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Lesch-Nyhan Disease: A Model for Complex Genetic, Proteomic & Metabolic Pathways

Funding type: research
Funder scheme: R24
Start date: 2008-09-30
End date: 2014-08-31
Investigator: THEODORE FRIEDMANN
Institution: UNIVERSITY OF CALIFORNIA, SAN DIEGO
Funded outputs count: 35
Funder award ID: R24DK082840
OpenAlex ID: G2747505880
Phylogenetic debugging of a complete human biosynthetic pathway transplanted into yeast
2019 · Neta Agmon, Jasmine Temple, et al. · Nucleic Acids Research · 28
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Consequences of impaired purine recycling on the proteome in a cellular model of Lesch–Nyhan disease
2015 · Eric B. Dammer, Martin Göttle, et al. · Molecular Genetics and Metabolism · 15
MicroRNAs
2015 · Ghiabe-Henri Guibinga · Advances in genetics · 5
Striatal Neurodevelopment Is Dysregulated in Purine Metabolism Deficiency and Impacts DARPP-32, BDNF/TrkB Expression and Signaling: New Insights on the Molecular and Cellular Basis of Lesch-Nyhan Syndrome
2014 · Ghiabe-Henri Guibinga, Nikki Barron, et al. · PLoS ONE · 17
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PhosphoNetworks: a database for human phosphorylation networks
2013 · Jianfei Hu, Hee-Sool Rho, et al. · Bioinformatics · 115
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The Housekeeping Gene Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Regulates Multiple Developmental and Metabolic Pathways of Murine Embryonic Stem Cell Neuronal Differentiation
2013 · Tae Hyuk Kang, Yongjin Park, et al. · PLoS ONE · 57
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Profiling the Dynamics of a Human Phosphorylome Reveals New Components in HGF/c-Met Signaling
2013 · Crystal L. Woodard, C. Rory Goodwin, et al. · PLoS ONE · 19
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Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder
2013 · Rong Fu, Irene Ceballos-Picot, et al. · Brain · 129
Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling
2013 · Martin Göttle, Heike Burhenne, et al. · Journal of Neurochemistry · 48
Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndrome
2013 · Ghiabe-Henri Guibinga, Fiona Murray, et al. · Human Molecular Genetics · 17
HPRT-Deficiency Dysregulates cAMP-PKA Signaling and Phosphodiesterase 10A Expression: Mechanistic Insight and Potential Target for Lesch-Nyhan Disease?
2013 · Ghiabe-Henri Guibinga, Fiona Murray, et al. · PLoS ONE · 29
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Construction of human activity‐based phosphorylation networks
2013 · Robert H Newman, Jianfei Hu, et al. · Molecular Systems Biology · 159
Overview of Protein Microarrays
2013 · F.X. Reymond Sutandy, Jiang Qian, et al. · Current Protocols in Protein Science · 219
Interactome Mapping: Using Protein Microarray Technology to Reconstruct Diverse Protein Networks
2013 · Ijeoma Uzoma, Heng Zhu · Genomics Proteomics & Bioinformatics · 27
Functional protein microarray as molecular decathlete: A versatile player in clinical proteomics
2012 · Heng Zhu, Eric Cox, et al. · PROTEOMICS - CLINICAL APPLICATIONS · 16
How networks change with time
2012 · Yongjin Park, Joel S. Bader · Bioinformatics · 44
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Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase
2012 · Lina Mastrangelo, Ji-Eun Kim, et al. · Proceedings of the National Academy of Sciences · 55
Insulin resistance in the nervous system
2012 · Bhumsoo Kim, Eva L. Feldman · Trends in Endocrinology and Metabolism · 321
Genotype-Phenotype Correlations in Lesch-Nyhan Disease
2011 · Rong Fu, H.A. Jinnah · Journal of Biological Chemistry · 52
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MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch–Nyhan disease?
2011 · Ghiabe-Henri Guibinga, Gorjan Hrustanovic, et al. · Human Molecular Genetics · 42
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Hyperinsulinemia Induces Insulin Resistance in Dorsal Root Ganglion Neurons
2011 · Bhumsoo Kim, Lisa L. McLean, et al. · Endocrinology · 108
HPRT Deficiency Coordinately Dysregulates Canonical Wnt and Presenilin-1 Signaling: A Neuro-Developmental Regulatory Role for a Housekeeping Gene?
2011 · Tae Hyuk Kang, Ghiabe-Henri Guibinga, et al. · PLoS ONE · 47
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Cortical Neurons Develop Insulin Resistance and Blunted Akt Signaling: A Potential Mechanism Contributing to Enhanced Ischemic Injury in Diabetes
2011 · Bhumsoo Kim, Kelli A. Sullivan, et al. · Antioxidants and Redox Signaling · 93
Faculty Opinions recommendation of A microarray-based genetic screen for yeast chronological aging factors.
2010 · Anuj Kumar, Cole Johnson · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
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Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants
2010 · Radhika Sampat, Rong Fu, et al. · Human Genetics · 27
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