David A Pearce

Summary

Affiliation: University of Rochester
Country: USA

Publications

  1. doi request reprint Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies
    Amanda L Getty
    University of Rochester School of Medicine and Dentistry, Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, Box 645, Rochester, New York 14642, USA 1 585 506 1972
    Expert Opin Med Diagn 1:351-62. 2007
  2. ncbi request reprint Investigation of Batten disease with the yeast Saccharomyces cerevisiae
    D A Pearce
    Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    Mol Genet Metab 66:314-9. 1999
  3. ncbi request reprint Experimental models of NCL: the yeast model
    D A Pearce
    Center for Aging and Developmental Biology, Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, New York 14642, USA
    Adv Genet 45:205-16. 2001
  4. ncbi request reprint Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do?
    D A Pearce
    Center for Aging and Developmental Biology, Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, New York 14642, USA
    J Neurosci Res 59:19-23. 2000
  5. pmc Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease
    D A Pearce
    Department of Biochemistry, University of Rochester School of Medicine, Rochester, NY 14642, USA
    Proc Natl Acad Sci U S A 96:11341-5. 1999
  6. ncbi request reprint Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast
    D A Pearce
    Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, NY 14642, USA
    Hum Genet 104:443-8. 1999
  7. ncbi request reprint Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p
    D A Pearce
    Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    Mol Genet Metab 66:320-3. 1999
  8. ncbi request reprint Glutamic acid decarboxylase autoimmunity in Batten disease and other disorders
    David A Pearce
    Center for Aging and Developmental Biology, Department of Biochemistry and Biophysics, Box 645, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurology 63:2001-5. 2004
  9. pmc Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis
    Jill M Weimer
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY 14607, USA
    Brain Res 1266:93-107. 2009
  10. ncbi request reprint Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis
    Jill M Weimer
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Brain Res 1162:98-112. 2007

Research Grants

  1. STUDIES OF YEAST BTNLP AND HUMAN CLN3P IN YEAST
    David Pearce; Fiscal Year: 2006
  2. 11th International Congress on Neuronal Ceroid Lipofuscinosis
    David Pearce; Fiscal Year: 2007
  3. Serum Proteomics for Biomarker Discovery in Batten Disease
    David Pearce; Fiscal Year: 2007
  4. Studies of Yeast BTN1P and Human CLN3P in Yeast
    David Pearce; Fiscal Year: 2009
  5. The Autoimmune Response of Battens Disease
    David Pearce; Fiscal Year: 2009
  6. The Autoimmune Response in Batten Disease
    David Pearce; Fiscal Year: 2006
  7. YEAST BTNLP AND HUMAN CLN3P IN YEAST
    David Pearce; Fiscal Year: 2000
  8. RETINAL CELL MODEL FOR BATTEN DISEASE
    David Pearce; Fiscal Year: 2002
  9. Studies of Yeast BTN1P and Human CLN3P in Yeast
    David Pearce; Fiscal Year: 2009

Collaborators

Detail Information

Publications68

  1. doi request reprint Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies
    Amanda L Getty
    University of Rochester School of Medicine and Dentistry, Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, Box 645, Rochester, New York 14642, USA 1 585 506 1972
    Expert Opin Med Diagn 1:351-62. 2007
    ..However, these ultimately serve to guide targeting the correct route to genetic confirmation of an NCL through mutational analysis. Herein, an effective protocol to diagnose NCLs using these criteria is presented...
  2. ncbi request reprint Investigation of Batten disease with the yeast Saccharomyces cerevisiae
    D A Pearce
    Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    Mol Genet Metab 66:314-9. 1999
    ..These results indicate that yeast can be used as a model for the study of Batten disease...
  3. ncbi request reprint Experimental models of NCL: the yeast model
    D A Pearce
    Center for Aging and Developmental Biology, Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, New York 14642, USA
    Adv Genet 45:205-16. 2001
  4. ncbi request reprint Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do?
    D A Pearce
    Center for Aging and Developmental Biology, Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, New York 14642, USA
    J Neurosci Res 59:19-23. 2000
    ..Furthermore, studies are required to confirm whether CLN3 has a potential role in the recycling of synaptic vesicles through the endosome/lysosome...
  5. pmc Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease
    D A Pearce
    Department of Biochemistry, University of Rochester School of Medicine, Rochester, NY 14642, USA
    Proc Natl Acad Sci U S A 96:11341-5. 1999
    ..This phenotypic reversal of btn1-Delta can be considered for developing a therapy for Batten disease...
  6. ncbi request reprint Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast
    D A Pearce
    Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, NY 14642, USA
    Hum Genet 104:443-8. 1999
    ..Taking into account the homology of paraplegin to these yeast ATP-dependent zinc metalloproteases and what is known about their function, allows us to speculate as to what function paraplegin plays in normal individuals...
  7. ncbi request reprint Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p
    D A Pearce
    Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    Mol Genet Metab 66:320-3. 1999
    ..We have determined that yeast lacking Btn1p have an elevated ability to acidify media during growth that correlates with an elevated plasma membrane ATPase activity. Btn1p may be involved in maintaining pH homeostasis of yeast cells...
  8. ncbi request reprint Glutamic acid decarboxylase autoimmunity in Batten disease and other disorders
    David A Pearce
    Center for Aging and Developmental Biology, Department of Biochemistry and Biophysics, Box 645, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurology 63:2001-5. 2004
    ....
  9. pmc Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis
    Jill M Weimer
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY 14607, USA
    Brain Res 1266:93-107. 2009
    ..These early alterations in the maturation of the cerebellum could underlie some of the motor deficits and pathological changes seen in JNCL patients...
  10. ncbi request reprint Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis
    Jill M Weimer
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Brain Res 1162:98-112. 2007
    ..These data provide novel insights into the basis of motor deficits in JNCL and how alterations in dopamine catabolism may result in oxidative damage and localized neuronal loss in this disorder...
  11. ncbi request reprint Altered gene expression in the eye of a mouse model for batten disease
    Subrata Chattopadhyay
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, New York 14642, USA
    Invest Ophthalmol Vis Sci 45:2893-905. 2004
    ..Although characterized by seizures, mental retardation, and loss of motor skills, the first presenting symptom of Batten disease is vision loss...
  12. ncbi request reprint Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells
    Seasson Phillips Vitiello
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Hum Mol Genet 16:1007-16. 2007
    ..Therefore, elevation of intracellular levels of arginine in btn1-Delta cells is detrimental and is suggestive that btn1-Delta and perhaps mutation of CLN3 predispose cells to keep arginine levels lower than normal...
  13. pmc Interaction among Btn1p, Btn2p, and Ist2p reveals potential interplay among the vacuole, amino acid levels, and ion homeostasis in the yeast Saccharomyces cerevisiae
    Yoojin Kim
    Center for Aging and Developmental Biology, Ann Institute of Biomedical Sciences, School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA
    Eukaryot Cell 4:281-8. 2005
    ....
  14. pmc Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons
    Jill M Weimer
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurobiol Dis 22:284-93. 2006
    ..This study defines a novel path of degeneration within the LGNd, providing a mechanism for causation of JNCL visual deficits...
  15. pmc Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease
    Seasson Phillips Vitiello
    Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Hum Mol Genet 19:931-42. 2010
    ....
  16. ncbi request reprint Early changes in gene expression in two models of Batten disease
    Yasser Elshatory
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA
    FEBS Lett 538:207-12. 2003
    ..Despite the similarities in pathology, the two mutations affect the expression of different, non-overlapping sets of genes. The possible significance of these changes and the pathological mechanisms underlying NCL diseases are discussed...
  17. ncbi request reprint Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole
    Sergio Padilla-López
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, University of Rochester Institute of Medicine and Dentistry, Rochester, NY 14642, USA
    J Biol Chem 281:10273-80. 2006
    ....
  18. pmc Immunosuppression alters disease severity in juvenile Batten disease mice
    Sabrina S Seehafer
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY, United States
    J Neuroimmunol 230:169-72. 2011
    ..Moreover, immune suppression results in a significant improvement in motor performance providing for the first plausible therapeutic approach for juvenile Batten disease...
  19. pmc Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
    Heather R Adams
    Division of Child Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Dev Med Child Neurol 52:637-43. 2010
    ..The secondary aim was to cross-validate the Child Behavior Checklist (CBCL) and the Unified Batten Disease Rating Scale (UBDRS), a disease-specific JNCL rating scale...
  20. pmc Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models
    Chun Hung Chan
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 645, Rochester, NY 14642, USA
    Hum Mol Genet 17:3332-9. 2008
    ....
  21. ncbi request reprint Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease
    Andrew I Brooks
    Center for Functional Genomics, University of Rochester School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA
    Mol Genet Metab 78:17-30. 2003
    ....
  22. ncbi request reprint The yeast model for Batten disease: a role for Btn2p in the trafficking of the Golgi-associated vesicular targeting protein, Yif1p
    Subrata Chattopadhyay
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Biochem Biophys Res Commun 302:534-8. 2003
    ....
  23. pmc A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease
    Yoojin Kim
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Proc Natl Acad Sci U S A 100:15458-62. 2003
    ..We propose that defective transport at the lysosomal membrane caused by an absence of functional CLN3 is the primary biochemical defect that results in Batten disease...
  24. doi request reprint A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(-/-) cells
    Amanda L Getty
    Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Exp Cell Res 317:51-69. 2011
    ..We propose that the migration defect in Cln3(-/-) results, in part, from the loss of the CLN3-myosin-IIB interaction...
  25. ncbi request reprint Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease
    Attila D Kovács
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurobiol Dis 22:575-85. 2006
    ....
  26. pmc pH-dependent localization of Btn1p in the yeast model for Batten disease
    Devin M Wolfe
    Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Dis Model Mech 4:120-5. 2011
    ..Moreover, our results suggest that differential Btn1p localization may be regulated by its glycosylation state. Underlying pathogenic implications for Batten disease of altered cellular distribution of CLN3 are discussed...
  27. ncbi request reprint Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1
    Jill M Weimer
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Biochem Biophys Res Commun 330:1176-81. 2005
    ..However, mutation of CLN3 could lead to alterations in the functioning and positioning of organelles and membrane proteins through this Hook1-Ankyrin G interaction...
  28. pmc Interaction with Btn2p is required for localization of Rsglp: Btn2p-mediated changes in arginine uptake in Saccharomyces cerevisiae
    Subrata Chattopadhyay
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    Eukaryot Cell 1:606-12. 2002
    ..We conclude that Btn2p interacts with Rsglp and modulates arginine uptake. Up-regulation of BTN2 expression in btn1delta strains may facilitate either a direct or indirect effect on intracellular arginine levels...
  29. ncbi request reprint Identification of alpha-fetoprotein as an autoantigen in juvenile Batten disease
    Julian A Castaneda
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Science, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurobiol Dis 29:92-102. 2008
    ....
  30. ncbi request reprint Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease
    Attila D Kovács
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Exp Neurol 209:288-91. 2008
    ..Our results provide a new, promising therapeutic approach for juvenile Batten disease...
  31. ncbi request reprint Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems
    Seasson N Phillips
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Science, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Biochim Biophys Acta 1762:906-19. 2006
    ....
  32. ncbi request reprint Optic nerve degeneration in a murine model of juvenile ceroid lipofuscinosis
    Rebecca M Sappington
    Interdepartmental Graduate Program in Neuroscience, University of Rochester Medical Center, Rochester, New York 14642, USA
    Invest Ophthalmol Vis Sci 44:3725-31. 2003
    ..To investigate optic nerve degeneration associated with CLN3 deficiency in a murine model of juvenile neuronal ceroid lipofuscinosis (Batten disease)...
  33. ncbi request reprint Progressive oxidative damage in the central nervous system of a murine model for juvenile Batten disease
    Jared W Benedict
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    J Neurosci Res 85:2882-91. 2007
    ....
  34. ncbi request reprint Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype
    Jennifer M Kwon
    Department of Neurology, 601 Elmwood Avenue, Box 631, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurosci Lett 387:111-4. 2005
    ..She had classical disease progression, suggesting that this mutation in CLN3 mimics the more prevalent 1 kb deletion and that progression of JNCL is predominantly the result of loss of CLN3 function...
  35. ncbi request reprint Defective lysosomal arginine transport in juvenile Batten disease
    Denia Ramirez-Montealegre
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, Rochester, NY 14642, USA
    Hum Mol Genet 14:3759-73. 2005
    ..CLN3 may have a role in regulating intracellular levels of arginine possibly through control of the transport of this amino acid into lysosomes...
  36. doi request reprint Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2
    Jared W Benedict
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    J Neurosci Res 87:2157-66. 2009
    ..We concluded that alterations in neurite maturation resulting from a loss of CLN6-CRMP-2 interaction may contribute to neuronal dysfunction and pathology in vLINCL...
  37. ncbi request reprint Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2
    Adam R Leman
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Ave, Box 626, Rochester, NY 14642, USA
    J Neurosci Methods 157:124-31. 2006
    ..This new assay, combined with a test for the common 1 kbp deletion in the CLN3 gene, provides a set of DNA-based assays suitable for detection of the most common mutations causing NCL with onset in the juvenile age range...
  38. ncbi request reprint Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease
    Elizabeth Kriscenski-Perry
    Center for Aging and Developmental Biology, Department of Biochemistry and Biophysics, and Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    Epilepsia 43:1137-40. 2002
    ..We hypothesized that lack of Cln3 would alter seizure-related behavioral parameters...
  39. ncbi request reprint An autoantibody to GAD65 in sera of patients with juvenile neuronal ceroid lipofuscinoses
    Subrata Chattopadhyay
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, NY, USA
    Neurology 59:1816-7. 2002
  40. ncbi request reprint CLN3, the protein associated with batten disease: structure, function and localization
    Seasson N Phillips
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    J Neurosci Res 79:573-83. 2005
    ..Recent evidence also suggests that CLN3 traffics via the plasma membrane. Although the function of this protein remains elusive, it is apparent that genetic alterations in Cln3 may have a direct affect on lysosomal function...
  41. pmc Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3(Δex7/8)-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
    Rozzy Finn
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurochem Int 58:648-55. 2011
    ..Our results demonstrate altered glutamate receptor function in Cln3(Δex7/8) neurons and suggest that both AMPA and NMDA receptors are potential therapeutic targets in JNCL...
  42. pmc Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease
    Paul G Rothberg
    Department of Pathology and Laboratory Medicine, 601 Elmwood Ave, Box 626, Rochester, NY 14642, USA
    J Mol Diagn 6:260-3. 2004
    ..PCR followed by allele-specific melting curve analysis using nucleobase quenching has utility as a rapid method for detection of the most common mutation that causes Batten disease...
  43. pmc Altered glutamate receptor function in the cerebellum of the Ppt1-/- mouse, a murine model of infantile neuronal ceroid lipofuscinosis
    Rozzy Finn
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
    J Neurosci Res 90:367-75. 2012
    ..Our results indicate an AMPA receptor hypofunction and NMDA receptor hyperfunction phenotype in Ppt1(-/-) neurons and provide new therapeutic targets for INCL...
  44. doi request reprint Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2
    Karyn Schmidt
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY 14620, USA
    Biochem Biophys Res Commun 383:198-202. 2009
    ..Further studies on the function of Ypk9p/ATP13A2 may help to define the molecular basis of Kufor-Rakeb syndrome and provide a potential link to environmental factors such as heavy metals contributing to some forms of Parkinsonism...
  45. pmc Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies
    Heather R Adams
    University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
    J Child Neurol 22:621-7. 2007
    ....
  46. pmc Altered sensitivity to excitotoxic cell death and glutamate receptor expression between two commonly studied mouse strains
    Rozzy Finn
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
    J Neurosci Res 88:2648-60. 2010
    ..We propose that differences in glutamate receptor expression and in excitotoxic vulnerability should be taken into consideration in the context of characterizing disease models on the C57BL/6J and 129S6/S(v)E(v) mouse backgrounds...
  47. ncbi request reprint The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease
    Jill M Weimer
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, New York 14642, USA
    Neuromolecular Med 1:111-24. 2002
    ..We review the function of the CLN-proteins and discuss the possibility that a disruption in a common biological process leads to an NCL-disease...
  48. ncbi request reprint Sequential down-regulation of E-cadherin with squamous cell carcinoma progression: loss of E-cadherin via a prostaglandin E2-EP2 dependent posttranslational mechanism
    Sabine Brouxhon
    Department of Emergency Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    Cancer Res 67:7654-64. 2007
    ..Further understanding of how UV-PGE2-EP2 down-regulates E-cadherin may lead to novel chemopreventative strategies for the treatment of skin and other epithelial cancers...
  49. pmc Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease
    Attila D Kovács
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neuropharmacology 60:405-9. 2011
    ..We propose that temporary inhibition of AMPA receptors can induce a prolonged correction of the pre-existing abnormal glutamatergic neurotransmission in vivo for juvenile Batten disease...
  50. doi request reprint Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye
    Sara Bozorg
    Department of Ophthalmology, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    Surv Ophthalmol 54:463-71. 2009
    ..We update Batten disease research, particularly as it relates to the eye, and present various theories on the pathophysiology of retinal degeneration...
  51. ncbi request reprint An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease
    Subrata Chattopadhyay
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Hum Mol Genet 11:1421-31. 2002
    ..We propose that an autoimmune response to GAD65 may contribute to a preferential loss of GABAergic neurons associated with Batten disease...
  52. doi request reprint Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease
    Sabrina S Seehafer
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Biochem Biophys Res Commun 382:247-51. 2009
    ..We conclude that cellular disturbances outside the lysosome in addition to compromised function of this organelle can result in accumulation of lysosomal AFSM in NCLs and possibly as a result of cellular aging...
  53. ncbi request reprint Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis
    Heather Adams
    University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Dev Med Child Neurol 48:259-64. 2006
    ..Longitudinal assessment of behavioral and psychiatric symptoms and functional abilities is continuing and will provide much-needed data on the natural history of JNCL...
  54. doi request reprint Seizure Susceptibility, Phenotype, and Resultant Growth Delay in the nclf and mnd Mouse Models of Neuronal Ceroid Lipofuscinoses
    Elizabeth Kriscenski-Perry
    1Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA
    J Child Neurol 28:1137-41. 2013
    ..These and our previous results suggest that abnormal seizure-related neuronal connectivity and/or plasticity are shared characteristics of the neuronal ceroid lipofuscinoses. ..
  55. ncbi request reprint Enhanced mitochondrial degradation of yeast cytochrome c with amphipathic structures
    Xi Chen
    Department of Biochemistry and Biophysics, School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA
    Curr Genet 47:67-83. 2005
    ..The use of ADD assisted in the differentiation of substrates of different mitochondrial degradation pathways...
  56. ncbi request reprint Another disorder finds its gene
    Denia Ramirez-Montealegre
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, Rochester, NY 14642, USA
    Brain 129:1353-6. 2006
  57. ncbi request reprint You say lipofuscin, we say ceroid: defining autofluorescent storage material
    Sabrina S Seehafer
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, University of Rochester, School of Medicine and Dentistry, Rochester, NY 14642, USA
    Neurobiol Aging 27:576-88. 2006
    ....
  58. ncbi request reprint Immune system irregularities in lysosomal storage disorders
    Julian A Castaneda
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Acta Neuropathol 115:159-74. 2008
    ..In this review we bridge biochemical studies on the lysosomal compartment's role in the immune system with clinical data on immune system irregularities in a subset of LSDs...
  59. ncbi request reprint Channeling studies in yeast: yeast as a model for channelopathies?
    Devin M Wolfe
    Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA
    Neuromolecular Med 8:279-306. 2006
    ..The utility of using yeast as a model system for studying ion channels associated to human disease is illustrated using yeast lacking the GEF1 gene product that encodes the human homolog to the chloride channel CLC-3...
  60. ncbi request reprint Prediction of biologically significant components from microarray data: Independently Consistent Expression Discriminator (ICED)
    Rahul Bijlani
    Department of Computer Science, University of Rochester School of Medicine and Dentistry, NY 14642, USA
    Bioinformatics 19:62-70. 2003
    ..The result is a novel approach to accurately select biologically relevant predictors of differential disease states from a small number of microarray samples...
  61. ncbi request reprint High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease
    Michael R Pears
    Department of Biochemistry, Tennis Court Road, University of Cambridge, Cambridge CB2 1GA, United Kingdom
    J Biol Chem 280:42508-14. 2005
    ..Together, these changes represent the first documented pre-symptomatic symptoms of the Cln3 mouse at 1 month of age and demonstrate the versatility of 1H NMR spectroscopy as a tool for phenotyping mouse models of disease...
  62. ncbi request reprint IgG entry and deposition are components of the neuroimmune response in Batten disease
    Ming J Lim
    Pediatric Storage Disorders Laboratory, Department of Neuroscience and Centre for the Cellular Basis of Behaviour, Institute of Psychiatry, King s College London, De Crespigny Park, London SE5 8AF, UK
    Neurobiol Dis 25:239-51. 2007
    ....
  63. ncbi request reprint Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation
    Charlie C Pontikis
    Pediatric Storage Disorders Laboratory, MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, De Crespigny Park, King s College London, London, SE5 8AF, UK
    Brain Res 1023:231-42. 2004
    ..These data provide evidence for subtle glial responses early in JNCL pathogenesis...
  64. pmc Nitric oxide signaling is disrupted in the yeast model for Batten disease
    Nuno S Osório
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, 4710 Braga, Portugal
    Mol Biol Cell 18:2755-67. 2007
    ..We propose that in JNCL, a limited capacity to synthesize .NO directly caused by the absence of Cln3 function may contribute to the pathology of the disease...
  65. ncbi request reprint Maternal antibrain antibodies in autism
    Andrew W Zimmerman
    Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
    Brain Behav Immun 21:351-7. 2007
    ..The identification of specific serum antibodies in mothers of children with autism that recognize prenatally expressed brain antigens suggests that these autoantibodies could cross the placenta and alter fetal brain development...
  66. ncbi request reprint Altered amino acid levels in sera of a mouse model for juvenile neuronal ceroid lipofuscinoses
    David A Pearce
    Clin Chim Acta 332:145-8. 2003
  67. ncbi request reprint Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease
    Steve K Cho
    Department of Internal Medicine and Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Glycobiology 15:637-48. 2005
    ..3% of the autofluorescent storage material by mass. The accumulation of LLOs is postulated to result from inhibition of late stages of lysosomal degradation of autophagosomes, which may be enriched in these metabolic precursors...
  68. ncbi request reprint Reelin signaling is impaired in autism
    S Hossein Fatemi
    Department of Psychiatry, Division of Neuroscience Research, University of Minnesota, Minneapolis, MN 55455, USA
    Biol Psychiatry 57:777-87. 2005
    ..Recent genetic linkage studies implicate Reelin glycoprotein in causation of autism. To further investigate these studies, brain levels of Reelin protein and mRNA and mRNAs for VLDLR, Dab-1, and GSK3 were investigated...

Research Grants25

  1. STUDIES OF YEAST BTNLP AND HUMAN CLN3P IN YEAST
    David Pearce; Fiscal Year: 2006
    ..An understanding of the function of Btnlp (and Cln3p) in yeast could furnish valuable information on Batten's disease in humans. ..
  2. 11th International Congress on Neuronal Ceroid Lipofuscinosis
    David Pearce; Fiscal Year: 2007
    ..The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases. ..
  3. Serum Proteomics for Biomarker Discovery in Batten Disease
    David Pearce; Fiscal Year: 2007
    ..Completion of the proposed studies would likely prove valuable in identification of markers of more complex neurodegenerative diseases ..
  4. Studies of Yeast BTN1P and Human CLN3P in Yeast
    David Pearce; Fiscal Year: 2009
    ..Finally we will characterize the pathway of trafficking Btnlp to the vacuole. Further understanding of Btnlp (and ClnSp) in yeast will provide valuable information on the pathogenesis of Batten disease. ..
  5. The Autoimmune Response of Battens Disease
    David Pearce; Fiscal Year: 2009
    ..PUBLIC HEALTH RELEVANCE: The proposed research is relevant and significant as it has the potential to increase our understanding of Batten's Disease and ultimately impact therapeutic strategies for this disease. ..
  6. The Autoimmune Response in Batten Disease
    David Pearce; Fiscal Year: 2006
    ..iv) characterize cell type specific molecular effects that elevated glutamate and exposure to the autoantibody have on primary neuronal culture from cln3-knockout mice. ..
  7. YEAST BTNLP AND HUMAN CLN3P IN YEAST
    David Pearce; Fiscal Year: 2000
    ..Genetic screens will be done to find other mutants resistant to APN, to find suppressors of btn1, and to find mutations that are synthetically lethal with btn1. ..
  8. RETINAL CELL MODEL FOR BATTEN DISEASE
    David Pearce; Fiscal Year: 2002
    ....
  9. Studies of Yeast BTN1P and Human CLN3P in Yeast
    David Pearce; Fiscal Year: 2009
    ..Finally we will characterize the pathway of trafficking Btnlp to the vacuole. Further understanding of Btnlp (and ClnSp) in yeast will provide valuable information on the pathogenesis of Batten disease. ..