Outstanding Research

Over the years, our LDRTC team has been generating innovative research to solve the challenges around lysosomal disorders. Below is our listing of over 40 publications that have revealed paths and processes for better treatment and understanding of these rare disorders.

List of Selected Publications with LDRTC

  1. Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. J Med Genet. 2023 Nov 8:jmg-2023-109445. doi: 10.1136/jmg-2023-109445. 
  1. Banerjee D, Ivanova MM, Celik N, Kim MH, Derman ID, Limgala RP, Ozbolat IT, Goker-Alpan O. Biofabrication of an in-vitro bone model for Gaucher disease. Biofabrication. 2023 Sep 22;15(4):045023. doi: 10.1088/1758-5090/acf95a. PMID: 37703870; PMCID: PMC10515412.
  1. Weinreb NJ, Goker-Alpan O. Ambroxol as Therapy for Gaucher Disease-Ambitious but Ambivalent. JAMA Netw Open. 2023 Jun 1;6(6):e2319336. doi: 10.1001/jamanetworkopen.2023.19336. PMID: 37342045. 
  1. Ivanova MM, Dao J, Slayeh OA, Friedman A, Goker-Alpan O. Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy. Cells. 2023 Aug 19;12(16):2102. doi: 10.3390/cells12162102. PMID: 37626912; PMCID: PMC10453505. 
  1. Hughes DA, Deegan P, Giraldo P, Göker-Alpan Ö, Lau H, Lukina E, Revel-Vilk S, Scarpa M, Botha J, Gadir N, Zimran A; GOS Steering Committee. Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).  Clin. Med.2022, 11, 5158". J Clin Med. 2023 Jun 13;12(12):4017. doi: 10.3390/jcm12124017. PMID: 37373710; PMCID: PMC10299381. 
  1. Auray-Blais C, Lavoie P, Martineau T, Ntumba GK, Gamrani M, Khan A, Altarescu G, Lehman A, Goker-Alpan O, Nowak A, West ML, Bichet DG. Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy. Bioanalysis. 2023 Dec;15(23):1421-1437. doi: 10.4155/bio-2023-0160. Epub 2023 Oct 17. PMID: 37847061. 
  1. Deegan, P.B., Goker-Alpan, O., Geberhiwot, T., Hopkin, R.J., Lukina, E., Tylki-Szymanska, A., Zaher, A., Sensinger, C., Gaemers, S.J., Modur, V. and Thurberg, B.L., 2023. Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. Molecular Genetics and Metabolism138(2), p.106963. 
  1. Bernat, J., Wallace, E., Goker-Alpan, O., Wilcox, W., Holida, M., Longo, N., Hughes, D., Giraldo, P., Molnar, M., Ortiz, D. and Hopkin, R., 2023. P005: Head-to-head trial of pegunigalsidase alfa vs agalsidase beta in Fabry disease: Phase 3 randomized, double-blind, BALANCE Study 2-year results. Genetics in Medicine Open1(1). 
  1. The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era. Gleason AM, D'Souza A, Ryan E, Grochowsky AR, Carter CR, Goker-Alpan O, Lopez G, Tayebi N, Sidransky E.Am J Med Genet A. 2023 Apr 12. doi: 10.1002/ajmg.a.63202. Online ahead of print.PMID: 37042183 
  1. Efficacy and Safety of Avalglucosidase Alfa in Patients with Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial. Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group.JAMA Neurol. 2023 Apr 10:e230552. doi: 10.1001/jamaneurol.2023.0552. Online ahead of print.PMID: 37036722 
  1. Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. Deegan PB, Goker-Alpan O, Geberhiwot T, Hopkin RJ, Lukina E, Tylki-Szymanska A, Zaher A, Sensinger C, Gaemers SJM, Modur V, Thurberg BL, Sharma J, Najafian B, Mauer M, DasMahapatra P, Wilcox WR, Germain DP.Mol Genet Metab. 2023 Feb;138(2):106963. doi: 10.1016/j.ymgme.2022.11.002. Epub 2022 Nov 9.PMID: 36481125 
  1. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). Hughes DA, Deegan P, Giraldo P, Göker-Alpan Ö, Lau H, Lukina E, Revel-Vilk S, Scarpa M, Botha J, Gadir N, Zimran A; GOS Steering Committee.J Clin Med. 2022 Aug 31;11(17):5158. doi: 10.3390/jcm11175158.PMID: 36079085 
  1. Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease. Horowitz M, Braunstein H, Zimran A, Revel-Vilk S, Goker-Alpan O. Adv Drug Deliv Rev. 2022 Aug;187:114402. doi: 10.1016/j.addr.2022.114402. Epub 2022 Jun 25.PMID: 35764179 Review. 
  1. Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease. Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B; NEO-EXT investigators.Neurology. 2022 May 26;99(5):e536-48. doi: 10.1212/WNL.0000000000200746. Online ahead of print.PMID: 35618441 
  1. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C.Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9.PMID: 35367141. Review.  
  1. Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials. Elstein D, Belmatoug N, Deegan P, Göker-Alpan Ö, Hughes DA, Schwartz IVD, Weinreb N, Bonner N, Panter C, Fountain D, Lenny A, Longworth L, Miller R, Shah K, Schenk J, Sen R, Zimran A.Orphanet J Rare Dis. 2022 Jan 6;17(1):9. doi: 10.1186/s13023-021-02163-y.PMID: 34991656 Free PMC article. 
  1. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus. Kishnani PS, Al-Hertani W, Balwani M, Göker-Alpan Ö, Lau HA, Wasserstein M, Weinreb NJ, Grabowski G. Mol Genet Metab. 2022 Feb;135(2):154-162. doi: 10.1016/j.ymgme.2021.12.009. Epub 2021 Dec 22.PMID: 34972655 
  1. Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease. Ivanova MM, Dao J, Kasaci N, Friedman A, Noll L, Goker-Alpan O.Front Endocrinol (Lausanne). 2022 Nov 24;13:1029130. doi: 10.3389/fendo.2022.1029130. eCollection 2022.PMID: 36506070 
  1. Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease. Ivanova MM, Dao J, Kasaci N, Adewale B, Nazari S, Noll L, Fikry J, Sanati AH, Goker-Alpan O.PLoS One. 2021 Oct 25;16(10):e0247211. doi: 10.1371/journal.pone.0247211. eCollection 2021.PMID: 34695170 
  1. TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease. Ivanova M, Dao J, Noll L, Fikry J, Goker-Alpan O.J Clin Med. 2021 May 20;10(10):2217. doi: 10.3390/jcm10102217.PMID: 34065531
  1. Ivanova MM, Changsila E, Iaonou C, Goker-Alpan Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases. PLoS One. 2019 Jan 11; 14(1):e0210617. doi:10.1371/journal.pone.0210617. eCollection 2019. 
  1. Ivanova MM, Erk Changsila, Alper Turgut, Ozlem Goker-Alpan. Individualized screening for chaperone activity in Gaucher disease using multiple patients derived primary cell lines. Am J Transl Res 2018; 10(11):3750-3761. 
  1. Ivanova M, Limgala RP, Changsila E, Kamath R, Ioanou C, Goker-Alpan O. Gaucheromas: When macrophages promote tumor formation and dissemination. Blood Cells Mol Dis. 2016 Oct 27. pii: S1079- 9796(16)30218-2. doi: 10.1016/j.bcmd.2016.10.018. 
  1. Ivanova MM, LimgalaRP, Changsila E , Ioanou C, Badger A , Goker-Alpan O: Gaucher disease is associated with lymph node reactive follicular hyperplasia with tingible body macrophages of M2 Int J Clin Exp Pathol 2017;10(2):2290-2297 
  1. Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. Limgala RP, Furtak V, Ivanova MM, Changsila E, Wilks F, Fidelia-Lambert MN, Goker-Alpan O, Gondré-Lewis MC.JIMD Rep. 2021 Jan 27;59(1):60-68. doi: 10.1002/jmd2.12201. eCollection 2021 May.PMID: 33977031 
  1. Gaucher Disease in Bone: From Pathophysiology to Practice. Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P.J Bone Miner Res. 2019 Jun;34(6):996-1013. doi: 10.1002/jbmr.3734. Epub 2019 Jun 24.PMID: 31233632 
  1. The definition of neuronopathic Gaucher disease. Schiffmann R, Sevigny J, Rolfs A, Davies EH, Goker-Alpan O, Abdelwahab M, Vellodi A, Mengel E, Lukina E, Yoo HW, Collin-Histed T, Narita A, Dinur T, Revel-Vilk S, Arkadir D, Szer J, Wajnrajch M, Ramaswami U, Sidransky E, Donald A, Zimran A.J Inherit Metab Dis. 2020 Sep;43(5):1056-1059. doi: 10.1002/jimd.12235. Epub 2020 Apr 3.PMID: 32242941 
  1. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E.Mol Genet Metab. 2020 Jul;130(3):164-169. doi: 10.1016/j.ymgme.2020.05.002. Epub 2020 May 11.PMID: 32471800 
  1. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.PMID: 27509102 
  1. Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative. Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Göker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A.Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156.PMID: 30414226 
  1. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10.PMID: 27834756 
  1. Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study. Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group.Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17.PMID: 30770310 
  1. Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial. Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette CJ, Maegawa G, Boyadjiev SA, Gonzalez D, Nicholls K, Tuffaha A, Atta MG, Rup B, Charney MR, Paz A, Szlaifer M, Alon S, Brill-Almon E, Chertkoff R, Hughes D.J Inherit Metab Dis. 2019 May;42(3):534-544. doi: 10.1002/jimd.12080. Epub 2019 Apr 8.PMID: 30834538 
  1. New Directions in Gaucher Disease. Horowitz M, Elstein D, Zimran A, Goker-Alpan O.Hum Mutat. 2016 Nov;37(11):1121-1136. doi: 10.1002/humu.23056. Epub 2016 Aug 21.PMID: 27449603 
  1. Pregnancy Outcomes in Late Onset Pompe Disease. Goker-Alpan O, Kasturi VG, Sohi MK, Limgala RP, Austin SL, Jennelle T, Banikazemi M, Kishnani PS.Life (Basel). 2020 Sep 11;10(9):194. doi: 10.3390/life10090194.PMID: 32932790 
  1. Detection of 12 new mutations in Gaucher disease Brazilian patients. Rozenberg R, Fox DC, Sobreira E, Pereira LV.Blood Cells Mol Dis. 2006 Nov-Dec;37(3):204-9. doi: 10.1016/j.bcmd.2006.09.004. Epub 2006 Oct 23.PMID: 17059888 The R329C mutation, previously described in a Parkinson's disease patient (A. Lwin, E. Orvisky, O. Goker-Alpan, M.E. LaMarca, E. Sidransky. Glucocerebrosidase mutations in subjects with Parkinsonism. 
  1. Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy. Ivanova MM, Dao J, Kasaci N, Adewale B, Fikry J, Goker-Alpan O. Biomolecules. 2020 May 30;10(6):837. doi: 10.3390/biom10060837.PMID: 32486191 
  1. ACE phenotyping in Gaucher disease. Danilov SM, Tikhomirova VE, Metzger R, Naperova IA, Bukina TM, Goker-Alpan O, Tayebi N, Gayfullin NM, Schwartz DE, Samokhodskaya LM, Kost OA, Sidransky E.Mol Genet Metab. 2018 Apr;123(4):501-510. doi: 10.1016/j.ymgme.2018.02.007. Epub 2018 Feb 17.PMID: 29478818 
  1. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L.Hum Mutat. 2020 Mar;41(3):632-640. doi: 10.1002/humu.23950. Epub 2019 Nov 25.PMID: 31696996 
  1. Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Goker-Alpan O.Mol Genet Metab. 2011 Dec;104(4):438-47. doi: 10.1016/j.ymgme.2011.08.004. Epub 2011 Aug 11.PMID: 21889384
  1. Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States. Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N.Mol Genet Metab. 2016 Feb;117(2):95-103. doi: 10.1016/j.ymgme.2015.09.002. Epub 2015 Sep 7.PMID: 26387627 
  1. Effect of Substrate Reduction Therapy in Comparison to Enzyme Replacement Therapy on Immune Aspects and Bone Involvement in Gaucher Disease. Limgala RP, Goker-Alpan O. Biomolecules. 2020 Mar 31;10(4):526. doi: 10.3390/biom10040526.PMID: 32244296 
  1. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E.Mov Disord. 2009 Aug 15;24(11):1571-8. doi: 10.1002/mds.22538.PMID: 19425057 
  1. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum. Eblan MJ, Goker-Alpan O, Sidransky E.Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. doi: 10.1080/15227950500405296.PMID: 16396828 
  1. The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease. Limgala RP, Fikry J, Veligatla V, Goker-Alpan O.Int J Mol Sci. 2020 Sep 29;21(19):7213. doi: 10.3390/ijms21197213.PMID: 33003611 
  1. Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease. Shen JS, Arning E, West ML, Day TS, Chen S, Meng XL, Forni S, McNeill N, Goker-Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T.Hum Mol Genet. 2017 Mar 15;26(6):1182-1192. doi: 10.1093/hmg/ddx032.PMID: 28158561 
  1. Optimal therapy in Gaucher disease. Goker-Alpan O.Ther Clin Risk Manag. 2010 Jul 21;6:315-23. doi: 10.2147/tcrm.s6955.PMID: 20668714 
  1. Gaucher disease and the synucleinopathies. Hruska KS, Goker-Alpan O, Sidransky E.J Biomed Biotechnol. 2006;2006(3):78549. doi: 10.1155/JBB/2006/78549.PMID: 17047314 
  1. Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases. Ivanova MM, Changsila E, Iaonou C, Goker-Alpan O.PLoS One. 2019 Jan 11;14(1):e0210617. doi: 10.1371/journal.pone.0210617. eCollection 2019.PMID: 30633777 
  1. Parkinsonism among Gaucher disease carriers. Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E.J Med Genet. 2004 Dec;41(12):937-40. doi: 10.1136/jmg.2004.024455.PMID: 15591280 
  1. A pilot study of omalizumab in eosinophilic esophagitis. Loizou D, Enav B, Komlodi-Pasztor E, Hider P, Kim-Chang J, Noonan L, Taber T, Kaushal S, Limgala R, Brown M, Gupta R, Balba N, Goker-Alpan O, Khojah A, Alpan O.PLoS One. 2015 Mar 19;10(3):e0113483. doi: 10.1371/journal.pone.0113483. eCollection 2015.PMID: 25789989 
  1. Gaucheromas: When macrophages promote tumor formation and dissemination. Ivanova M, Limgala RP, Changsila E, Kamath R, Ioanou C, Goker-Alpan O. Blood Cells Mol Dis. 2018 Feb;68:100-105. doi: 10.1016/j.bcmd.2016.10.018. Epub 2016 Oct 27.PMID: 27839983 
  1. Glucocerebrosidase mutations in subjects with parkinsonism. Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E.Mol Genet Metab. 2004 Jan;81(1):70-3. doi: 10.1016/j.ymgme.2003.11.004.PMID: 14728994  
  1. Persistent immune alterations and comorbidities in splenectomized patients with Gaucher disease. Sønder SU, Limgala RP, Ivanova MM, Ioanou C, Plassmeyer M, Marti GE, Alpan O, Goker-Alpan O. Blood Cells Mol Dis. 2016 Jul;59:8-15. doi: 10.1016/j.bcmd.2016.02.003. Epub 2016 Feb 15.PMID: 27282561  
  1. Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta. Limgala RP, Jennelle T, Plassmeyer M, Boutin M, Lavoie P, Abaoui M, Auray-Blais C, Nedd K, Alpan O, Goker-Alpan O. Am J Transl Res. 2019 Mar 15;11(3):1683-1696. eCollection 2019.PMID: 30972193 
  1. Enzyme replacement therapy reverses B lymphocyte and dendritic cell dysregulations in patients with Gaucher Disease. Limgala RP, Jani C, Ioanou C, Alpan O, Goker-Alpan O. Blood Cells Mol Dis. 2018 Feb;68:81-85. doi: 10.1016/j.bcmd.2016.10.015. Epub 2016 Oct 28.PMID: 27839980 
  1. Gaucher mutation N188S is associated with myoclonic epilepsy. Kowarz L, Goker-Alpan O, Banerjee-Basu S, LaMarca ME, Kinlaw L, Schiffmann R, Baxevanis AD, Sidransky E.Hum Mutat. 2005 Sep;26(3):271-3; author reply 274-5. doi: 10.1002/humu.20217.PMID: 16086325  
  1. Individualized screening for chaperone activity in Gaucher disease using multiple patients derived primary cell lines. Ivanova MM, Changsila E, Turgut A, Goker-Alpan O. Am J Transl Res. 2018 Nov 15;10(11):3750-3761. eCollection 2018.PMID: 30662625
  1. Treating patients with Gaucher disease and parkinsonism: misrepresentation in a title. Goker-Alpan O, Sidransky E.Parkinsonism Relat Disord. 2008;14(1):81-2; author reply 83. doi: 10.1016/j.parkreldis.2007.01.002. Epub 2007 Mar 9.PMID: 17350320 
  1. Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey. Lau H, Belmatoug N, Deegan P, Goker-Alpan O, Schwartz IVD, Shankar SP, Panahloo Z, Zimran A.Blood Cells Mol Dis. 2018 Feb;68:226-231. doi: 10.1016/j.bcmd.2016.10.003. Epub 2016 Oct 20.PMID: 27839985 
  1. A mutation in SCARB2 is a modifier in Gaucher disease. Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E.Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15.PMID: 21796727 
  1. Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E.Neurol Genet. 2016 Mar 4;2(2):e57. doi: 10.1212/NXG.0000000000000057. eCollection 2016 Apr.PMID: 27123476 
  1. Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications. Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E.Mol Genet Metab. 2011 Dec;104(4):631-6. doi: 10.1016/j.ymgme.2011.09.008. Epub 2011 Sep 16.PMID: 21982627 
  1. Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. Holleran WM, Ziegler SG, Goker-Alpan O, Eblan MJ, Elias PM, Schiffmann R, Sidransky E.Clin Genet. 2006 Apr;69(4):355-7. doi: 10.1111/j.1399-0004.2006.00589.x.PMID: 16630170 
  1. Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy. Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani PS, Pedroso ML, Gaemers SJM, Tayag R, Peterschmitt MJ.Blood. 2017 Apr 27;129(17):2375-2383. doi: 10.1182/blood-2016-12-758409. Epub 2017 Feb 6.PMID: 28167660 
  1. Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease. Goker-Alpan O, Wiggs EA, Eblan MJ, Benko W, Ziegler SG, Sidransky E, Schiffmann R.J Pediatr. 2008 Jul;153(1):89-94. doi: 10.1016/j.jpeds.2007.12.023. Epub 2008 Feb 14.PMID: 18571543 
  1. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E.Neurology. 2006 Sep 12;67(5):908-10. doi: 10.1212/01.wnl.0000230215.41296.18. Epub 2006 Jun 21.PMID: 16790605 
  1. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E.Arch Neurol. 2008 Oct;65(10):1353-7. doi: 10.1001/archneur.65.10.1353.PMID: 18852351 
  1. Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease. Elstein D, Hughes D, Goker-Alpan O, Stivel M, Baris HN, Cohen IJ, Granovsky-Grisaru S, Samueloff A, Mehta A, Zimran A.J Obstet Gynaecol Res. 2014 Apr;40(4):968-75. doi: 10.1111/jog.12254. Epub 2014 Feb 26.PMID: 24612151 
  1. Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Goker-Alpan O, Stubblefield BK, Giasson BI, Sidransky E.Acta Neuropathol. 2010 Nov;120(5):641-9. doi: 10.1007/s00401-010-0741-7. Epub 2010 Sep 14.PMID: 20838799 
  1. Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey. Schwartz IVD, Göker-Alpan Ö, Kishnani PS, Zimran A, Renault L, Panahloo Z, Deegan P; GOS Study group.Mol Genet Metab Rep. 2017 Dec 27;14:73-79. doi: 10.1016/j.ymgmr.2017.10.011. eCollection 2018 Mar.PMID: 29326879 
  1. Divergent phenotypes in Gaucher disease implicate the role of modifiers. Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, Sidransky E.J Med Genet. 2005 Jun;42(6):e37. doi: 10.1136/jmg.2004.028019.PMID: 15937077 
  1. Commentary on "Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease" by Zimran et al. Goker-Alpan O. Blood Cells Mol Dis. 2013 Feb;50(2):138-9. doi: 10.1016/j.bcmd.2012.09.007. Epub 2012 Oct 18.PMID: 23083682 
  1. Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism. Eblan MJ, Scholz S, Stubblefield B, Gutti U, Goker-Alpan O, Hruska KS, Singleton AB, Sidransky E.Neurosci Lett. 2006 Aug 14;404(1-2):163-5. doi: 10.1016/j.neulet.2006.05.032. Epub 2006 Jun 15.PMID: 16781064 
  1. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). Zimran A, Belmatoug N, Bembi B, Deegan P, Elstein D, Fernandez-Sasso D, Giraldo P, Goker-Alpan O, Lau H, Lukina E, Panahloo Z, Schwartz IVD; GOS Study group.Am J Hematol. 2018 Feb;93(2):205-212. doi: 10.1002/ajh.24957. Epub 2017 Dec 12.PMID: 29090476
  1. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E.J Pediatr. 2003 Aug;143(2):273-6. doi: 10.1067/S0022-3476(03)00302-0.PMID: 12970647 
  1. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. Kishnani P, Tarnopolsky M, Roberts M, Sivakumar K, Dasouki M, Dimachkie MM, Finanger E, Goker-Alpan O, Guter KA, Mozaffar T, Pervaiz MA, Laforet P, Levine T, Adera M, Lazauskas R, Sitaraman S, Khanna R, Benjamin E, Feng J, Flanagan JJ, Barth J, Barlow C, Lockhart DJ, Valenzano KJ, Boudes P, Johnson FK, Byrne B.Mol Ther. 2017 May 3;25(5):1199-1208. doi: 10.1016/j.ymthe.2017.02.017. Epub 2017 Mar 22.PMID: 28341561 
  1. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. Mehta A, Belmatoug N, Bembi B, Deegan P, Elstein D, Göker-Alpan Ö, Lukina E, Mengel E, Nakamura K, Pastores GM, Pérez-López J, Schwartz I, Serratrice C, Szer J, Zimran A, Di Rocco M, Panahloo Z, Kuter DJ, Hughes D.Mol Genet Metab. 2017 Nov;122(3):122-129. doi: 10.1016/j.ymgme.2017.08.002. Epub 2017 Aug 4.PMID: 28847676 
  1. Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease. Limgala RP, Ioanou C, Plassmeyer M, Ryherd M, Kozhaya L, Austin L, Abidoglu C, Unutmaz D, Alpan O, Goker-Alpan O. PLoS One. 2016 Dec 12;11(12):e0168135. doi: 10.1371/journal.pone.0168135. eCollection 2016.PMID: 27942037 
  1. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, LaMarca ME, Sidransky E.Mol Genet Metab. 2007 Jun;91(2):195-200. doi: 10.1016/j.ymgme.2007.03.004. Epub 2007 Apr 25.PMID: 17462935 
  1. Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. Limgala RP, Furtak V, Ivanova MM, Changsila E, Wilks F, Fidelia-Lambert MN, Goker-Alpan O, Gondré-Lewis MC.JIMD Rep. 2021 Jan 27;59(1):60-68. doi: 10.1002/jmd2.12201. eCollection 2021 May.PMID: 33977031 
  1. Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening. Urban DJ, Zheng W, Goker-Alpan O, Jadhav A, Lamarca ME, Inglese J, Sidransky E, Austin CP.Comb Chem High Throughput Screen. 2008 Dec;11(10):817-24. doi: 10.2174/138620708786734244.PMID: 19075603 
  1. Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa. Goker-Alpan O, Nedd K, Shankar SP, Lien YH, Weinreb N, Wijatyk A, Chang P, Martin R.JIMD Rep. 2015;23:7-15. doi: 10.1007/8904_2015_422. Epub 2015 Mar 31.PMID: 25822820 
  1. Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial. Pleat R, Cox TM, Burrow TA, Giraldo P, Goker-Alpan O, Rosenbloom BE, Croal LR, Underhill LH, Gaemers SJ, Peterschmitt MJ.Mol Genet Metab Rep. 2016 Sep 30;9:25-28. doi: 10.1016/j.ymgmr.2016.08.009. eCollection 2016 Dec.PMID: 27722092 
  1. Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. Zheng W, Padia J, Urban DJ, Jadhav A, Goker-Alpan O, Simeonov A, Goldin E, Auld D, LaMarca ME, Inglese J, Austin CP, Sidransky E.Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):13192-7. doi: 10.1073/pnas.0705637104. Epub 2007 Aug 1.PMID: 17670938 
  1. Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L.Genet Med. 2002 May-Jun;4(3):118-25. doi: 10.1097/00125817-200205000-00004.PMID: 12180145 
  1. Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease. Goker-Alpan O, Gambello MJ, Maegawa GH, Nedd KJ, Gruskin DJ, Blankstein L, Weinreb NJ.JIMD Rep. 2016;25:95-106. doi: 10.1007/8904_2015_483. Epub 2015 Aug 25.PMID: 26303609 
  1. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL.Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.PMID: 27473031 
  1. The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow. Goker-Alpan O, Masdeu JC, Kohn PD, Ianni A, Lopez G, Groden C, Chapman MC, Cropp B, Eisenberg DP, Maniwang ED, Davis J, Wiggs E, Sidransky E, Berman KF.Brain. 2012 Aug;135(Pt 8):2440-8. doi: 10.1093/brain/aws174.PMID: 22843412 
  1. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, Shen Y, Pano A.Drug Des Devel Ther. 2016 May 25;10:1771-81. doi: 10.2147/DDDT.S102761. eCollection 2016.PMID: 27307708 
  1. 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. Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, Eyskens F, Shankar S, Adera M, Sitaraman S, Khanna R, Flanagan JJ, Wustman BA, Barth J, Barlow C, Valenzano KJ, Lockhart DJ, Boudes P, Johnson FK.PLoS One. 2015 Aug 7;10(8):e0134341. doi: 10.1371/journal.pone.0134341. eCollection 2015.PMID: 26252393 
  1. A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Pastores GM, Rosenbloom B, Weinreb N, Goker-Alpan O, Grabowski G, Cohn GM, Zahrieh D.Genet Med. 2014 May;16(5):359-66. doi: 10.1038/gim.2013.154. Epub 2013 Nov 21.PMID: 24263462 
  1. Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease. Goláň L, Goker-Alpan O, Holida M, Kantola I, Klopotowski M, Kuusisto J, Linhart A, Musial J, Nicholls K, Gonzalez-Rodriguez D, Sharma R, Vujkovac B, Chang P, Wijatyk A.Drug Des Devel Ther. 2015 Jul 8;9:3435-44. doi: 10.2147/DDDT.S80928. eCollection 2015.PMID: 26185417 
  1. Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E.Neurology. 2008 Mar 18;70(12):976-8. doi: 10.1212/01.wnl.0000305963.37449.32.PMID: 18347322
  1. A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa. Thurberg BL, Carlier P, Kissel JT, Schoser B, Pestronk A, Barohn RJ, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Young P, Shafi R, Bjartmar C, van der Ploeg A.J Neuromuscul Dis. 2015;2(s1):S72-S73.PMID: 27858658 
  1. Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease. Oppenheim IM, Canon AM, Barcenas W, Groden C, Goker-Alpan O, Resnik CS, Sidransky E.Skeletal Radiol. 2011 Dec;40(12):1611-5. doi: 10.1007/s00256-011-1260-x. Epub 2011 Sep 20.PMID: 21935720