Research Topics
Genomes and Genes | Alice S Chen-PlotkinSummaryAffiliation: University of Pennsylvania Country: USA Publications
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Publications
TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathwaysAlice S Chen-Plotkin
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
J Neurosci 32:11213-27. 2012..Evidence for this pathogenic cascade includes the striking convergence of two independent, genomic-scale screens on a microRNA:mRNA regulatory pair. Our findings open novel directions for elucidating miR-based therapies in FTLD-TDP...
Brain progranulin expression in GRN-associated frontotemporal lobar degenerationAlice S Chen-Plotkin
Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Acta Neuropathol 119:111-22. 2010....
Genetic and clinical features of progranulin-associated frontotemporal lobar degenerationAlice S Chen-Plotkin
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
Arch Neurol 68:488-97. 2011..To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of frontotemporal lobar degeneration (FTLD)...
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degenerationAlice S Chen-Plotkin
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Hum Mol Genet 17:1349-62. 2008..In addition, these data from a large number of human brains provide a valuable resource for future testing of disease hypotheses...
Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosisRyan Vass
Department of Neurology, University of Pennsylvania School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA
Acta Neuropathol 121:373-80. 2011..These findings implicate the FTLD-TDP risk gene TMEM106B in the development of cognitive impairment in ALS...
Genetic influences on cognitive decline in Parkinson's diseaseJames F Morley
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvalia, USA
Mov Disord 27:512-8. 2012..Clinically, these results suggest that genotyping can provide information about the risk of future cognitive decline for PD patients...
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALSAndrew C Elden
Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Nature 466:1069-75. 2010..Furthermore, these findings indicate that the TDP-43-ATXN2 interaction may be a promising target for therapeutic intervention in ALS and other TDP-43 proteinopathies...
Plasma epidermal growth factor levels predict cognitive decline in Parkinson diseaseAlice S Chen-Plotkin
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Ann Neurol 69:655-63. 2011..Most people with Parkinson disease (PD) eventually develop cognitive impairment (CI). However, neither the timing of onset nor the severity of cognitive symptoms can be accurately predicted. We sought plasma-based biomarkers for CI in PD...
TAR DNA-binding protein 43 in neurodegenerative diseaseAlice S Chen-Plotkin
Department of Neurology, University of Pennsylvania School of Medicine, 3600 Spruce Street, Philadelphia, PA 19104 4283, USA
Nat Rev Neurol 6:211-20. 2010....
Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's diseaseAlice S Chen-Plotkin
MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital B114 2000, 114 16th Street, Charlestown, MA 02129 4404, USA
Neurobiol Dis 22:233-41. 2006..Moreover, the altered binding seen with Sp1 is not found with another transcription factor, NF-Y. These findings suggest that mutant huntingtin dissociates Sp1 from target promoters, inhibiting transcription of specific genes...
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysisVivianna M Van Deerlin
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Lancet Neurol 7:409-16. 2008..Our aim was to investigate whether TARDBP is a candidate disease gene for familial ALS that is not associated with mutations in superoxide dismutase 1 (SOD1)...
