Ozlem Goker-Alpan

Ozlem Goker-Alpan

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Ozlem Goker-Alpan

Ozlem Goker-Alpan

Publications by authors named "Ozlem Goker-Alpan"

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Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases.

PLoS One 2019 11;14(1):e0210617. Epub 2019 Jan 11.

Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0210617PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329517PMC
November 2019

Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines.

Am J Transl Res 2018 15;10(11):3750-3761. Epub 2018 Nov 15.

Lysosomal and Rare Disorders Research and Treatment Center 3959 Pender Drive, Ste 100, Fairfax, VA 22030, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291725PMC
November 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

Enzyme replacement therapy reverses B lymphocyte and dendritic cell dysregulations in patients with Gaucher Disease.

Blood Cells Mol Dis 2018 02 28;68:81-85. Epub 2016 Oct 28.

Lysosomal and Rare Disorders Research and Treatment Center, 11212 Waples Mill Rd, Ste 103, Fairfax, VA 22030, USA.

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http://dx.doi.org/10.1016/j.bcmd.2016.10.015DOI Listing
February 2018

Gaucheromas: When macrophages promote tumor formation and dissemination.

Blood Cells Mol Dis 2018 02 27;68:100-105. Epub 2016 Oct 27.

Lysosomal and Rare Disorders Research and Treatment Center, 11212 Waples Mill Rd, Ste 103, Fairfax, VA, USA; O&O Alpan, LLC, 11212 Waples Mill Rd, Ste 100, Fairfax, VA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.10.018DOI Listing
February 2018

Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.

Blood Cells Mol Dis 2018 02 20;68:226-231. Epub 2016 Oct 20.

Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.10.003DOI Listing
February 2018

New Directions in Gaucher Disease.

Hum Mutat 2016 11 21;37(11):1121-1136. Epub 2016 Aug 21.

Lysosomal Disorders Unit, O&O ALPAN LLC, Fairfax, Virginia.

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http://dx.doi.org/10.1002/humu.23056DOI Listing
November 2016

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

N Engl J Med 2016 Aug;375(6):545-55

From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

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http://dx.doi.org/10.1056/NEJMoa1510198DOI Listing
August 2016

Persistent immune alterations and comorbidities in splenectomized patients with Gaucher disease.

Blood Cells Mol Dis 2016 07 15;59:8-15. Epub 2016 Feb 15.

Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), Fairfax, VA 22030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.02.003DOI Listing
July 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 pilot study of omalizumab in eosinophilic esophagitis.

PLoS One 2015 19;10(3):e0113483. Epub 2015 Mar 19.

Section on Immunopathogenesis, Food Allergy and Eosinophilic Disorders Program, O&O ALPAN, LLC, Fairfax, VA, United States of America; Amerimmune, Fairfax, VA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0113483PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366078PMC
February 2016

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

Mol Genet Metab 2016 Feb 7;117(2):95-103. Epub 2015 Sep 7.

University Research Foundation for Lysosomal Storage Diseases, Inc., 7367 Wexford Terrace, Boca Raton, FL 33433, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.09.002DOI Listing
February 2016

Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease.

J Obstet Gynaecol Res 2014 Apr 26;40(4):968-75. Epub 2014 Feb 26.

Gaucher Clinic, Shaare Zedek Medical Center, affiliated with the Hadassah Medical Center-Hebrew University Medical School, Jerusalem, Israel.

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http://doi.wiley.com/10.1111/jog.12254
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http://dx.doi.org/10.1111/jog.12254DOI Listing
April 2014

Commentary on "Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease" by Zimran et al.

Blood Cells Mol Dis 2013 Feb 18;50(2):138-9. Epub 2012 Oct 18.

Lysosomal Disorders Research and Treatment Unit, Center for Clinical Trials, O&O Alpan, Fairfax, VA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10799796120018
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http://dx.doi.org/10.1016/j.bcmd.2012.09.007DOI Listing
February 2013

Therapeutic approaches to bone pathology in Gaucher disease: past, present and future.

Mol Genet Metab 2011 Dec 11;104(4):438-47. Epub 2011 Aug 11.

Lysosomal Disorders Research and Treatment Unit, Center for Clinical Trials, Springfield, VA 22152, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192110025
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http://dx.doi.org/10.1016/j.ymgme.2011.08.004DOI Listing
December 2011

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

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

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://dx.doi.org/10.1007/s00401-010-0741-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352317PMC
November 2010

Optimal therapy in Gaucher disease.

Ther Clin Risk Manag 2010 Jul 21;6:315-23. Epub 2010 Jul 21.

Lysosomal Diseases Research and Treatment Unit, Center for Clinical Trials, O&O Alpan LLC, Springfield, VA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909498PMC
http://dx.doi.org/10.2147/tcrm.s6955DOI Listing
July 2010

Gaucher disease and the synucleinopathies.

J Biomed Biotechnol 2006 ;2006(3):78549

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/10.1155/JBB/2006/78549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1510950PMC
June 2010

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

Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening.

Comb Chem High Throughput Screen 2008 Dec;11(10):817-24

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668958PMC
http://dx.doi.org/10.2174/138620708786734244DOI Listing
December 2008

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

Arch Neurol 2008 Oct;65(10):1353-7

Section on Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, 35 Convent Dr, MSC 3708, Bldg 35, Room 1A213, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1001/archneur.65.10.1353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629407PMC
October 2008

Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.

J Pediatr 2008 Jul 14;153(1):89-94. Epub 2008 Feb 14.

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

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http://dx.doi.org/10.1016/j.jpeds.2007.12.023DOI Listing
July 2008

Treating patients with Gaucher disease and parkinsonism: misrepresentation in a title.

Parkinsonism Relat Disord 2008 9;14(1):81-2; author reply 83. Epub 2007 Mar 9.

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http://dx.doi.org/10.1016/j.parkreldis.2007.01.002DOI Listing
April 2008

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease.

Proc Natl Acad Sci U S A 2007 Aug 1;104(32):13192-7. Epub 2007 Aug 1.

NIH Chemical Genomics Center, National Human Genome Research Institute, National Institutes of Health, 9800 Medical Center Drive, MSC 3370, Bethesda, MD 20892-3370, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0705637104
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http://dx.doi.org/10.1073/pnas.0705637104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1936979PMC
August 2007

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.

Mol Genet Metab 2007 Jun 25;91(2):195-200. Epub 2007 Apr 25.

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

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http://dx.doi.org/10.1016/j.ymgme.2007.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950300PMC
June 2007

Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism.

Neurosci Lett 2006 Aug 15;404(1-2):163-5. Epub 2006 Jun 15.

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

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http://dx.doi.org/10.1016/j.neulet.2006.05.032DOI Listing
August 2006

Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.

Fetal Pediatr Pathol 2005 Jul-Oct;24(4-5):205-22

Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1080/15227950500405296DOI Listing
March 2006

Glucocerebrosidase mutations in subjects with parkinsonism.

Mol Genet Metab 2004 Jan;81(1):70-3

Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD 20892-4405, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.11.004DOI Listing
January 2004

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

Genet Med 2002 May-Jun;4(3):118-25

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bldg. 10, Room 10C103, 10 Center Drive, MSC 1875, Bethesda, MD 20892-1875, USA.

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http://dx.doi.org/10.1097/00125817-200205000-00004DOI Listing
August 2003

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

J Pediatr 2003 Aug;143(2):273-6

Section on Molecular Neurogenetics, NIMH/NIH, 49 Convent Drive, MSC 4405, Bethesda, MD 20892-4405, USA.

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http://dx.doi.org/10.1067/S0022-3476(03)00302-0DOI Listing
August 2003