Steven U Walkley

Steven U Walkley

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Steven U Walkley

Steven U Walkley

Publications by authors named "Steven U Walkley"

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Current concepts in the neuropathogenesis of mucolipidosis type IV.

J Neurochem 2019 03 30;148(5):669-689. Epub 2018 Aug 30.

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1111/jnc.14462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6239999PMC
March 2019

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.

Neurobiol Dis 2017 Sep 10;105:257-270. Epub 2017 Jun 10.

Dominick P. Purpura Dept. of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555164PMC
September 2017

Niemann-Pick disease, type C and Roscoe Brady.

Mol Genet Metab 2017 Jan - Feb;120(1-2):34-37. Epub 2016 Nov 29.

Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, New York, NY, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192163032
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http://dx.doi.org/10.1016/j.ymgme.2016.11.008DOI Listing
August 2017

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Orphanet J Rare Dis 2016 12 1;11(1):161. Epub 2016 Dec 1.

Diabetic Cardiovascular Disease Center, Washington University School of Medicine, Box 8086, 660 S. Euclid Ave, St. Louis, MO, 63110, USA.

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http://dx.doi.org/10.1186/s13023-016-0540-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131440PMC
December 2016

Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease.

Ann Clin Transl Neurol 2016 05 20;3(5):366-80. Epub 2016 Apr 20.

Dominick P. Purpura Department of Neuroscience Rose F. Kennedy Center Intellectual and Developmental Disabilities Research Center Albert Einstein College of Medicine Bronx New York 10461.

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http://dx.doi.org/10.1002/acn3.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863749PMC
May 2016

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.

Dis Model Mech 2016 Jan 29;9(1):13-23. Epub 2015 Oct 29.

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA

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http://dmm.biologists.org/lookup/doi/10.1242/dmm.022780
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http://dx.doi.org/10.1242/dmm.022780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728337PMC
January 2016

Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits.

Brain 2014 Dec 29;137(Pt 12):3300-18. Epub 2014 Sep 29.

1 Centre for Dementia Research, Nathan Kline Institute, 140 Old Orangeburg Road, Orangeburg, NY 10962, USA 2 Department of Psychiatry, New York University Langone Medical Centre, 550 First Avenue, New York, NY 10016, USA 5 Department of Cell Biology, New York University Langone Medical Centre, 550 First Avenue, New York, NY 10016, USA

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http://dx.doi.org/10.1093/brain/awu278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240291PMC
December 2014

Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers.

Orphanet J Rare Dis 2014 Sep 20;9:149. Epub 2014 Sep 20.

Department of Pediatrics, The Sheryl and Daniel R, Tishman Cognitive Neurophysiology Laboratory, Children's Evaluation and Rehabilitation Center (CERC), Albert Einstein College of Medicine & Montefiore Medical Center, Van Etten Building - Wing 1C, 1225 Morris Park Avenue, Bronx 10461, NY, USA.

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http://dx.doi.org/10.1186/s13023-014-0149-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173006PMC
September 2014

Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease.

J Neurosci 2013 Jun;33(26):10815-27

The Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.0987-13.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3693058PMC
June 2013

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Hum Mol Genet 2012 Aug 22;21(16):3632-46. Epub 2012 May 22.

Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, US Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/dds193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406758PMC
August 2012

Autophagy in lysosomal storage disorders.

Autophagy 2012 May 1;8(5):719-30. Epub 2012 May 1.

Department of Pathology, University of Michigan Medical School, Ann Arbor, MI USA.

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http://dx.doi.org/10.4161/auto.19469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378416PMC
May 2012

Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats.

Pediatr Res 2012 Jan;71(1):39-45

Lysosomal Diseases Research Unit, Research Centre of SA Pathology, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/pr.2011.13DOI Listing
January 2012

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.

Brain 2011 Nov 29;134(Pt 11):3369-83. Epub 2011 Sep 29.

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Centre, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1093/brain/awr250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3212719PMC
November 2011

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.

Am J Pathol 2011 Aug 2;179(2):890-902. Epub 2011 Jun 2.

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000294401100423
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http://dx.doi.org/10.1016/j.ajpath.2011.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157170PMC
August 2011

Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy.

Biochem Soc Trans 2010 Dec;38(6):1436-41

Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1042/BST0381436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406245PMC
December 2010

Macroautophagy is defective in mucolipin-1-deficient mouse neurons.

Neurobiol Dis 2010 Nov 28;40(2):370-7. Epub 2010 Jun 28.

Center for Human Genetic Research, Massachusetts General Hospital/Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.nbd.2010.06.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392647PMC
November 2010

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression.

PLoS One 2009 Sep 11;4(9):e6951. Epub 2009 Sep 11.

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.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0006951PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736622PMC
September 2009

Secondary lipid accumulation in lysosomal disease.

Biochim Biophys Acta 2009 Apr 9;1793(4):726-36. Epub 2008 Dec 9.

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY, USA.

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http://dx.doi.org/10.1016/j.bbamcr.2008.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382014PMC
April 2009

Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

J Neuropathol Exp Neurol 2009 Feb;68(2):125-35

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, USA.

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http://dx.doi.org/10.1097/NEN.0b013e3181942cf0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4232971PMC
February 2009

Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease.

Am J Pathol 2009 Jan 4;174(1):14-20. Epub 2008 Dec 4.

Department of Biochemistry and Molecular Biology, Thoracic Diseases Research Unit, Mayo Clinic College of Medicine, Rochester, Minnesota 55905-0001, USA.

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http://dx.doi.org/10.2353/ajpath.2009.080660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2631314PMC
January 2009

Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV.

Am J Hum Genet 2007 Nov 2;81(5):1070-83. Epub 2007 Oct 2.

Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1086/521954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265643PMC
November 2007

Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis.

J Neuropathol Exp Neurol 2007 Aug;66(8):687-97

Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children, Youth and Women's Health Service, North Adelaide, SA, Australia.

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http://dx.doi.org/10.1097/nen.0b013e31812503b6DOI Listing
August 2007

Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome.

Authors:
Steven U Walkley

Acta Paediatr 2007 Apr;96(455):26-32

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.

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http://doi.wiley.com/10.1111/j.1651-2227.2007.00202.x
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http://dx.doi.org/10.1111/j.1651-2227.2007.00202.xDOI Listing
April 2007

Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease.

Proc Natl Acad Sci U S A 2006 Sep 29;103(37):13807-12. Epub 2006 Aug 29.

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.

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http://dx.doi.org/10.1073/pnas.0606218103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1564205PMC
September 2006

Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage.

FASEB J 2005 Sep 22;19(11):1558-60. Epub 2005 Jun 22.

Department of Biochemistry and Molecular Biology Mayo Clinic and Foundation Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1096/fj.04-2714fjeDOI Listing
September 2005

Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders.

J Comp Neurol 2004 Dec;480(4):415-26

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.

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http://dx.doi.org/10.1002/cne.20355DOI Listing
December 2004

Consequences of NPC1 and NPC2 loss of function in mammalian neurons.

Biochim Biophys Acta 2004 Oct;1685(1-3):48-62

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.

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http://linkinghub.elsevier.com/retrieve/pii/S138819810400134
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http://dx.doi.org/10.1016/j.bbalip.2004.08.011DOI Listing
October 2004

Secondary accumulation of gangliosides in lysosomal storage disorders.

Authors:
Steven U Walkley

Semin Cell Dev Biol 2004 Aug;15(4):433-44

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.

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http://linkinghub.elsevier.com/retrieve/pii/S108495210400032
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http://dx.doi.org/10.1016/j.semcdb.2004.03.002DOI Listing
August 2004

Targeted mutation of the MLN64 START domain causes only modest alterations in cellular sterol metabolism.

J Biol Chem 2004 Apr 12;279(18):19276-85. Epub 2004 Feb 12.

Center for Research on Reproduction and Women's Health, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1074/jbc.M400717200DOI Listing
April 2004

Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent.

Curr Biol 2003 Aug;13(15):1324-9

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.

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http://dx.doi.org/10.1016/s0960-9822(03)00531-1DOI Listing
August 2003

Neurobiology and cellular pathogenesis of glycolipid storage diseases.

Authors:
Steven U Walkley

Philos Trans R Soc Lond B Biol Sci 2003 May;358(1433):893-904

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.

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http://dx.doi.org/10.1098/rstb.2003.1276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1693176PMC
May 2003

Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene.

Hum Mol Genet 2002 Nov;11(24):3107-14

National Human Genome Research Institute, Genetic Disease Research Branch, National Institutes of Health, 49 Convent Drive, Building 49, Bethesda, MD 20892, USA.

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http://hmg.oxfordjournals.org/content/11/24/3107.full.pdf
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http://dx.doi.org/10.1093/hmg/11.24.3107DOI Listing
November 2002