Research Topics
| STEVEN UPSHAW WALKLEYSummaryAffiliation: Albert Einstein College of Medicine Country: USA Publications
Research Grants
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Detail Information
Publications
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...
Consequences of NPC1 and NPC2 loss of function in mammalian neuronsSteven 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....- Neurobiology and cellular pathogenesis of glycolipid storage diseasesSteven 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.... - Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) diseaseS 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... - New proteins from old diseases provide novel insights in cell biologyS 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... - Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosomeSteven 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.... - Secondary accumulation of gangliosides in lysosomal storage disordersSteven 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.... - Gangliosides as modulators of dendritogenesis in normal and storage disease-affected pyramidal neuronsS 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.... 
Secondary lipid accumulation in lysosomal diseaseSteven 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....- GM2 ganglioside as a regulator of pyramidal neuron dendritogenesisS 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... - Cellular pathology of lysosomal storage disordersS 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.... - Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterationsM 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... - Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 gangliosideD 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.... - Initiation and growth of ectopic neurites and meganeurites during postnatal cortical development in ganglioside storage diseaseS 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.... - Critical role for glycosphingolipids in Niemann-Pick disease type CM Zervas
Department of Neuroscience, Rose F Kennedy Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Curr Biol 11:1283-7. 2001.... - 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... - Bone marrow transplantation for feline mucopolysaccharidosis IN 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... - Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transportDavid 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... - Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C diseaseS 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... - Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgeneStacie 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.... - Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storageKeishi 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... - Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disordersRobert 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.... - Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependentMARJORIE 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.... - Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosisAllison 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... - Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IVBhuvarahamurthy 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... - Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosisDavid E Sleat
Center for Advanced Biotechnology and Medicine, Piscataway, NJ 08854, USA
Mol Genet Metab 94:222-33. 2008.... - Targeted mutation of the MLN64 START domain causes only modest alterations in cellular sterol metabolismTatsuro 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...
Research Grants
- Substrate Reduction Therapies for Niemann-Pick C DiseaseSTEVEN UPSHAW WALKLEY; Fiscal Year: 2010..abstract_text> ..
- The Glycoproteinoses: Second International Workshop on Advances in Pathogenesis aSTEVEN 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. ..
- Substrate Reduction Therapies for Niemann-Pick C DiseaseSTEVEN WALKLEY; Fiscal Year: 2007....
- Endosomal-Lysosomal Function in Neuronal Storage DiseaseSTEVEN 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. ..
- GANGLIOSIDES AND DENDRITOGENESIS IN CORTICAL DEVELOPMENTSTEVEN 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. ..
- Endosomal-Lysosomal Function in Neuronal Storage DiseaseSTEVEN UPSHAW WALKLEY; Fiscal Year: 2010..abstract_text> ..