by 7,903 · see citing works
Self-citationA comprehensive analysis of protein–protein interactions in Saccharomyces cerevisiae
Uetz, P., Giot, L., Cagney, G., Mansfield, T. A., Judson, R. S., Knight, J. R., Lockshon, D., Narayan, V., Srinivasan, M., Pochart, P., et al. (2000) · Nature · doi:10.1038/35001009 · Cited by 4,706 · see citing works
R: A Language for Data Analysis and Graphics
Ihaka, R., & Gentleman, R. C. (1996) · Journal of Computational and Graphical Statistics · doi:10.2307/1390807 · Cited by 4,245 · see citing works
A comprehensive two-hybrid analysis to explore the yeast protein interactome
Ito, T., Chiba, T., Ozawa, R., Yoshida, M., Hattori, M., & Sakaki, Y. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.061034498 · Cited by 3,566 · see citing works
Specificity and Stability in Topology of Protein Networks
Maslov, S., & Sneppen, K. (2002) · Science · doi:10.1126/science.1065103 · Cited by 3,051 · see citing works
Towards a proteome-scale map of the human protein–protein interaction network
Rual, J.-F. M., Venkatesan, K., Hao, T., Hirozane-Kishikawa, T., Dricot, A., Li, N., Berriz, G. F., Gibbons, F. D., Dreze, M., Ayivi-Guedehoussou, N., et al. (2005) · Nature · doi:10.1038/nature04209 · Cited by 2,904 · see citing works
Self-citationA Human Protein-Protein Interaction Network: A Resource for Annotating the Proteome
Stelzl, U., Worm, U., Lalowski, M. M., Haenig, C., Brembeck, F. H., Goehler, H., Strödicke, M., Zenkner, M., Schoenherr, A., Koeppen, S., et al. (2005) · Cell · doi:10.1016/j.cell.2005.08.029 · Cited by 2,389 · see citing works
Ravikumar, B., Vacher, C., Berger, Z., Davies, J. E., Luo, S., Oroz, L. G., Scaravilli, F., Easton, D. F., Duden, R., O'Kane, C. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1362 · Cited by 2,347 · see citing works
A Protein Interaction Map of Drosophila melanogaster
Giot, L., Bader, J. S., Brouwer, C., Chaudhuri, A., Kuang, B., Li, Y., Hao, Y. L., Ooi, C., Godwin, B., Vitols, E., et al. (2003) · Science · doi:10.1126/science.1090289 · Cited by 2,266 · see citing works
Xénarios, I. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.1.303 · Cited by 1,746 · see citing works
A Map of the Interactome Network of the Metazoan C. elegans
Li, S., Armstrong, C. M., Bertin, N., Ge, H., Milstein, S., Boxem, M., Vidalain, P., Han, J.-D. J., Chesneau, A., Hao, T., et al. (2004) · Science · doi:10.1126/science.1091403 · Cited by 1,628 · see citing works
Self-citationBIND--The Biomolecular Interaction Network Database
Bader, G. D. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.242 · Cited by 1,556 · see citing works
Glutamine Repeats and Neurodegeneration
Zoghbi, H. Y., & Orr, H. T. (2000) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.23.1.217 · Cited by 1,311 · see citing works
Self-citationA Bayesian Networks Approach for Predicting Protein-Protein Interactions from Genomic Data
Jansen, R., Yu, H., Greenbaum, D. S., Kluger, Y., Krogan, N. J., Chung, S., Emili, A., Snyder, M. P., Greenblatt, J. F., & Gerstein, M. (2003) · Science · doi:10.1126/science.1087361 · Cited by 1,254 · see citing works
Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila
Steffan, J. S., Bodai, L., Pallos, J., Poelman, M., McCampbell, A., Apostol, B. L., Kazantsev, A., Schmidt, E., Zhu, Y.-Z., Greenwald, M., et al. (2001) · Nature · doi:10.1038/35099568 · Cited by 1,228 · see citing works
Scale-free networks in cell biology
Albert, R. (2005) · Journal of Cell Science · doi:10.1242/jcs.02714 · Cited by 1,218 · see citing works
CLIP Identifies Nova-Regulated RNA Networks in the Brain
Ule, J., Jensen, K. B., Ruggiu, M., Mele, A., Ule, A., & Darnell, R. B. (2003) · Science · doi:10.1126/science.1090095 · Cited by 1,120 · see citing works
BIND: the Biomolecular Interaction Network Database
Bader, G. D. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg056 · Cited by 1,113 · see citing works
Kristiansen, T. Z., Navarro, J. D., Amanchy, R., Kristiansen, T. Z., Jonnalagadda, C. K., Surendranath, V., Niranjan, V., Muthusamy, B., Gandhi, T. K. B., Gronborg, M., et al. (2003) · Genome Research · doi:10.1101/gr.1680803 · Cited by 1,078 · see citing works
MINT: a Molecular INTeraction database
Zanzoni, A., Montecchi‐Palazzi, L., Quondam, M., Ausiello, G., Helmer‐Citterich, M., & Cesareni, G. (2001) · FEBS Letters · doi:10.1016/s0014-5793(01)03293-8 · Cited by 792 · see citing works
Protein Interaction Mapping in C. elegans Using Proteins Involved in Vulval Development
Walhout, A. J. M., Sordella, R., Lu, X., Hartley, J. L., Temple, G. F., Brasch, M. A., Thierry‐Mieg, N., & Vidal, M. (2000) · Science · doi:10.1126/science.287.5450.116 · Cited by 757 · see citing works
Self-citationIdentification of genes that modify ataxin-1-induced neurodegeneration
Fernandez-Funez, P., Nino-Rosales, M. L., de Gouyon, B., She, W.-C., Luchak, J. M., Martinez, P., Turiegano, E., Benito, J., Capovilla, M., Skinner, P. J., et al. (2000) · Nature · doi:10.1038/35040584 · Cited by 661 · see citing works
Self-citationFunctional and topological characterization of protein interaction networks
Yook, S., Oltvai, Z. N., & Barabási, A.-Ĺ. (2004) · PROTEOMICS · doi:10.1002/pmic.200300636 · Cited by 615 · see citing works
Self-citationThe harlequin mouse mutation downregulates apoptosis-inducing factor
Klein, J. A., Longo-Guess, C. M., Rossmann, M. P., Seburn, K. L., Hurd, R. E., Frankel, W. N., Bronson, R. T., & Ackerman, S. L. (2002) · Nature · doi:10.1038/nature01034 · Cited by 605 · see citing works
Genetic Suppression of Polyglutamine Toxicity in Drosophila
Kazemi‐Esfarjani, P., & Benzer, S. (2000) · Science · doi:10.1126/science.287.5459.1837 · Cited by 562 · see citing works
The MIPS mammalian protein–protein interaction database
Pagel, P., Kovac, S., Oesterheld, M., Brauner, B., Dunger-Kaltenbach, I., Frishman, G., Montrone, C., Mark, P., Stümpflen, V., Mewes, H., et al. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bti115 · Cited by 541 · see citing works
Nova regulates brain-specific splicing to shape the synapse
Ule, J., Ule, A., Spencer, J., Williams, A., Hu, J.-S., Cline, M., Wang, H., Clark, T., Fraser, C., Ruggiu, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1610 · Cited by 509 · see citing works
Disruption of the nuclear hormone receptor RORα in staggerer mice
Hamilton, B. A., Frankel, W. N., Kerrebrock, A. W., Hawkins, T. L., FitzHugh, W., Kusumi, K., Russell, L. B., Mueller, K. L., van Berkel, V. H., Birren, B. W., et al. (1996) · Nature · doi:10.1038/379736a0 · Cited by 492 · see citing works
Loss of cerebellar Purkinje cells in aged mice homozygous for a disrupted PrP gene
Sakaguchi, S., Katamine, S., Nishida, N., Moriuchi, R., Shigematsu, K., Sugimoto, T., Nakatani, A., Kataoka, Y., Houtani, T., Shirabe, S., et al. (1996) · Nature · doi:10.1038/380528a0 · Cited by 485 · see citing works
Cummings, C. J. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.14.1511 · Cited by 485 · see citing works
Goehler, H., Lalowski, M., Stelzl, U., Waelter, S., Stroedicke, M., Worm, U., Droege, A., Lindenberg, K. S., Knoblich, M., Haenig, C., et al. (2004) · Molecular Cell · doi:10.1016/j.molcel.2004.09.016 · Cited by 453 · see citing works
Engert, J. C., Bérubé, P., Mercier, J., Doré, C., Lepage, P., Ge, B., Bouchard, J.-P., Mathieu, J., Melançon, S. B., Schalling, M., et al. (2000) · Nature Genetics · doi:10.1038/72769 · Cited by 434 · see citing works
Chen, H.-K., Fernandez-Funez, P., Acevedo, S. F., Lam, Y. C., Kaytor, M. D., Fernandez, M. H., Aitken, A., Skoulakis, E. M. C., Orr, H. T., Botas, J., et al. (2003) · Cell · doi:10.1016/s0092-8674(03)00349-0 · Cited by 414 · see citing works
Self-citationJin, Y., Suzuki, H., Maegawa, S., Endo, H., Sugano, S., Hashimoto, K., Yasuda, K., & Inoue, K. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg089 · Cited by 311 · see citing works
Underwood, J. G., Boutz, P. L., Dougherty, J. D., Stoilov, P., & Black, D. L. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.22.10005-10016.2005 · Cited by 272 · see citing works
RBF, a novel RB-related gene that regulates E2F activity and interacts with cyclin E in Drosophila.Preprint
Du, W., Vidal, M., Xie, J. E., & Dyson, N. J. (1996) · Genes & Development · doi:10.1101/gad.10.10.1206 · Cited by 258 · see citing works
Self-citationPurkinje cell degeneration ( pcd ) Phenotypes Caused by Mutations in the Axotomy-Induced Gene, Nna1
Fernandez‐Gonzalez, A., Spada, A. R. L., Treadaway, J., Higdon, J., Harris, B. S., Sidman, R. L., Morgan, J. I., & Zuo, J. (2002) · Science · doi:10.1126/science.1068912 · Cited by 247 · see citing works
Human ORFeome Version 1.1: A Platform for Reverse ProteomicsPreprint
Rual, J.-F. M., Hirozane-Kishikawa, T., Hao, T., Bertin, N., Li, S., Dricot, A., Li, N., Rosenberg, J., Lamesch, P., Vidalain, P., et al. (2004) · Genome Research · doi:10.1101/gr.2973604 · Cited by 242 · see citing works
Self-citationTsuda, H., Jafar‐Nejad, H., Patel, A. J., Sun, Y., Chen, H.-K., Rose, M. F., Venken, K. J. T., Botas, J., Orr, H. T., Bellen, H. J., et al. (2005) · Cell · doi:10.1016/j.cell.2005.06.012 · Cited by 205 · see citing works
Self-citationPathways to motor incoordination: the inherited ataxias
Taroni, F., & DiDonato, S. (2004) · Nature reviews. Neuroscience · doi:10.1038/nrn1474 · Cited by 202 · see citing works
Nakahata, S. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki338 · Cited by 184 · see citing works
Jansen, R., & Gerstein, M. (2004) · Current Opinion in Microbiology · doi:10.1016/j.mib.2004.08.012 · Cited by 176 · see citing works
A genomic approach of the hepatitis C virus generates a protein interaction map
Flajolet, M., Rotondo, G., Daviet, L., Bergametti, F., Inchauspé, G., Tiollais, P., Transy, C., & Legrain, P. (2000) · Gene · doi:10.1016/s0378-1119(99)00511-9 · Cited by 163 · see citing works
Increasing specificity in high-throughput yeast two-hybrid experiments
Vidalain, P., Boxem, M., Ge, H., Li, S., & Vidal, M. (2004) · Methods · doi:10.1016/j.ymeth.2003.10.001 · Cited by 158 · see citing works
Self-citationGenome‐wide protein interaction maps using two‐hybrid systems
Legrain, P., & Selig, L. (2000) · FEBS Letters · doi:10.1016/s0014-5793(00)01774-9 · Cited by 148 · see citing works
Doppel-induced cerebellar degeneration in transgenic mice
Moore, R. C., Mastrangelo, P., Bouzamondo, E., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.251550798 · Cited by 145 · see citing works
Ishikawa, K., Toru, S., Tsunemi, T., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/432518 · Cited by 130 · see citing works
Mouse and fly models of neurodegeneration
Zoghbi, H. Y., & Botas, J. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02729-4 · Cited by 111 · see citing works
Self-citationGhosh, S., & Feany, M. Β. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh214 · Cited by 106 · see citing works
Matsuda, J., Kido, M., Tadano‐Aritomi, K., Ishizuka, I., Tominaga, K., Toida, K., Takeda, E., Suzuki, K., & Kuroda, Y. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh281 · Cited by 94 · see citing works
Yoshida, H., Yoshizawa, T., Shibasaki, F., Shoji, S., & Kanazawa, I. (2002) · Neurobiology of Disease · doi:10.1006/nbdi.2002.0502 · Cited by 92 · see citing works
A Mutation inAf4Is Predicted to Cause Cerebellar Ataxia and Cataracts in the Robotic Mouse
Isaacs, A. M., Oliver, P. L., Jones, E. L., Jeans, A. F., Potter, A. C., Hovik, B. H., Nolan, P. M., Vizor, L., Glenister, P. H., Simon, A. K., et al. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-05-01631.2003 · Cited by 79 · see citing works
OntologyTraverser: an R package for GO analysis
Young, A., Whitehouse, N. L., Cho, J., et al. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth495 · Cited by 43 · see citing works
A new ENU-induced allele of mouse quaking causes severe CNS dysmyelination
Noveroske, J. K., Hardy, R., Dapper, J. D., et al. (2005) · Mammalian Genome · doi:10.1007/s00335-005-0035-x · Cited by 40 · see citing works
Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene
Sun, X., Harada, Y., Takahashi, S., Shiomi, N., & Shiomi, T. (2001) · Journal of Neuroscience Research · doi:10.1002/jnr.1085 · Cited by 30 · see citing works
A cell-based screen for modulators of ataxin-1 phosphorylation.
Kaytor, M., Byam, C. E., Tousey, S. K., Stevens, S., Zoghbi, H., & Orr, H. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi122 · Cited by 27 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Network medicine: a network-based approach to human disease
Barabási, A.-L., Gulbahce, N., & Loscalzo, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2918 · Cited by 5,034 · see citing works
Self-citationInteractome Networks and Human Disease
Vidal, M., Cusick, M. E., & Barabási, A.-L. (2011) · Cell · doi:10.1016/j.cell.2011.02.016 · Cited by 1,771 · see citing works
Self-citationIdeker, T., & Sharan, R. (2008) · Genome Research · doi:10.1101/gr.071852.107 · Cited by 817 · see citing works
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Parikshak, N. N., Gandal, M. J., & Geschwind, D. H. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3934 · Cited by 430 · see citing works
Rossin, E. J., Lage, K., Raychaudhuri, S., Xavier, R. J., Tatar, D., Benita, Y., Constortium, I. I. B. D. G., Cotsapas, C., & Daly, M. J. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001273 · Cited by 438 · see citing works
Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges
Lovci, M. T., Ghanem, D., Marr, H., Arnold, J., Gee, S., Parra, M., Liang, T. Y., Stark, T. J., Gehman, L. T., Hoon, S., et al. (2013) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2699 · Cited by 385 · see citing works
Hepatitis C virus infection protein network
de Chassey, B., Navratil, V, Tafforeau, L., Hiet, M. S., Aublin‐Gex, A., Agaugué, S., Meiffren, G., Pradezynski, F., Faria, B. F., Chantier, T., et al. (2008) · Molecular Systems Biology · doi:10.1038/msb.2008.66 · Cited by 384 · see citing works
Self-citationNeuronal regulation of alternative pre-mRNA splicing
Li, Q., Lee, J.-A., & Black, D. L. (2007) · Nature Reviews Neuroscience · doi:10.1038/nrn2237 · Cited by 376 · see citing works
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
Lim, J., Crespo-Barreto, J., Jafar-Nejad, P., Bowman, A. B., Richman, R., Hill, D. E., Orr, H. T., & Zoghbi, H. Y. (2008) · Nature · doi:10.1038/nature06731 · Cited by 311 · see citing works
Self-citationNetwork Organization of the Huntingtin Proteomic Interactome in Mammalian Brain
Shirasaki, D. I., Greiner, E. R., Al-Ramahi, I., Gray, M., Boontheung, P., Geschwind, D. H., Botas, J., Coppola, G., Horvath, S., Loo, J. A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.05.024 · Cited by 297 · see citing works
Huett, A., Heath, R. J., Begun, J., Sassi, S. O., Baxt, L. A., Vyas, J. M., Goldberg, M. B., & Xavier, R. J. (2012) · Cell Host & Microbe · doi:10.1016/j.chom.2012.10.019 · Cited by 239 · see citing works
Protein interactome reveals converging molecular pathways among autism disorders
Sakai, Y., Shaw, C. A., Dawson, B. C., Dugas, D. V., Al-Mohtaseb, Z., Hill, D. E., & Zoghbi, H. Y. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002166 · Cited by 226 · see citing works
Self-citationNeuroscience in the era of functional genomics and systems biology
Geschwind, D. H., & Konopka, G. (2009) · Nature · doi:10.1038/nature08537 · Cited by 213 · see citing works
The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function
Gehman, L. T., Meera, P., Stoilov, P., Shiue, L., O'Brien, J. E., Meisler, M. H., Ares, M., Otis, T. S., & Black, D. L. (2012) · Genes & Development · doi:10.1101/gad.182477.111 · Cited by 213 · see citing works
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
Fogel, B. L., Wexler, E., Wahnich, A., Friedrich, T., Vijayendran, C., Gao, F., Parikshak, N., Konopka, G., & Geschwind, D. H. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds240 · Cited by 216 · see citing works
Modules, networks and systems medicine for understanding disease and aiding diagnosis
Gustafsson, M., Nestor, C. E., Zhang, H., Barabási, A.-L., Baranzini, S., Brunak, S., Chung, K. F., Federoff, H. J., Gavin, A.-C., Meehan, R. R., et al. (2014) · Genome Medicine · doi:10.1186/s13073-014-0082-6 · Cited by 194 · see citing works
Self-citationRNA Binding Protein with Multiple Splicing: A New Marker for Retinal Ganglion Cells
Kwong, J. M. K., Caprioli, J., & Piri, N. (2010) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.09-4098 · Cited by 191 · see citing works
Fox-1 family of RNA-binding proteins
Kuroyanagi, H. (2009) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-009-0120-5 · Cited by 187 · see citing works
RNA Protein Interaction in Neurons
Darnell, R. B. (2013) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-062912-114322 · Cited by 181 · see citing works
Building Robust Transcriptomes with Master Splicing Factors
Jangi, M., & Sharp, P. A. (2014) · Cell · doi:10.1016/j.cell.2014.09.054 · Cited by 141 · see citing works
Corominas, R., Yang, X., Lin, G. N., Kang, S., Shen, Y., Ghamsari, L., Broly, M., Rodriguez, M., Tam, S., Wanamaker, S. A., et al. (2014) · Nature Communications · doi:10.1038/ncomms4650 · Cited by 140 · see citing works
“Historically, only a single so-called ‘reference’ isoform of each gene (or its fragments) has been used in the disease PPI network studies 17,23–25 .”
Self-citationChen-Plotkin, A. S., Geser, F., Plotkin, J. B., Clark, C. M., Kwong, L. K., Yuan, W., Grossman, M., Van Deerlin, V. M., Trojanowski, J. Q., & Lee, V. M.-Y. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn023 · Cited by 135 · see citing works
Autoregulation of Fox protein expression to produce dominant negative splicing factors
Damianov, A., & Black, D. L. (2010) · RNA · doi:10.1261/rna.1838210 · Cited by 120 · see citing works
Network Medicine in Pathobiology
Lee, L. Y.-H., & Loscalzo, J. (2019) · The American Journal of Pathology · doi:10.1016/j.ajpath.2019.03.009 · Cited by 95 · see citing works
Orchestration of Neurodevelopmental Programs by RBFOX1
Bill, B. R., Lowe, J. K., DyBuncio, C. T., & Fogel, B. L. (2013) · International Review of Neurobiology · doi:10.1016/b978-0-12-418700-9.00008-3 · Cited by 94 · see citing works
Neurogenetics: Advancing the “Next-Generation” of Brain Research
Zoghbi, H. Y., & Warren, S. T. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.015 · Cited by 48 · see citing works
Self-citationMotor coordination defects in mice deficient for the Sam68 RNA-binding protein
Lukong, K. E., & Richard, S. (2008) · Behavioural Brain Research · doi:10.1016/j.bbr.2008.01.010 · Cited by 48 · see citing works
Rankinen, T., Sung, Y. J., Sarzynski, M. A., Rice, T. K., Rao, D. C., & Bouchard, C. (2012) · Journal of Applied Physiology · doi:10.1152/japplphysiol.01287.2011 · Cited by 45 · see citing works
Farooqui, A., Tazyeen, S., Ahmed, M. M., Alam, A., Ali, S., Malik, M. Z., Ali, S., & Ishrat, R. (2018) · Scientific Reports · doi:10.1038/s41598-018-28375-0 · Cited by 30 · see citing works
Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1
Ju, H., Kokubu, H., Todd, T. W., Kahle, J. J., Kim, S., Richman, R., Chirala, K., Orr, H. T., Zoghbi, H. Y., & Lim, J. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.3465-12.2013 · Cited by 31 · see citing works
“…understand the disease pathogenesis better and to identify an effector protein that can be potentially used as a therapeutic target in SCA1, we examined candidate proteins identified from our previous physical interaction or genetic modifier studies (Fernandez-Funez et al., 2000; Lim et al., 2006).”
BackgroundMethodInfluentialSelf-citationGDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia
Eidhof, I., Baets, J., Kamsteeg, E.-J., Deconinck, T., van Ninhuijs, L., Martin, J.-J., Schüle, R., Züchner, S., De Jonghe, P., Schenck, A., et al. (2018) · Brain · doi:10.1093/brain/awy198 · Cited by 25 · see citing works
Villani, G. R. D., Chierchia, A., Di Napoli, D., & Di Natale, P. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-011-9403-8 · Cited by 15 · see citing works
- Authors
- Lim, J., Hao, T., Shaw, C., Patel, A. J., Szabó, G., Rual, J.-F., Fisk, C. J., Li, N., Smolyar, A., Hill, D. E., Barabási, A.-L., Vidal, M., & Zoghbi, H. Y.
- Affiliations
- Baylor College of Medicine (US)
- Harvard University (US)
- University of Notre Dame (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Zoghbi, Huda Y.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2006-05
- Volume
- 125
- Issue
- 4
- Pages
- 801-814
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W1989684700
- Cited by
- 789
- References
- 59
- Citations by year
- 2026: 4 · 2025: 13 · 2024: 21 · 2023: 17 · 2022: 10 · 2021: 23 · 2020: 21 · 2019: 34 · 2018: 36 · 2017: 41 · 2016: 31 · 2015: 39 · 2014: 48 · 2013: 51 · 2012: 69
- FWCI
- 25.69
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 2670 d)
- doi.org/10.15223/policy-017 (stm-asf)
- doi.org/10.15223/policy-037 (stm-asf)
- doi.org/10.15223/policy-012 (stm-asf)
- doi.org/10.15223/policy-029 (stm-asf)
- doi.org/10.15223/policy-004 (stm-asf)
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (NS 27699)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 24064, P30HD024064)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Keywords
- hereditary ataxia, Purkinje cell degeneration, cerebellar degeneration, protein-protein interaction network, yeast two-hybrid screen, neurodegenerative diseases, candidate gene identification, pathophysiological mechanisms
- MeSH terms
- Animals, Ataxia, Humans, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Purkinje Cells, Evolution, Molecular, Computational Biology, Neurodegenerative Diseases, Proteome, Two-Hybrid System Techniques, Databases, Protein
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
