STEVEN UPSHAW WALKLEY

Summary

Affiliation: Albert Einstein College of Medicine
Country: USA

Publications

  1. pmc Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression
    Cristin D Davidson
    Dominick P Purpura Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York, United States of America
    PLoS ONE 4:e6951. 2009
  2. pmc Pathogenic cascades in lysosomal disease-Why so complex?
    S U Walkley
    Dominick P Purpura Department of Neuroscience, Rose F Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY, 10461, USA
    J Inherit Metab Dis 32:181-9. 2009
  3. doi request reprint Secondary lipid accumulation in lysosomal disease
    Steven U Walkley
    Dominick P Purpura Department of Neuroscience, Rose F Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY, USA
    Biochim Biophys Acta 1793:726-36. 2009
  4. ncbi request reprint Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome
    Steven U Walkley
    Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Acta Paediatr Suppl 96:26-32. 2007
  5. ncbi request reprint Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease
    S U Walkley
    Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Neuropathol Appl Neurobiol 31:536-44. 2005
  6. ncbi request reprint Consequences of NPC1 and NPC2 loss of function in mammalian neurons
    Steven U Walkley
    Sidney Weisner Laboratory of Genetic Neurological Disease Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Biochim Biophys Acta 1685:48-62. 2004
  7. ncbi request reprint Secondary accumulation of gangliosides in lysosomal storage disorders
    Steven U Walkley
    Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY 10461, USA
    Semin Cell Dev Biol 15:433-44. 2004
  8. pmc Neurobiology and cellular pathogenesis of glycolipid storage diseases
    Steven U Walkley
    Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Philos Trans R Soc Lond B Biol Sci 358:893-904. 2003
  9. ncbi request reprint New proteins from old diseases provide novel insights in cell biology
    S U Walkley
    Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Curr Opin Neurol 14:805-10. 2001
  10. ncbi request reprint Cellular pathology of lysosomal storage disorders
    S U Walkley
    Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Brain Pathol 8:175-93. 1998

Collaborators

Detail Information

Publications28

  1. pmc Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression
    Cristin D Davidson
    Dominick P Purpura Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York, United States of America
    PLoS ONE 4:e6951. 2009
    ..This finding suggested that administration of CD alone, but with greater frequency, might provide additional benefit...
  2. pmc Pathogenic cascades in lysosomal disease-Why so complex?
    S U Walkley
    Dominick P Purpura Department of Neuroscience, Rose F Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY, 10461, USA
    J Inherit Metab Dis 32:181-9. 2009
    ..Analysis of lysosomal disease pathogenesis provides a unique window through which to observe the importance of the greater lysosomal system for normal cell health...
  3. doi request reprint Secondary lipid accumulation in lysosomal disease
    Steven U Walkley
    Dominick P Purpura Department of Neuroscience, Rose F Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY, USA
    Biochim Biophys Acta 1793:726-36. 2009
    ....
  4. ncbi request reprint Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome
    Steven U Walkley
    Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Acta Paediatr Suppl 96:26-32. 2007
    ....
  5. ncbi request reprint Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease
    S U Walkley
    Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Neuropathol Appl Neurobiol 31:536-44. 2005
    ..Given the close pathological and biochemical similarities between feline and human MPS VI, it is conceivable that children with this disease have similar neuronal involvement...
  6. ncbi request reprint Consequences of NPC1 and NPC2 loss of function in mammalian neurons
    Steven U Walkley
    Sidney Weisner Laboratory of Genetic Neurological Disease Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Biochim Biophys Acta 1685:48-62. 2004
    ....
  7. ncbi request reprint Secondary accumulation of gangliosides in lysosomal storage disorders
    Steven U Walkley
    Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY 10461, USA
    Semin Cell Dev Biol 15:433-44. 2004
    ....
  8. pmc Neurobiology and cellular pathogenesis of glycolipid storage diseases
    Steven U Walkley
    Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Philos Trans R Soc Lond B Biol Sci 358:893-904. 2003
    ....
  9. ncbi request reprint New proteins from old diseases provide novel insights in cell biology
    S U Walkley
    Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Curr Opin Neurol 14:805-10. 2001
    ..Given the advancements of the past year, it is apparent that some of the most significant insights are yet to come, as we delineate the last remaining and most enigmatic of these diseases...
  10. ncbi request reprint Cellular pathology of lysosomal storage disorders
    S U Walkley
    Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Brain Pathol 8:175-93. 1998
    ....
  11. ncbi request reprint GM2 ganglioside as a regulator of pyramidal neuron dendritogenesis
    S U Walkley
    Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Ann N Y Acad Sci 845:188-99. 1998
    ..These findings are consistent with GM2 ganglioside playing a pivotal role in the regulation of dendritogenesis in cortical pyramidal neurons...
  12. ncbi request reprint Gangliosides as modulators of dendritogenesis in normal and storage disease-affected pyramidal neurons
    S U Walkley
    Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Cereb Cortex 10:1028-37. 2000
    ....
  13. ncbi request reprint Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
    M Zervas
    Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Neuropathol Exp Neurol 60:49-64. 2001
    ..These studies suggest that the homeostatic regulation of gangliosides and cholesterol in neurons is mediated by NPC1 and that perturbations in this mechanism cause a complex neuronal storage disorder...
  14. ncbi request reprint Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside
    D A Siegel
    Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461
    J Neurochem 62:1852-62. 1994
    ....
  15. ncbi request reprint Initiation and growth of ectopic neurites and meganeurites during postnatal cortical development in ganglioside storage disease
    S U Walkley
    Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461
    Brain Res Dev Brain Res 51:167-78. 1990
    ....
  16. ncbi request reprint Critical role for glycosphingolipids in Niemann-Pick disease type C
    M Zervas
    Department of Neuroscience, Rose F Kennedy Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Curr Biol 11:1283-7. 2001
    ....
  17. ncbi request reprint A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome)
    M Bhaumik
    Department of Cell Biology, Albert Einstein College of Medicine, New York, NY 10461, USA
    Glycobiology 9:1389-96. 1999
    ..The MPS III A mouse provides an excellent model for evaluating pathogenic mechanisms of disease and for testing treatment strategies, including enzyme or cell replacement and gene therapy...
  18. ncbi request reprint Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage
    Keishi Narita
    Department of Biochemistry and Molecular Biology Mayo Clinic and Foundation Rochester, Minnesota 55905, USA
    FASEB J 19:1558-60. 2005
    ..These observations provide important new information about the correction of membrane traffic in NPC cells by Rab9 overexpression and may lead to new therapeutic approaches for treatment of this disease...
  19. ncbi request reprint Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent
    MARJORIE C GONDRE-LEWIS
    Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Curr Biol 13:1324-9. 2003
    ....
  20. ncbi request reprint Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene
    Stacie K Loftus
    National Human Genome Research Institute, Genetic Disease Research Branch, National Institutes of Health, 49 Convent Drive, Building 49, Bethesda, MD 20892, USA
    Hum Mol Genet 11:3107-14. 2002
    ....
  21. pmc Bone marrow transplantation for feline mucopolysaccharidosis I
    N Matthew Ellinwood
    Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Genet Metab 91:239-50. 2007
    ..Immunohistochemical and biochemical analysis documented decreased central nervous system ganglioside storage. This large animal MPS I study will serve as a benchmark of future therapies designed to improve on BMT...
  22. pmc Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport
    David E Sleat
    Center for Advanced Biotechnology and Medicine, Piscataway, NJ 08854, USA
    Proc Natl Acad Sci U S A 101:5886-91. 2004
    ..These findings provide genetic evidence that the NPC1 and NPC2 proteins function in concert to facilitate the intracellular transport of lipids from the lysosome to other cellular sites...
  23. pmc Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease
    S Joshua Langmade
    Center for Cardiovascular Research, Department of Internal Medicine, and Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 103:13807-12. 2006
    ..These findings suggest that treatment with pregnane X receptor ligands may be useful clinically in delaying the progressive neurodegeneration in human NPC disease...
  24. ncbi request reprint Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
    Robert McGlynn
    Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Comp Neurol 480:415-26. 2004
    ....
  25. pmc Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV
    Bhuvarahamurthy Venugopal
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Am J Hum Genet 81:1070-83. 2007
    ..In addition, this model provides an invaluable resource for testing treatment strategies and potential therapies aimed at preventing or ameliorating the abnormal lysosomal storage in this devastating neurological disorder...
  26. pmc Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis
    David E Sleat
    Center for Advanced Biotechnology and Medicine, Piscataway, NJ 08854, USA
    Mol Genet Metab 94:222-33. 2008
    ....
  27. ncbi request reprint Targeted mutation of the MLN64 START domain causes only modest alterations in cellular sterol metabolism
    Tatsuro Kishida
    Center for Research on Reproduction and Women s Health, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 279:19276-85. 2004
    ..These observations suggest that the Mln64 START domain is largely dispensable for sterol metabolism in mice...
  28. ncbi request reprint Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis
    Allison C Crawley
    Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children, Youth and Women s Health Service, North Adelaide, SA, Australia
    J Neuropathol Exp Neurol 66:687-97. 2007
    ..Our findings show that complex neuropathologic changes in alpha-mannosidosis guinea pigs are already present at birth, before clinical changes are evident, and similar events are likely to occur in patients with this disorder...

Research Grants16

  1. GANGLIOSIDES AND DENDRITOGENESIS IN CORTICAL DEVELOPMENT
    STEVEN WALKLEY; Fiscal Year: 1999
    ..The goal of this research proposal is to rigorously test this hypothesis in the normal, developing cerebral cortex using a combination of in vivo and in vitro studies. ..
  2. Substrate Reduction Therapies for Niemann-Pick C Disease
    STEVEN UPSHAW WALKLEY; Fiscal Year: 2010
    ..abstract_text> ..
  3. The Glycoproteinoses: Second International Workshop on Advances in Pathogenesis a
    STEVEN WALKLEY; Fiscal Year: 2007
    ..Enhancement of research on the glycoproteinoses could provide important breakthroughs for the understanding and treatment of not only these diseases but for all genetic brain disorders. ..
  4. Substrate Reduction Therapies for Niemann-Pick C Disease
    STEVEN WALKLEY; Fiscal Year: 2007
    ....
  5. Endosomal-Lysosomal Function in Neuronal Storage Disease
    STEVEN UPSHAW WALKLEY; Fiscal Year: 2010
    ..abstract_text> ..
  6. Substrate Reduction Therapies for Niemann-Pick C Disease
    STEVEN WALKLEY; Fiscal Year: 2006
    ....
  7. Endosomal-Lysosomal Function in Neuronal Storage Disease
    STEVEN WALKLEY; Fiscal Year: 2006
    ..Such advances in understanding we believe will provide new insights into potential treatment strategies and further elucidate the critical role played by the endosomal-lysosomal system in both health and disease. ..
  8. Endosomal-Lysosomal Function in Neuronal Storage Disease
    STEVEN WALKLEY; Fiscal Year: 2005
    ..Such advances in understanding we believe will provide new insights into potential treatment strategies and further elucidate the critical role played by the endosomal-lysosomal system in both health and disease. ..
  9. Endosomal-Lysosomal Function in Neuronal Storage Disease
    STEVEN WALKLEY; Fiscal Year: 2004
    ..Such advances in understanding we believe will provide new insights into potential treatment strategies and further elucidate the critical role played by the endosomal-lysosomal system in both health and disease. ..
  10. GANGLIOSIDES AND DENDRITOGENESIS IN CORTICAL DEVELOPMENT
    STEVEN WALKLEY; Fiscal Year: 2001
    ..The goal of this research proposal is to rigorously test this hypothesis in the normal, developing cerebral cortex using a combination of in vivo and in vitro studies. ..
  11. GANGLIOSIDES AND DENDRITOGENESIS IN CORTICAL DEVELOPMENT
    STEVEN WALKLEY; Fiscal Year: 2000
    ..The goal of this research proposal is to rigorously test this hypothesis in the normal, developing cerebral cortex using a combination of in vivo and in vitro studies. ..
  12. GANGLIOSIDES AND DENDRITOGENESIS IN CORTICAL DEVELOPMENT
    STEVEN WALKLEY; Fiscal Year: 2000
    ..The goal of this research proposal is to rigorously test this hypothesis in the normal, developing cerebral cortex using a combination of in vivo and in vitro studies. ..
  13. Substrate Reduction Therapies for Niemann-Pick C Disease
    STEVEN WALKLEY; Fiscal Year: 2009
    ..abstract_text> ..
  14. Endosomal-Lysosomal Function in Neuronal Storage Disease
    STEVEN WALKLEY; Fiscal Year: 2009
    ..abstract_text> ..
  15. Endosomal-Lysosomal Function in Neuronal Storage Disease
    STEVEN WALKLEY; Fiscal Year: 2007
    ..Such advances in understanding we believe will provide new insights into potential treatment strategies and further elucidate the critical role played by the endosomal-lysosomal system in both health and disease. ..