Ellen Sidransky

Ellen Sidransky

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Ellen Sidransky

Ellen Sidransky

Publications by authors named "Ellen Sidransky"

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Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse?

Trends Neurosci 2019 Sep 6;42(9):631-643. Epub 2019 Jul 6.

Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA. Electronic address:

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http://dx.doi.org/10.1016/j.tins.2019.05.010DOI Listing
September 2019

GBA1-associated parkinsonism: new insights and therapeutic opportunities.

Curr Opin Neurol 2019 Aug;32(4):589-596

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/WCO.0000000000000715DOI Listing
August 2019

Glucocerebrosidase and its relevance to Parkinson disease.

Mol Neurodegener 2019 Aug 29;14(1):36. Epub 2019 Aug 29.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35A, Room 1E623, 35 Convent Drive, MSC 3708, Bethesda, MD, 20892-3708, USA.

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http://dx.doi.org/10.1186/s13024-019-0336-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716912PMC
August 2019

Mutations, modifiers and epigenetics in Gaucher disease: Blurred boundaries between simple and complex disorders.

Mol Genet Metab 2019 Aug 20. Epub 2019 Aug 20.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.08.006DOI Listing
August 2019

Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.

Mol Genet Metab 2019 Jul 8;127(3):191-199. Epub 2019 Jun 8.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727642PMC
July 2019

C-terminal α-synuclein truncations are linked to cysteine cathepsin activity in Parkinson's disease.

J Biol Chem 2019 Jun 15;294(25):9973-9984. Epub 2019 May 15.

From the Laboratory of Protein Conformation and Dynamics, Biochemistry and Biophysics Center, National Heart, Lung, and Blood Institute and

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http://dx.doi.org/10.1074/jbc.RA119.008930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597809PMC
June 2019

Ophthalmological findings in Gaucher disease.

Mol Genet Metab 2019 05 15;127(1):23-27. Epub 2019 Feb 15.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192193007
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http://dx.doi.org/10.1016/j.ymgme.2019.02.002DOI Listing
May 2019

First Clinicogenetic Description of Parkinson's Disease Related to Mutation S107L.

Mov Disord Clin Pract 2019 Mar 7;6(3):254-258. Epub 2019 Mar 7.

Section of Neurology, Department of Clinical Neuroscience Karolinska Institute Stockholm Sweden.

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http://dx.doi.org/10.1002/mdc3.12743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417758PMC
March 2019

Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.

Biochem J 2019 01 25;476(2):261-274. Epub 2019 Jan 25.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, U.S.A.

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http://biochemj.org/lookup/doi/10.1042/BCJ20180708
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http://dx.doi.org/10.1042/BCJ20180708DOI Listing
January 2019

Exploring genetic modifiers of Gaucher disease: The next horizon.

Hum Mutat 2018 12 11;39(12):1739-1751. Epub 2018 Sep 11.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD.

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http://dx.doi.org/10.1002/humu.23611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240360PMC
December 2018

Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Mol Genet Metab 2018 09 28;125(1-2):1-3. Epub 2018 Jun 28.

Medical Genetics Branch NHGRI, NIH, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178817PMC
September 2018

ACE phenotyping in Gaucher disease.

Mol Genet Metab 2018 04 17;123(4):501-510. Epub 2018 Feb 17.

Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2018.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891352PMC
April 2018

Recent advances in the diagnosis and management of Gaucher disease.

Expert Rev Endocrinol Metab 2018 03 12;13(2):107-118. Epub 2018 Mar 12.

a Medical Genetics Branch , NHGRI, NIH , Bethesda , MD , USA.

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http://dx.doi.org/10.1080/17446651.2018.1445524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6129380PMC
March 2018

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Am J Med Genet A 2017 Dec 1;173(12):3211-3215. Epub 2017 Nov 1.

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787391PMC
December 2017

The role of epigenetics in lysosomal storage disorders: Uncharted territory.

Mol Genet Metab 2017 11 1;122(3):10-18. Epub 2017 Aug 1.

Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.012DOI Listing
November 2017

Gaucher disease: Progress and ongoing challenges.

Mol Genet Metab 2017 Jan - Feb;120(1-2):8-21. Epub 2016 Nov 17.

Medical Genetics Branch, NHGRI, NIH, Bldg 35A Room 1E623, 35 Convent Drive, Bethesda, MD 20892, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425955PMC
August 2017

Induced pluripotent stem cell models of lysosomal storage disorders.

Dis Model Mech 2017 06;10(6):691-704

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA

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http://dx.doi.org/10.1242/dmm.029009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5483008PMC
June 2017

Efferocytosis is impaired in Gaucher macrophages.

Haematologica 2017 04 23;102(4):656-665. Epub 2016 Dec 23.

Section of Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, MD, USA

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http://dx.doi.org/10.3324/haematol.2016.155093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395106PMC
April 2017

The Spectrum of Neurological Manifestations Associated with Gaucher Disease.

Diseases 2017 Mar 2;5(1). Epub 2017 Mar 2.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35A Room 1E623, 35A Convent Drive, Bethesda, MD 20892-3708, USA.

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http://www.mdpi.com/2079-9721/5/1/10
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http://dx.doi.org/10.3390/diseases5010010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456331PMC
March 2017

The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.

Neuron 2017 Feb;93(4):737-746

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5327952PMC
February 2017

Chaperoning glucocerebrosidase: a therapeutic strategy for both Gaucher disease and Parkinsonism.

Neural Regen Res 2016 Nov;11(11):1760-1761

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.4103/1673-5374.194717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5204226PMC
November 2016

Clinical studies of GBA1-associated parkinsonism: progress and challenges.

Neurodegener Dis Manag 2016 ;6(1):1-4

Section of Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.2217/nmt.15.68DOI Listing
October 2016

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.

Neurol Genet 2016 Oct 8;2(5):e104. Epub 2016 Sep 8.

Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017539PMC
October 2016

Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

J Neurosci 2016 07;36(29):7693-706

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, MassGeneral Institute for Neurodegeneration, Charlestown, Massachusetts 02129, The Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago IL 60611,

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http://dx.doi.org/10.1523/JNEUROSCI.0628-16.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4951575PMC
July 2016

Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells.

Mol Genet Metab 2016 May 28;118(1):55-9. Epub 2016 Feb 28.

Section of Molecular Neurogenetics, National Human Genome Research Institute, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.02.008DOI Listing
May 2016

Once again, rare diseases provide a spotlight.

Mol Genet Metab 2016 May 5;118(1):1-2. Epub 2016 Mar 5.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446090PMC
May 2016

Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease.

Expert Rev Proteomics 2016 05 21;13(5):471-9. Epub 2016 Apr 21.

a Section on Molecular Neurogenetics, Medical Genetics Branch , National Human Genome Research Institute, NIH , Bethesda , MD , USA.

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http://dx.doi.org/10.1080/14789450.2016.1174583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381920PMC
May 2016

Clinical course and prognosis in patients with Gaucher disease and parkinsonism.

Neurol Genet 2016 Apr 4;2(2):e57. Epub 2016 Mar 4.

Section on Molecular Neurogenetics (G.L., J.K., E.W., D.C., C.G., N.T., O.G.-A., E.S.), Medical Genetics Branch, NHGRI, NIH, Bethesda, MD; Yale School of Medicine (P.K.M.), New Haven, CT; Mater Misericordiae University Hospital (G.M.P.), Dublin, Ireland; Gaucher Clinic (A.Z.), Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel; and Lysosomal Disorders Research & Treatment Unit (O.G.-A.), O & O Alpan LLC, Fairfax, VA.

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http://dx.doi.org/10.1212/NXG.0000000000000057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830189PMC
April 2016

A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.

J Biotechnol 2016 Mar 18;221:1-12. Epub 2016 Jan 18.

Research Service, Veterans Affairs Maryland Health Care Service, Baltimore, MD, USA; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.jbiotec.2016.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381155PMC
March 2016

Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.

Aging Cell 2016 Feb 21;15(1):77-88. Epub 2015 Oct 21.

Section of Molecular Neurogenetics, National Human Genome Research Institute, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1111/acel.12409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717273PMC
February 2016

Bilateral Femoral Osteolytic Lesions in a Patient with Type 3 Gaucher Disease.

Mol Genet Metab Rep 2015 Dec;5:107-109

Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2015.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683618PMC
December 2015

Applications of iPSC-derived models of Gaucher disease.

Ann Transl Med 2015 Nov;3(19):295

Section of Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3978/j.issn.2305-5839.2015.10.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671880PMC
November 2015

Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.

RNA Biol 2014 ;11(10):1291-300

a Section on Molecular Neurogenetics; Medical Genetics Branch; National Human Genome Research Institute; National Institutes of Health ; Bethesda , MD USA.

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http://www.tandfonline.com/doi/full/10.1080/15476286.2014.99
Publisher Site
http://dx.doi.org/10.1080/15476286.2014.996085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4615671PMC
September 2015

Deficient vesicular storage: A common theme in catecholaminergic neurodegeneration.

Parkinsonism Relat Disord 2015 Sep 17;21(9):1013-22. Epub 2015 Jul 17.

Department of Internal Medicine, Chaim Sheba Medical Center, Tel-HaShomer, and Sackler Faculty of Medicine, Tel-Aviv University School of Medicine, Tel-Avid, Israel.

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http://dx.doi.org/10.1016/j.parkreldis.2015.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554767PMC
September 2015

Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.

Stem Cells Transl Med 2015 Aug 10;4(8):878-86. Epub 2015 Jun 10.

Department of Microbiology and Immunology and Division of Biostatistics and Bioinformatics, Department of Epidemiology and Public Health, University of Maryland School of Medicine, Baltimore, Maryland, USA; Division of Pediatric Oncology, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA

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http://dx.doi.org/10.5966/sctm.2014-0213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511143PMC
August 2015

The clinical management of Type 2 Gaucher disease.

Mol Genet Metab 2015 Feb 14;114(2):110-122. Epub 2014 Nov 14.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312716PMC
February 2015

Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C.

Biochem Biophys Res Commun 2015 Feb 17;457(4):561-6. Epub 2015 Jan 17.

Laboratory of Molecular Biophysics, Biochemistry and Biophysics Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda MD 20892, United States. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2015.01.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361889PMC
February 2015

New macrophage models of Gaucher disease offer new tools for drug development.

Macrophage (Houst) 2015;2(1):e712

Section of Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469193PMC
January 2015

Glucocerebrosidase is shaking up the synucleinopathies.

Brain 2014 May 14;137(Pt 5):1304-22. Epub 2014 Feb 14.

1 Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35 Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1093/brain/awu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999712PMC
May 2014

Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.

Mol Genet Metab 2014 Feb 11;111(2):84-91. Epub 2013 Dec 11.

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924958PMC
February 2014

Saposin C protects glucocerebrosidase against α-synuclein inhibition.

Biochemistry 2013 Oct 1;52(41):7161-3. Epub 2013 Oct 1.

Laboratory of Molecular Biophysics, Biochemistry and Biophysics Center, National Heart, Lung, and Blood Institute, and ‡Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health , Bethesda, Maryland 20892, United States.

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http://dx.doi.org/10.1021/bi401191vDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833811PMC
October 2013

Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data.

Mol Genet Metab 2013 Apr 29;108(4):269-71. Epub 2013 Jan 29.

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606890PMC
April 2013

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

Eur J Hum Genet 2013 Jan 20;21(1):115-7. Epub 2012 Jun 20.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1038/ejhg.2012.105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522207PMC
January 2013

Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.

Mol Genet Metab 2013 Jan 28;108(1):56-64. Epub 2012 Nov 28.

Laboratory of Molecular Biophysics, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552326PMC
January 2013

The link between the GBA gene and parkinsonism.

Lancet Neurol 2012 Nov;11(11):986-98

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S147444221270190
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http://dx.doi.org/10.1016/S1474-4422(12)70190-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141416PMC
November 2012

Gaucher disease: insights from a rare Mendelian disorder.

Authors:
Ellen Sidransky

Discov Med 2012 Oct;14(77):273-81

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141347PMC
October 2012

Discovery of a novel noniminosugar acid α glucosidase chaperone series.

J Med Chem 2012 Sep 17;55(17):7546-59. Epub 2012 Aug 17.

NIH Chemical Genomics Center, NIH Center for Translational Therapeutics, National Center for Advancing Translational Sciences, National Institutes of Health, 9800 Medical Center Drive, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1021/jm3005543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448374PMC
September 2012

The role of saposin C in Gaucher disease.

Mol Genet Metab 2012 Jul 5;106(3):257-63. Epub 2012 May 5.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921200167
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http://dx.doi.org/10.1016/j.ymgme.2012.04.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534739PMC
July 2012

High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase.

PLoS One 2012 17;7(1):e29861. Epub 2012 Jan 17.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0029861PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260169PMC
June 2012

Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase.

J Med Chem 2012 Jun 8;55(12):5734-48. Epub 2012 Jun 8.

NIH Chemical Genomic Center, National Center for Advancing Translation Sciences, National Institutes of Health, 9800 Medical Center Drive, Rockville, Maryland, United States.

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http://dx.doi.org/10.1021/jm300063bDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400126PMC
June 2012

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations.

Mol Genet Metab 2011 Sep-Oct;104(1-2):185-8. Epub 2011 Jun 17.

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352315PMC
January 2012

A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide.

Anal Bioanal Chem 2012 Jan 28;402(2):731-9. Epub 2011 Oct 28.

NIH Chemical Genomics Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3370, USA.

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http://dx.doi.org/10.1007/s00216-011-5496-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351006PMC
January 2012

Non-iminosugar glucocerebrosidase small molecule chaperones.

Medchemcomm 2012 Jan 24;3(1):56-60. Epub 2011 Oct 24.

NIH Chemical Genomics Center, National Human Genome Research Institute, National Institutes of Health, 9800 Medical Center Drive, Rockville, 20850, MD, USA.

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http://dx.doi.org/10.1039/C1MD00200GDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351140PMC
January 2012

Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease.

Skeletal Radiol 2011 Dec 20;40(12):1611-5. Epub 2011 Sep 20.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1007/s00256-011-1260-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3348707PMC
December 2011

Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.

Mol Genet Metab 2011 Dec 16;104(4):631-6. Epub 2011 Sep 16.

Department of Dermatology, VA Medical Center & University of California, San Francisco, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224209PMC
December 2011

Mucolipidosis type IV: an update.

Mol Genet Metab 2011 Nov 16;104(3):206-13. Epub 2011 Jun 16.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205274PMC
November 2011

A mutation in SCARB2 is a modifier in Gaucher disease.

Hum Mutat 2011 Nov 15;32(11):1232-8. Epub 2011 Sep 15.

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892-3708, USA.

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http://dx.doi.org/10.1002/humu.21566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196787PMC
November 2011

Selective extraction and effective separation of galactosylsphingosine (psychosine) and glucosylsphingosine from other glycosphingolipids in pathological tissue samples.

Neurochem Res 2011 Sep 7;36(9):1612-22. Epub 2010 Dec 7.

Department of Biochemistry, Tulane University School of Medicine, 1430 Tulane Avenue, SL-43, New Orleans, LA 70112, USA.

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http://dx.doi.org/10.1007/s11064-010-0348-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340580PMC
September 2011

Exploring the link between glucocerebrosidase mutations and parkinsonism.

Trends Mol Med 2011 Sep 1;17(9):485-93. Epub 2011 Jul 1.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S14714914110008
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http://dx.doi.org/10.1016/j.molmed.2011.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351003PMC
September 2011

Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases.

J Biol Chem 2011 Aug 8;286(32):28080-8. Epub 2011 Jun 8.

Laboratory of Molecular Biophysics, National Heart Lung and Blood Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1074/jbc.M111.237859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3151053PMC
August 2011

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.

Cell 2011 Jul 23;146(1):37-52. Epub 2011 Jun 23.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, MassGeneral Institute for Neurodegenerative Disease, Charlestown, MA 02129, USA.

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http://dx.doi.org/10.1016/j.cell.2011.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132082PMC
July 2011

Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.

J Mol Diagn 2011 Jul;13(4):401-5

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2011.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123786PMC
July 2011

Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.

J Med Chem 2011 Feb 20;54(4):1033-58. Epub 2011 Jan 20.

NIH Chemical Genomic Center, National Human Genome Research Institute, National Institutes of Health, 9800 Medical Center Drive, Rockville, Maryland, United States.

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http://dx.doi.org/10.1021/jm1008902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103057PMC
February 2011

Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases.

Blood Cells Mol Dis 2011 Jan 16;46(1):88-91. Epub 2010 Sep 16.

Department of Immuno-hematology, Faculty of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.

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http://dx.doi.org/10.1016/j.bcmd.2010.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352325PMC
January 2011

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.

Acta Neuropathol 2010 Nov 14;120(5):641-9. Epub 2010 Sep 14.

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD 20892-3708, USA.

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http://link.springer.com/10.1007/s00401-010-0741-7
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352317PMC
November 2010

Psychiatric and behavioral manifestations of lysosomal storage disorders.

Am J Med Genet B Neuropsychiatr Genet 2010 Oct;153B(7):1253-65

Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.b.31097DOI Listing
October 2010

Autosomal recessive mutations in the development of Parkinson's disease.

Biomark Med 2010 Oct;4(5):713-21

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.2217/bmm.10.96DOI Listing
October 2010

Fabry disease - current treatment and new drug development.

Curr Chem Genomics 2010 Jul 23;4:50-6. Epub 2010 Jul 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3708, Bethesda, MD 20894-3708, USA.

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http://dx.doi.org/10.2174/1875397301004010050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995157PMC
July 2010

False-positive results using a Gaucher diagnostic kit--RecTL and N370S.

Mol Genet Metab 2010 May 4;100(1):100-2. Epub 2010 Jan 4.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854310PMC
May 2010

Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.

Eur J Med Chem 2010 May 1;45(5):1880-97. Epub 2010 Feb 1.

NIH Chemical Genomic Center, National Human Genome Research Institute, National Institutes of Heath, 9800 Medical Center Drive, Rockville, MD, USA.

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http://dx.doi.org/10.1016/j.ejmech.2010.01.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892120PMC
May 2010

The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.

Curr Neurol Neurosci Rep 2010 May;10(3):190-8

Section on Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, 35 Convent Drive, MSC 3708, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s11910-010-0102-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529411PMC
May 2010

In silico and functional studies of the regulation of the glucocerebrosidase gene.

Mol Genet Metab 2010 Mar 4;99(3):275-82. Epub 2009 Nov 4.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.10.189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827879PMC
March 2010

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.

Blood Cells Mol Dis 2009 Nov-Dec;43(3):294-7. Epub 2009 Sep 5.

Department of Pediatrics, Barzilai Medical Center, Ashkelon, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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http://dx.doi.org/10.1016/j.bcmd.2009.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355376PMC
December 2009

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.

Mov Disord 2009 Aug;24(11):1571-8

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892-3708, USA.

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http://doi.wiley.com/10.1002/mds.22538
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http://dx.doi.org/10.1002/mds.22538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736332PMC
August 2009

Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.

Anal Bioanal Chem 2009 Aug 13;394(7):1903-9. Epub 2009 Jun 13.

Imaging Probe Development Center, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1007/s00216-009-2879-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756488PMC
August 2009

A new resorufin-based alpha-glucosidase assay for high-throughput screening.

Anal Biochem 2009 Jul 14;390(1):79-84. Epub 2009 Apr 14.

NIH Chemical Genomics Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ab.2009.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737366PMC
July 2009

Lysosomal storage disorders in the newborn.

Pediatrics 2009 Apr;123(4):1191-207

Office of the Clinical Director, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Dr, MSC 3708, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1542/peds.2008-0635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768319PMC
April 2009

Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?

Genet Med 2009 Feb;11(2):90-1

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181928f6aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2764305PMC
February 2009