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Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
Author / Creator:Limgala, Renuka Pudi ; Furtak, Vyacheslav ; Ivanova, Margarita M. ; Changsila, Erk ; Wilks, Floyd ; Fidelia‐Lambert, Marie N. ; Goker‐Alpan, Ozlem ; Gondré‐Lewis, Marjorie C.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-05, Vol.59 (1), p.60-68
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Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases
Author / Creator:Ivanova, Margarita M ; Changsila, Erk ; Iaonou, Chidima ; Goker-Alpan, Ozlem
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-01, Vol.14 (1), p.e0210617-e0210617
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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Author / Creator:Germain, Dominique P ; Hughes, Derralynn A ; Nicholls, Kathleen ; Bichet, Daniel G ; Giugliani, Roberto ; Wilcox, William R ; Feliciani, Claudio ; Shankar, Suma P ; Ezgu, Fatih ; Amartino, Hernan ; Bratkovic, Drago ; Feldt-Rasmussen, Ulla ; Nedd, Khan ; Sharaf El Din, Usama ; Lourenco, Charles M ; Banikazemi, Maryam ; Charrow, Joel ; Dasouki, Majed ; Finegold, David ; Giraldo, Pilar ; Goker-Alpan, Ozlem ; Longo, Nicola ; Scott, C. Ronald ; Torra, Roser ; Tuffaha, Ahmad ; Jovanovic, Ana ; Waldek, Stephen ; Packman, Seymour ; Ludington, Elizabeth ; Viereck, Christopher ; Kirk, John ; Yu, Julie ; Benjamin, Elfrida R ; Johnson, Franklin ; Lockhart, David J ; Skuban, Nina ; Castelli, Jeff ; Barth, Jay ; Barlow, Carrolee ; Schiffmann, Raphael
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2016-08, Vol.375 (6), p.545-555
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A pilot study of omalizumab in eosinophilic esophagitis
Author / Creator:Loizou, Denise ; Enav, Benjamin ; Komlodi-Pasztor, Edina ; Hider, Pamela ; Kim-Chang, Julie ; Noonan, Laura ; Taber, Tabitha ; Kaushal, Suhasini ; Limgala, Renuka ; Brown, Margaret ; Gupta, Raavi ; Balba, Nader ; Goker-Alpan, Ozlem ; Khojah, Amer ; Alpan, Oral
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0113483-e0113483
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Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease
Author / Creator:Ivanova, Margarita M ; Dao, Julia ; Kasaci, Neil ; Adewale, Benjamin ; Nazari, Shaista ; Noll, Lauren ; Fikry, Jacqueline ; Sanati, Armaghan Hafez ; Goker-Alpan, Ozlem
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2021-10, Vol.16 (10), p.e0247211-e0247211
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Effect of Substrate Reduction Therapy in Comparison to Enzyme Replacement Therapy on Immune Aspects and Bone Involvement in Gaucher Disease
Author / Creator:Limgala, Renuka P ; Goker-Alpan, Ozlem
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2020-03, Vol.10 (4), p.526
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Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease
Author / Creator:Margarita M Ivanova ; Julia Dao ; Neil Kasaci ; Benjamin Adewale ; Shaista Nazari ; Lauren Noll ; Jacqueline Fikry ; Armaghan Hafez Sanati ; Ozlem Goker-Alpan
Publisher:Public Library of Science (PLoS)
Journal title:PloS one, 2021-10, Vol.16 (10), p.e0247211
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Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease
Author / Creator:Limgala, Renuka Pudi ; Ioanou, Chidima ; Plassmeyer, Matthew ; Ryherd, Mark ; Kozhaya, Lina ; Austin, Lauren ; Abidoglu, Cem ; Unutmaz, Derya ; Alpan, Oral ; Goker-Alpan, Ozlem
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-12, Vol.11 (12), p.e0168135-e0168135
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Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
Author / Creator:Warnock, David G ; Bichet, Daniel G ; Holida, Myrl ; Goker-Alpan, Ozlem ; Nicholls, Kathy ; Thomas, Mark ; Eyskens, Francois ; Shankar, Suma ; Adera, Mathews ; Sitaraman, Sheela ; Khanna, Richie ; Flanagan, John J ; Wustman, Brandon A ; Barth, Jay ; Barlow, Carrolee ; Valenzano, Kenneth J ; Lockhart, David J ; Boudes, Pol ; Johnson, Franklin K
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-08, Vol.10 (8), p.e0134341-e0134341
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Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy
Author / Creator:Ivanova, Margarita M. ; Dao, Julia ; Slayeh, Omar Abu ; Friedman, Andrew ; Goker-Alpan, Ozlem
Publisher:Basel: MDPI AG
Journal title:Cells (Basel, Switzerland), 2023-08, Vol.12 (16), p.2102
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The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease
Author / Creator:Ivanova, Margarita M ; Dao, Julia ; Loynab, Neala ; Noor, Sohailla ; Kasaci, Neil ; Friedman, Andrew ; Goker-Alpan, Ozlem
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2024-04, Vol.13 (8), p.716
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Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease
Author / Creator:Zheng, Wei ; Padia, Janak ; Urban, Daniel J ; Jadhav, Ajit ; Goker-Alpan, Ozlem ; Simeonov, Anton ; Goldin, Ehud ; Auld, Douglas ; LaMarca, Mary E ; Inglese, James ; Austin, Christopher P ; Sidransky, Ellen
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2007-08, Vol.104 (32), p.13192-13197
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Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy
Author / Creator:Ivanova, Margarita M ; Dao, Julia ; Kasaci, Neil ; Adewale, Benjamin ; Fikry, Jacqueline ; Goker-Alpan, Ozlem
Publisher:Switzerland: MDPI
Journal title:Biomolecules (Basel, Switzerland), 2020-05, Vol.10 (6), p.837
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Pregnancy Outcomes in Late Onset Pompe Disease
Author / Creator:Goker-Alpan, Ozlem ; Kasturi, Vellore G. ; Sohi, Maninder K. ; Limgala, Renuka P. ; Austin, Stephanie L. ; Jennelle, Tabitha ; Banikazemi, Maryam ; Kishnani, Priya S.
Publisher:Basel: MDPI AG
Journal title:Life (Basel, Switzerland), 2020-09, Vol.10 (9), p.194
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Optimal therapy in Gaucher disease
Author / Creator:Goker-Alpan, Ozlem
Publisher:New Zealand: Taylor & Francis Ltd
Journal title:Therapeutics and clinical risk management, 2010-01, Vol.6 (default), p.315-323
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Gaucher disease and the synucleinopathies
Author / Creator:Hruska, Kathleen S ; Goker-Alpan, Ozlem ; Sidransky, Ellen
Publisher:United States: John Wiley & Sons, Inc
Journal title:Journal of biomedicine & biotechnology, 2006, Vol.2006 (3), p.78549-78549
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Gaucher mutation N188S is associated with myoclonic epilepsy
Author / Creator:Kowarz, Laurence ; Goker-Alpan, Ozlem ; Banerjee-Basu, Sharmila ; LaMarca, Mary E. ; Kinlaw, Leah ; Schiffmann, Raphael ; Baxevanis, Andreas D. ; Sidransky, Ellen
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-09, Vol.26 (3), p.271-273
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Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials
Author / Creator:Elstein, Deborah ; Belmatoug, Nadia ; Deegan, Patrick ; Göker-Alpan, Özlem ; Hughes, Derralynn A ; Schwartz, Ida Vanessa D ; Weinreb, Neal ; Bonner, Nicola ; Panter, Charlotte ; Fountain, Donna ; Lenny, Andrew ; Longworth, Louise ; Miller, Rachael ; Shah, Koonal ; Schenk, Jörn ; Sen, Rohini ; Zimran, Ari
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2022-01, Vol.17 (1), p.9-9, Article 9
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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Author / Creator:Hughes, Derralynn A ; Nicholls, Kathleen ; Shankar, Suma P ; Sunder-Plassmann, Gere ; Koeller, David ; Nedd, Khan ; Vockley, Gerard ; Hamazaki, Takashi ; Lachmann, Robin ; Ohashi, Toya ; Olivotto, Iacopo ; Sakai, Norio ; Deegan, Patrick ; Dimmock, David ; Eyskens, François ; Germain, Dominique P ; Goker-Alpan, Ozlem ; Hachulla, Eric ; Jovanovic, Ana ; Lourenco, Charles M ; Narita, Ichiei ; Thomas, Mark ; Wilcox, William R ; Bichet, Daniel G ; Schiffmann, Raphael ; Ludington, Elizabeth ; Viereck, Christopher ; Kirk, John ; Yu, Julie ; Johnson, Franklin ; Boudes, Pol ; Benjamin, Elfrida R ; Lockhart, David J ; Barlow, Carrolee ; Skuban, Nina ; Castelli, Jeffrey P ; Barth, Jay ; Feldt-Rasmussen, Ulla
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2017-04, Vol.54 (4), p.288-296
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Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders
Author / Creator:Goker-Alpan, Ozlem ; Stubblefield, Barbara K. ; Giasson, Benoit I. ; Sidransky, Ellen
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2010-11, Vol.120 (5), p.641-649
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Showing 1 to 20 of 54 results

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Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

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

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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

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A pilot study of omalizumab in eosinophilic esophagitis

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Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease

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Effect of Substrate Reduction Therapy in Comparison to Enzyme Replacement Therapy on Immune Aspects and Bone Involvement in Gaucher Disease

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Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease

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Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease

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Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

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Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy

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The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease

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

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Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy

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Pregnancy Outcomes in Late Onset Pompe Disease

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Optimal therapy in Gaucher disease

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Gaucher disease and the synucleinopathies

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Gaucher mutation N188S is associated with myoclonic epilepsy

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Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

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

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