Publications

Mistry

1.

Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014.

Barranger JA, Brady RO, Grabowski GA, Mankin H, Mistry PK, Weinreb NJ.

Am J Hematol. 2014 May;89 (5) :457-8. Epub 2014 Mar 7. PMID: 24488939

2.

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M.

Proc Natl Acad Sci U S A. 2014 Apr 1;111 (13) :4934-9. Epub 2014 Mar 17. PMID: 24639522

3.

Treatment for LSDs: no longer just enzyme replacement therapy for Gaucher disease. Foreword.

Cohen IJ, Baris H, Mistry PK.

Pediatr Endocrinol Rev. 2013 Nov;11 Suppl 1 :58. PMID: 24380122

4.

Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.

Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE.

Crit Rev Oncog. 2013;18 (3) :235-46. PMID: 23510066

5.

Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK.

J Bone Miner Res. 2012 Aug;27 (8) :1839-48. PMID: 22692814

6.

Gaucher disease gene GBA functions in immune regulation.

Liu J, Halene S, Yang M, Iqbal J, Yang R, Mehal WZ, Chuang WL, Jain D, Yuen T, Sun L, Zaidi M, Mistry PK.

Proc Natl Acad Sci U S A. 2012 Jun 19;109 (25) :10018-23. Epub 2012 Jun 4. PMID: 22665763

7.

Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice.

Yuen T, Iqbal J, Zhu LL, Sun L, Lin A, Zhao H, Liu J, Mistry PK, Zaidi M.

Biochem Biophys Res Commun. 2012 Jun 15;422 (4) :573-7. Epub 2012 May 12. PMID: 22588172

8.

Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion.

Mistry PK, Weinthal JA, Weinreb NJ.

Clin Adv Hematol Oncol. 2012 Jun;10 (6 Suppl 8) :1-16. PMID: 22895100

9.

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.

Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK.

Blood. 2012 May 17;119 (20) :4731-40. Epub 2012 Apr 4. PMID: 22493294

10.

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK.

Am J Hematol. 2012 Apr;87 (4) :377-83. Epub 2012 Mar 3. PMID: 22388998

11.

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.

Dekker N, van Dussen L, Hollak CE, Overkleeft H, Scheij S, Ghauharali K, van Breemen MJ, Ferraz MJ, Groener JE, Maas M, Wijburg FA, Speijer D, Tylki-Szymanska A, Mistry PK, Boot RG, Aerts JM.

Blood. 2011 Oct 20;118 (16) :e118-27. Epub 2011 Aug 25. PMID: 21868580

12.

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.

Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK.

J Inherit Metab Dis. 2011 Jun;34 (3) :643-50. Epub 2011 Mar 29. PMID: 21445609

13.

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity.

Stein P, Yang R, Liu J, Pastores GM, Mistry PK.

J Inherit Metab Dis. 2011 Apr;34 (2) :429-37. Epub 2011 Feb 3. PMID: 21290183

14.

Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults.

Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T.

Blood Cells Mol Dis. 2011 Jan 15;46 (1) :66-72. Epub 2010 Nov 26. PMID: 21112800

15.

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

Mistry PK, Cappellini MD, Lukina E, Ozsan H, Mach Pascual S, Rosenbaum H, Helena Solano M, Spigelman Z, Villarrubia J, Watman NP, Massenkeil G.

Am J Hematol. 2011 Jan;86 (1) :110-5. PMID: 21080341

16.

Misdiagnosis of Niemann-Pick disease type C as Gaucher disease.

Lo SM, McNamara J, Seashore MR, Mistry PK.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3 :S429-33. Epub 2010 Sep 30. PMID: 20882348

17.

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.

Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK.

J Inherit Metab Dis. 2010 Dec;33 (6) :769-74. Epub 2010 Aug 4. PMID: 20683668

18.

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.

Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M.

Proc Natl Acad Sci U S A. 2010 Nov 9;107 (45) :19473-8. Epub 2010 Oct 20. PMID: 20962279

19.

Hyperferritinemia and iron overload in type 1 Gaucher disease.

Stein P, Yu H, Jain D, Mistry PK.

Am J Hematol. 2010 Jul;85 (7) :472-6. PMID: 20575041

20.

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.

Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK.

J Inherit Metab Dis. 2010 Jun;33 (3) :291-300. Epub 2010 Mar 31. PMID: 20354791

22.

The risk of Parkinson's disease in type 1 Gaucher disease.

Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK.

J Inherit Metab Dis. 2010 Apr;33 (2) :167-73. Epub 2010 Feb 23. PMID: 20177787

23.

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.

Hůlková H, Poupetová H, Harzer K, Mistry P, Aerts JM, Elleder M.

J Inherit Metab Dis. 2010 Feb;33 (1) :69-78. Epub 2010 Jan 5. PMID: 20049530

24.

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.

Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ.

Br J Haematol. 2009 Nov;147 (4) :561-70. Epub 2009 Sep 3. PMID: 19732054

25.

Gaucher disease: resetting the clinical and scientific agenda.

Mistry PK, Weinreb NJ, Brady RO, Grabowski GA.

Am J Hematol. 2009 Apr;84 (4) :205-7. PMID: 19296473

26.

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.

Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK.

Am J Hematol. 2009 Apr;84 (4) :208-14. PMID: 19260119

27.

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S.

Genet Med. 2009 Feb;11 (2) :92-100. PMID: 19265748

28.

Life expectancy in Gaucher disease type 1.

Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S.

Am J Hematol. 2008 Dec;83 (12) :896-900. PMID: 18980271

29.

Prevalence of type 1 Gaucher disease in the United States.

Weinreb NJ, Andersson HC, Banikazemi M, Barranger J, Beutler E, Charrow J, Grabowski GA, Hollak CE, Kaplan P, Mankin H, Mistry PK, Rosenbloom BE, Vom Dahl S, Zimran A.

Arch Intern Med. 2008 Feb 11;168 (3) :326-7; author reply 327-8. PMID: 18268176

31.

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease.

Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P.

Am J Hematol. 2005 Nov;80 (3) :223-9. PMID: 16247743

32.

Individualization of long-term enzyme replacement therapy for Gaucher disease.

Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ.

Genet Med. 2005 Feb;7 (2) :105-10. PMID: 15714077

33.

Hepatocellular carcinoma in type 1 Gaucher disease: a case report with review of the literature.

Xu R, Mistry P, McKenna G, Emre S, Schiano T, Bu-Ghanim M, Levi G, Fiel MI.

Semin Liver Dis. 2005;25 (2) :226-9. PMID: 15918150

34.

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.

Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A.

Semin Hematol. 2004 Oct;41 (4 Suppl 5) :15-22. PMID: 15468046

35.

Therapeutic goals in the treatment of Gaucher disease.

Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A.

Semin Hematol. 2004 Oct;41 (4 Suppl 5) :4-14. PMID: 15468045

36.

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.

Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ.

J Pediatr. 2004 Jan;144 (1) :112-20. PMID: 14722528

37.

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.

Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A.

Am J Med. 2002 Aug 1;113 (2) :112-9. PMID: 12133749

Pastores

1.

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.

Pastores GM, Petakov M, Giraldo P, Rosenbaum H, Szer J, Deegan PB, Amato DJ, Mengel E, Tan ES, Chertkoff R, Brill-Almon E, Zimran A.

Blood Cells Mol Dis. 2014 Dec;53 (4) :253-60. Epub 2014 Jun 18. PMID: 24950666

2.

Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4years of treatment.

Lukina E, Watman N, Dragosky M, Pastores GM, Arreguin EA, Rosenbaum H, Zimran A, Angell J, Ross L, Puga AC, Peterschmitt JM.

Blood Cells Mol Dis. 2014 Dec;53 (4) :274-6. Epub 2014 May 15. PMID: 24835462

3.

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat.

Kamath RS, Lukina E, Watman N, Dragosky M, Pastores GM, Arreguin EA, Rosenbaum H, Zimran A, Aguzzi R, Puga AC, Norfleet AM, Peterschmitt MJ, Rosenthal DI.

Skeletal Radiol. 2014 Oct;43 (10) :1353-60. Epub 2014 May 10. PMID: 24816856

4.

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. Epub 2013 Nov 21. PMID: 24263462

5.

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA.

Am J Hematol. 2013 Mar;88 (3) :172-8. Epub 2013 Jan 22. PMID: 23339116

6.

Haematological manifestations and complications of Gaucher disease.

Hughes DA, Pastores GM.

Curr Opin Hematol. 2013 Jan;20 (1) :41-7. PMID: 23108221

7.

Parkinson's disease in patients and obligate carriers of Gaucher disease.

Becker JG, Pastores GM, Di Rocco A, Ferraris M, Graber JJ, Sathe S.

Parkinsonism Relat Disord. 2013 Jan;19 (1) :129-31. Epub 2012 Aug 31. PMID: 22940477

8.

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK.

Am J Hematol. 2012 Apr;87 (4) :377-83. Epub 2012 Mar 3. PMID: 22388998

9.

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity.

Stein P, Yang R, Liu J, Pastores GM, Mistry PK.

J Inherit Metab Dis. 2011 Apr;34 (2) :429-37. Epub 2011 Feb 3. PMID: 21290183

10.

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.

Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK.

J Inherit Metab Dis. 2010 Dec;33 (6) :769-74. Epub 2010 Aug 4. PMID: 20683668

11.

Neuropathic Gaucher disease.

Pastores GM.

Wien Med Wochenschr. 2010 Dec;160 (23-24) :605-8. PMID: 21221912

12.

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study.

Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Kamath RS, Rosenthal DI, Kaper M, Singh T, Puga AC, Peterschmitt MJ.

Blood. 2010 Nov 18;116 (20) :4095-8. Epub 2010 Aug 16. PMID: 20713962

13.

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

Lukina E, Watman N, Arreguin EA, Banikazemi M, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Rosenthal DI, Kaper M, Singh T, Puga AC, Bonate PL, Peterschmitt MJ.

Blood. 2010 Aug 12;116 (6) :893-9. Epub 2010 May 3. PMID: 20439622

14.

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.

Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores G, Sathe S, Tagliati M, Condefer K, Palmese C, Brüggemann N, Klein C, Roe A, Kornreich R, Ozelius L, Bressman S.

Mov Disord. 2010 Jul 30;25 (10) :1364-72. PMID: 20629126

15.

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.

Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK.

J Inherit Metab Dis. 2010 Jun;33 (3) :291-300. Epub 2010 Mar 31. PMID: 20354791

17.

Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease.

Pastores GM.

Curr Opin Investig Drugs. 2010 Apr;11 (4) :472-8. PMID: 20336596

18.

The risk of Parkinson's disease in type 1 Gaucher disease.

Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK.

J Inherit Metab Dis. 2010 Apr;33 (2) :167-73. Epub 2010 Feb 23. PMID: 20177787

19.

Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease.

Pastores GM.

BioDrugs. 2010 Feb 1;24 (1) :41-7. PMID: 20055531

20.

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.

Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK.

Am J Hematol. 2009 Apr;84 (4) :208-14. PMID: 19260119

21.

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

Sidransky E, Pastores GM, Mori M.

Genet Med. 2009 Feb;11 (2) :90-1. PMID: 19265747

22.

Goal-oriented therapy with miglustat in Gaucher disease.

Pastores GM, Giraldo P, Chérin P, Mehta A.

Curr Med Res Opin. 2009 Jan;25 (1) :23-37. PMID: 19210136

23.

Life expectancy in Gaucher disease type 1.

Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S.

Am J Hematol. 2008 Dec;83 (12) :896-900. PMID: 18980271

24.

Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies.

Pastores GM, Elstein D, Hrebícek M, Zimran A.

Clin Ther. 2007 Aug;29 (8) :1645-54. PMID: 17919546

25.

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease.

Wenstrup RJ, Kacena KA, Kaplan P, Pastores GM, Prakash-Cheng A, Zimran A, Hangartner TN.

J Bone Miner Res. 2007 Jan;22 (1) :119-26. PMID: 17032149

26.

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment.

Pastores GM, Barnett NL, Kolodny EH.

Clin Ther. 2005 Aug;27 (8) :1215-27. PMID: 16199246

27.

Individualization of long-term enzyme replacement therapy for Gaucher disease.

Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ.

Genet Med. 2005 Feb;7 (2) :105-10. PMID: 15714077

29.

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.

Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A.

Semin Hematol. 2004 Oct;41 (4 Suppl 5) :15-22. PMID: 15468046

30.

Therapeutic goals in the treatment of Gaucher disease.

Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A.

Semin Hematol. 2004 Oct;41 (4 Suppl 5) :4-14. PMID: 15468045

31.

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.

Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ.

J Pediatr. 2004 Jan;144 (1) :112-20. PMID: 14722528

32.

Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.

Pastores GM, Barnett NL.

Expert Opin Investig Drugs. 2003 Feb;12 (2) :273-81. PMID: 12556220

33.

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.

Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A.

Am J Med. 2002 Aug 1;113 (2) :112-9. PMID: 12133749

34.

Gaucher Disease

Pastores GM, Hughes DA.

. 1993; PMID: 20301446