G M Pastores

Summary

Affiliation: New York University
Country: USA

Publications

  1. ncbi request reprint Krabbe disease: an overview
    G M Pastores
    Department of Neurology, New York University School of Medicine, New York, NY 10016, USA
    Int J Clin Pharmacol Ther 47:S75-81. 2009
  2. ncbi request reprint A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders
    Gregory M Pastores
    Neurogenetics Unit, Departments of Neurology and Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Drugs R D 7:339-48. 2006
  3. doi request reprint To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model
    Gregory M Pastores
    Department of Neurology, New York University School of Medicine, New York, New York 10016, USA
    Kidney Int 75:351-3. 2009
  4. doi request reprint Musculoskeletal complications encountered in the lysosomal storage disorders
    Gregory M Pastores
    New York University School of Medicine, New York, NY, USA
    Best Pract Res Clin Rheumatol 22:937-47. 2008
  5. ncbi request reprint Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I)
    Gregory M Pastores
    Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Curr Opin Rheumatol 17:70-8. 2005
  6. ncbi request reprint Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I
    Gregory M Pastores
    New York University School of Medicine, 403 East 34th Street, 2nd Floor, New York, NY 10016, USA
    Expert Opin Biol Ther 8:1003-9. 2008
  7. ncbi request reprint An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment
    Gregory M Pastores
    Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, NY 10016, USA
    Clin Ther 27:1215-27. 2005
  8. ncbi request reprint Current and emerging therapies for the lysosomal storage disorders
    Gregory M Pastores
    Division of Neurogenetics, Department of Neurology, New York University School of Medicine, New York, NY 10016, USA
    Expert Opin Emerg Drugs 10:891-902. 2005
  9. ncbi request reprint Miglustat: substrate reduction therapy for lysosomal storage disorders associated with primary central nervous system involvement
    Gregory M Pastores
    Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, New York, NY, USA
    Recent Pat CNS Drug Discov 1:77-82. 2006
  10. ncbi request reprint Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease
    Gregory M Pastores
    Department of Neurology, New York University School of Medicine, 403 East 34th Street, New York, NY 10016, and St Louis Children s Hospital, MO, USA
    Nephrol Dial Transplant 22:1920-5. 2007

Detail Information

Publications50

  1. ncbi request reprint Krabbe disease: an overview
    G M Pastores
    Department of Neurology, New York University School of Medicine, New York, NY 10016, USA
    Int J Clin Pharmacol Ther 47:S75-81. 2009
    ..The current understanding of the mechanisms underlying Krabbe disease is summarized, and therapeutic options--including current and investigational approaches--are outlined...
  2. ncbi request reprint A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders
    Gregory M Pastores
    Neurogenetics Unit, Departments of Neurology and Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Drugs R D 7:339-48. 2006
    ..A major therapeutic goal would be improved physical and functional wellbeing, leading to increased meaningful survival...
  3. doi request reprint To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model
    Gregory M Pastores
    Department of Neurology, New York University School of Medicine, New York, New York 10016, USA
    Kidney Int 75:351-3. 2009
    ..Decreased membrane Gb3/CD77 expression was observed following agalsidase-alpha treatment, providing evidence of changes in cellular phenotype in response to enzyme therapy...
  4. doi request reprint Musculoskeletal complications encountered in the lysosomal storage disorders
    Gregory M Pastores
    New York University School of Medicine, New York, NY, USA
    Best Pract Res Clin Rheumatol 22:937-47. 2008
    ..Physical and occupational therapy remain critical components of a comprehensive approach to patient care...
  5. ncbi request reprint Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I)
    Gregory M Pastores
    Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Curr Opin Rheumatol 17:70-8. 2005
    ..This review focuses on two disease groups: glycosphingolipidoses and mucopolysaccharidoses. Specifically, Gaucher disease and Hurler-Scheie syndrome have been selected as the prototypical disorder for each respective class...
  6. ncbi request reprint Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I
    Gregory M Pastores
    New York University School of Medicine, 403 East 34th Street, 2nd Floor, New York, NY 10016, USA
    Expert Opin Biol Ther 8:1003-9. 2008
    ....
  7. ncbi request reprint An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment
    Gregory M Pastores
    Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, NY 10016, USA
    Clin Ther 27:1215-27. 2005
    ..The substrate synthesis inhibitor miglustat (N-butyldeoxynojirimycin) is the first oral agent to receive regulatory approval for the treatment of type I Gaucher disease (GD)...
  8. ncbi request reprint Current and emerging therapies for the lysosomal storage disorders
    Gregory M Pastores
    Division of Neurogenetics, Department of Neurology, New York University School of Medicine, New York, NY 10016, USA
    Expert Opin Emerg Drugs 10:891-902. 2005
    ....
  9. ncbi request reprint Miglustat: substrate reduction therapy for lysosomal storage disorders associated with primary central nervous system involvement
    Gregory M Pastores
    Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, New York, NY, USA
    Recent Pat CNS Drug Discov 1:77-82. 2006
    ..With greater understanding of disease mechanism, adjunctive therapies may be identified; offering the prospect of modifying these otherwise relentlessly progressive neurodegenerative diseases...
  10. ncbi request reprint Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease
    Gregory M Pastores
    Department of Neurology, New York University School of Medicine, 403 East 34th Street, New York, NY 10016, and St Louis Children s Hospital, MO, USA
    Nephrol Dial Transplant 22:1920-5. 2007
    ..Nearly all classically affected males with FD experience kidney dysfunction, with progression to end-stage renal disease (ESRD) in the third decade of life or shortly thereafter...
  11. ncbi request reprint The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
    Gregory M Pastores
    NYU School of Medicine, New York, NY 10016, USA
    Mol Genet Metab 91:37-47. 2007
    ....
  12. ncbi request reprint Goal-oriented therapy with miglustat in Gaucher disease
    Gregory M Pastores
    Neurology and Pediatrics, New York University School of Medicine, New York, NY 10016, USA
    Curr Med Res Opin 25:23-37. 2009
    ..Several clinical studies have demonstrated the beneficial effects of miglustat on cardinal disease manifestations of GD1...
  13. ncbi request reprint A neurological symptom survey of patients with type I Gaucher disease
    G M Pastores
    Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, New York, NY 10016, USA
    J Inherit Metab Dis 26:641-5. 2003
    ..These issues may influence patients' assessment of their disease severity and/or response to treatment...
  14. doi request reprint Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease
    Gregory M Pastores
    Department of Neurology, New York University School of Medicine, New York, New York 10016, USA
    BioDrugs 24:41-7. 2010
    ..Ongoing investigations are providing new insights into downstream mechanisms of disease, which may serve as further targets for adjunctive treatments. Cost of care considerations remain a topic of debate...
  15. ncbi request reprint Biochemical and molecular genetic basis of Fabry disease
    Gregory M Pastores
    Neurogenetics Program, Department of Neurology and Pediatrics, New York University School of Medicine, New York, NY 10016, USA
    J Am Soc Nephrol 13:S130-3. 2002
  16. doi request reprint Neuropathic Gaucher disease
    Gregory M Pastores
    Departments of Neurology and Pediatrics, New York University School of Medicine, New York, USA
    Wien Med Wochenschr 160:605-8. 2010
    ..Improved understanding of the pathophysiologic basis of neurologic involvement may enable development of therapies that may have a positive influence on neurologic outcome...
  17. ncbi request reprint Advances in the management of Anderson-Fabry disease: enzyme replacement therapy
    Gregory M Pastores
    New York University School of Medicine, Neurogenetics Unit, 403 East 34th Street, New York, NY 10016, USA
    Expert Opin Biol Ther 2:325-33. 2002
    ..The relative rarity and complexity of AFD necessitates a multi-disciplinary team approach that may be facilitated by a centralised registry...
  18. ncbi request reprint Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1
    Gregory M Pastores
    Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, New York, USA
    Expert Opin Investig Drugs 12:273-81. 2003
    ....
  19. ncbi request reprint Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV
    Z H Wang
    Department of Neurology, New York University School of Medicine, NY 10016, USA
    Genet Test 5:87-92. 2001
    ..The modifications described here provide a more facile means of genotyping patients and carriers and expand the possibilities for screening at-risk populations...
  20. ncbi request reprint Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease
    B J Zeng
    Department of Neurology, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA
    Mol Genet Metab 89:156-63. 2006
    ....
  21. ncbi request reprint Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations
    S Raghavan
    Department of Neurology, NYU School of Medicine, New York University, New York, New York, USA
    J Inherit Metab Dis 28:1005-9. 2005
    ....
  22. doi request reprint Spontaneous appearance of Tay-Sachs disease in an animal model
    B J Zeng
    Department of Neurology, New York University School of Medicine, New York, NY 10016, USA
    Mol Genet Metab 95:59-65. 2008
    ..5% identity at the amino acid level with the encoding region of the human HEXA gene. This animal model, with many of the same features as TSD in humans, could represent a valuable resource for investigating therapy of TSD...
  23. ncbi request reprint Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
    B J Zeng
    Department of Neurology, New York University School of Medicine, New York 10016, USA
    J Inherit Metab Dis 25:557-70. 2002
    ..Also, patients with certain other novel mutations, including C152W, E214X, X314W, and frame shift mutations in both alleles, developed clinical manifestations at an earlier age than in classical Canavan disease...
  24. doi request reprint Animal models for lysosomal storage disorders
    G M Pastores
    Neurogenetics, Department of Neurology, New York University School of Medicine, New York, NY 10016, USA
    Biochemistry (Mosc) 78:721-5. 2013
    ..This review will highlight lessons learned from studies of animal models of disease, drawing primarily from publications in 2011-2012. ..
  25. ncbi request reprint Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease
    A Miller
    Division of Pulmonary and Critical Care Medicine, Mount Sinai Medical Center, New York, NY, USA
    Clin Genet 63:368-76. 2003
    ..In addition, we found that some patients, without evident lung involvement, may experience limitations in physical exertion and are easily fatigued; this is attributable to impaired circulation...
  26. pmc Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study
    K B Sims
    Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
    Clin Genet 73:430-40. 2008
    ..17 +/- 1.206 (p = 0.035) at month 36. This increase was sustained at 48 months. With imiglucerase treatment, patients should anticipate resolution of BC, rapid improvement in BP, increases in BMD, and decreased skeletal complications...
  27. ncbi request reprint Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease
    Z H Wang
    Department of Neurology, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA
    Neuroscience 113:629-40. 2002
    ..Our data indicate that the combined use of TH and BDNF has a synergistic therapeutic effect, and is more efficient for the treatment of PD than a single gene therapy using either TH or BDNF alone...
  28. ncbi request reprint CNS pathology and vascular/circulatory abnormalities in Fabry disease
    Edwin H Kolodny
    Department of Neurology, New York University School of Medicine, New York, USA
    Acta Paediatr Suppl 95:55-6. 2006
  29. ncbi request reprint Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies
    Gregory M Pastores
    Department of Neurology and Pediatrics, New York University School of Medicine, New York, New York, USA
    Clin Ther 29:1645-54. 2007
    ..The effect of enzyme replacement therapy (ERT) on GD bone disease can be limited and may take up to 8 years to become manifest. Miglustat, a glucosylceramide synthase inhibitor, may have a positive influence on GD bone disease...
  30. pmc Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease
    M E Grace
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Clin Invest 103:817-23. 1999
    ..Thus, characterization of these novel genotypes with non-pseudogene-derived complex mutations provided the pathogenic basis for their diverse phenotypes...
  31. ncbi request reprint Greater risk of parkinsonism associated with non-N370S GBA1 mutations
    M J Barrett
    Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA
    J Inherit Metab Dis 36:575-80. 2013
    ..GBA1 heterozygotes with non-N370S mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations...
  32. ncbi request reprint Neuropsychological assessment of patients with late onset GM2 gangliosidosis
    C M Zaroff
    Department of Neurology, New York University Medical Center, New York 10016, USA
    Neurology 62:2283-6. 2004
    ..To characterize cognitive status in a sample of individuals with late-onset GM2 gangliosidosis (commonly referred to as late-onset Tay-Sachs disease)...
  33. ncbi request reprint Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties
    A Zia
    Department of Pediatrics and Clinical Genetics at Columbia University Medical Center, Morgan Stanley Children s Hospital, New York, NY, USA
    J Inherit Metab Dis 30:817. 2007
    ..The introduction of appropriate dietary measures (i.e. avoidance of fasting, long-chain fat restriction and supplementation with medium-chain triglycerides) greatly reduces the likelihood of complications...
  34. doi request reprint Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment
    Barbara E Shapiro
    Department of Neurology, University Hospitals Case Medical Center, Cleveland, Ohio 44106 5098, USA
    Genet Med 11:425-33. 2009
    ..To evaluate the safety and efficacy of miglustat in patients with GM2 gangliosidosis...
  35. ncbi request reprint Anderson-Fabry disease: extrarenal, neurologic manifestations
    Edwin H Kolodny
    Neurogenetics Program, Department of Neurology and Pediatrics, New York University School of Medicine, New York, NY 10016, USA
    J Am Soc Nephrol 13:S150-3. 2002
  36. ncbi request reprint Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease
    Gregory M Pastores
    New York University School of Medicine, Departments of Neurology and Pediatrics, New York, NY 10016, USA
    Curr Opin Investig Drugs 11:472-8. 2010
    ..Whether this will prove beneficial, in terms of uptake and prescribing of the enzyme, remains to be seen in a market dominated by imiglucerase...
  37. ncbi request reprint Therapeutic goals in the treatment of Gaucher disease
    Gregory M Pastores
    Neurology in Pediatrics, Neurgenetics Unit, Department of Neurology, New York University School of Medicine, NY, USA
    Semin Hematol 41:4-14. 2004
    ..Here we establish goals of treatment in Gaucher disease and propose a comprehensive schedule of monitoring of all relevant aspects to confirm the achievement, maintenance, and continuity of the therapeutic response...
  38. ncbi request reprint Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients
    Orit Neudorfer
    Division of Neurogenetics, Department of Neurology, New York University School of Medicine, New York, NY, USA
    Genet Med 7:119-23. 2005
    ..The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses...
  39. ncbi request reprint Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
    James E Wraith
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester, United Kingdom
    J Pediatr 144:581-8. 2004
    ..To confirm the efficacy and safety of recombinant human alpha-L-iduronidase (laronidase) in patients with mucopolysaccharidosis I (MPS I)...
  40. ncbi request reprint Patients with Fabry disease on dialysis in the United States
    Ravi Thadhani
    Renal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Kidney Int 61:249-55. 2002
    ..Little is known about the characteristics of patients with Fabry disease that initiate dialysis in the United States, although data from Europe suggests these individuals have a poor survival...
  41. doi request reprint Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta
    Atul Mehta
    Mol Genet Metab 95:114-5. 2008
  42. ncbi request reprint Fabry disease: guidelines for the evaluation and management of multi-organ system involvement
    Christine M Eng
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genet Med 8:539-48. 2006
    ....
  43. ncbi request reprint Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd SSB, Los Angeles, CA 90048, USA
    Mol Genet Metab 93:112-28. 2008
    ..Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy...
  44. ncbi request reprint Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease
    Richard J Wenstrup
    Cincinnati Children s Hospital Research Foundation, Ohio, USA
    J Bone Miner Res 22:119-26. 2007
    ..Data were analyzed for 160 untreated patients and 342 ERT-treated patients. Imiglucerase significantly improves BMD in patients with GD, with 8 years of ERT leading to normal BMD...
  45. ncbi request reprint Individualization of long-term enzyme replacement therapy for Gaucher disease
    Hans C Andersson
    Human Genetics Program, Hayward Genetics Center, Tulane University Medical School, New Orleans, Louisiana, USA
    Genet Med 7:105-10. 2005
    ..In this review, we present recommendations for initial imiglucerase treatment and subsequent dose adjustments based on a schedule of regular assessment and monitoring, and achievement and maintenance of defined therapeutic goals...
  46. ncbi request reprint Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors
    Robin L Bennett
    Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Box 357720, Seatlle, Washington 98195 7720, USA
    J Genet Couns 11:121-46. 2002
    ..The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations...
  47. doi request reprint Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damage
    Xiomara Q Rosales
    Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA
    J Child Neurol 23:748-51. 2008
    ..Validation of this finding is essential for management of patients with muscle disorders exposed to potentially hepatotoxic drugs for clinical management or monitoring subjects participating in clinical trials...
  48. ncbi request reprint Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease
    Ellen Schäfer
    Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany
    Hum Mutat 25:412. 2005
    ..6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients...
  49. ncbi request reprint Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients
    Neal J Weinreb
    University Research Foundation for Lysosomal Storage Diseases, Department of Medicine, University Hospital, Tamarac, FL, USA
    Semin Hematol 41:15-22. 2004
    ..Additionally, reassessment should be performed whenever enzyme therapy dose is altered, or in case of significant clinical complication...
  50. ncbi request reprint Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease
    Bai jin Zeng
    Department of Neurology, New York University School of Medicine 550 First Avenue, New York, NY 10016, USA
    Adv Exp Med Biol 576:165-73; discussion 361-3. 2006