Alice S Chen-Plotkin

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. pmc Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes
    Johanna I Busch
    Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 25:2681-2697. 2016
  2. pmc Unbiased approaches to biomarker discovery in neurodegenerative diseases
    Alice S Chen-Plotkin
    Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, 3 West Gates, 3400 Spruce Street, Philadelphia, PA 19104, USA Electronic address
    Neuron 84:594-607. 2014
  3. pmc Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain
    Johanna I Busch
    Departments of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
    Acta Neuropathol Commun 1:36. 2013
  4. pmc TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways
    Alice S Chen-Plotkin
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 32:11213-27. 2012
  5. pmc Brain progranulin expression in GRN-associated frontotemporal lobar degeneration
    Alice 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
  6. pmc Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration
    Alice 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
  7. pmc Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration
    Alice 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
  8. pmc Development and validation of pedigree classification criteria for frontotemporal lobar degeneration
    Elisabeth M Wood
    Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia
    JAMA Neurol 70:1411-7. 2013
  9. pmc Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis
    Ryan Vass
    Department of Neurology, University of Pennsylvania School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA
    Acta Neuropathol 121:373-80. 2011
  10. pmc Genetic influences on cognitive decline in Parkinson's disease
    James F Morley
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvalia, USA
    Mov Disord 27:512-8. 2012

Detail Information

Publications22

  1. pmc Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes
    Johanna I Busch
    Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 25:2681-2697. 2016
    ..In sum, our results suggest that TMEM106B exerts its effects on FTLD-TDP disease risk through alterations in lysosomal pathways. Furthermore, TMEM106B and C9orf72 may interact in FTLD-TDP pathophysiology...
  2. pmc Unbiased approaches to biomarker discovery in neurodegenerative diseases
    Alice S Chen-Plotkin
    Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, 3 West Gates, 3400 Spruce Street, Philadelphia, PA 19104, USA Electronic address
    Neuron 84:594-607. 2014
    ..In this review, I will describe the potential utility of such an approach to biomarker discovery, using Parkinson's disease as a case example. ..
  3. pmc Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain
    Johanna I Busch
    Departments of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
    Acta Neuropathol Commun 1:36. 2013
    ..Indeed, TMEM106B expression levels, which correlate with TMEM106B genotype, may play a role in the pathogenesis of disease...
  4. pmc TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways
    Alice 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...
  5. pmc Brain progranulin expression in GRN-associated frontotemporal lobar degeneration
    Alice 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
    ....
  6. pmc Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration
    Alice 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)...
  7. pmc Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration
    Alice 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...
  8. pmc Development and validation of pedigree classification criteria for frontotemporal lobar degeneration
    Elisabeth M Wood
    Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia
    JAMA Neurol 70:1411-7. 2013
    ..There is also great need to develop clinical tools and approaches that will assist clinicians in the identification and counseling of patients with FTLD and their families regarding the likelihood of an identifiable genetic cause...
  9. pmc Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis
    Ryan 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...
  10. pmc Genetic influences on cognitive decline in Parkinson's disease
    James 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...
  11. pmc Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    Andrew 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...
  12. pmc Plasma apolipoprotein A1 as a biomarker for Parkinson disease
    Judy K Qiang
    Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA
    Ann Neurol 74:119-27. 2013
    ..To identify plasma-based biomarkers for Parkinson disease (PD) risk...
  13. pmc TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
    Michael D Gallagher
    Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    Acta Neuropathol 127:407-18. 2014
    ....
  14. pmc Plasma epidermal growth factor levels predict cognitive decline in Parkinson disease
    Alice 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...
  15. pmc TAR DNA-binding protein 43 in neurodegenerative disease
    Alice 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
    ....
  16. pmc CSF biomarkers associated with disease heterogeneity in early Parkinson's disease: the Parkinson's Progression Markers Initiative study
    Ju Hee Kang
    Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, 7 103 Founders Pavilion 3400 Spruce Street, Philadelphia, PA, 19104, USA
    Acta Neuropathol 131:935-49. 2016
    ..Our data suggest that the measurement of CSF biomarkers in early-stage PD patients may relate to disease heterogeneity seen in PD. Longitudinal observations in PPMI subjects are needed to define their prognostic performance. ..
  17. pmc Defining and validating a short form Montreal Cognitive Assessment (s-MoCA) for use in neurodegenerative disease
    David R Roalf
    Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA
    J Neurol Neurosurg Psychiatry 87:1303-1310. 2016
    ..Yet, administration time is too long for many clinical settings...
  18. pmc Lower plasma apolipoprotein A1 levels are found in Parkinson's disease and associate with apolipoprotein A1 genotype
    Christine R Swanson
    Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Mov Disord 30:805-12. 2015
    ..Future studies evaluating modulation of ApoA1 as a novel therapeutic strategy in PD are warranted. © 2014 International Parkinson and Movement Disorder Society. ..
  19. pmc Plasma apolipoprotein A1 associates with age at onset and motor severity in early Parkinson's disease patients
    Christine R Swanson
    Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Mov Disord 30:1648-56. 2015
    ..Here, we validate plasma apolipoprotein A1 (ApoA1) as a correlate of age at onset and motor severity in PD...
  20. pmc TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis
    Vivianna 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)...
  21. ncbi Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease
    Alice 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...
  22. pmc An Alzheimer's Disease-Derived Biomarker Signature Identifies Parkinson's Disease Patients with Dementia
    Yosef Berlyand
    Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 11:e0147319. 2016
    ..Based on five measures readily obtained during life, this AD-derived signature may prove useful in identifying PDD patients most likely to respond to AD-based crossover therapies. ..