Robert J Desnick

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. ncbi request reprint Enzyme replacement therapy for Fabry disease, an inherited nephropathy
    R J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Clin Nephrol 57:1-8. 2002
  2. ncbi request reprint Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th St, New York, NY 10029, USA
    Expert Opin Biol Ther 4:1167-76. 2004
  3. ncbi request reprint Enzyme replacement and beyond
    R J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York 10029, USA
    J Inherit Metab Dis 24:251-65. 2001
  4. ncbi request reprint Fabry disease in childhood
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Pediatr 144:S20-6. 2004
  5. ncbi request reprint Enzyme replacement and enhancement therapies for lysosomal diseases
    R J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    J Inherit Metab Dis 27:385-410. 2004
  6. ncbi request reprint Enzyme replacement and enhancement therapies: lessons from lysosomal disorders
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine at New York University, New York, New York 10029, USA
    Nat Rev Genet 3:954-66. 2002
  7. ncbi request reprint Congenital erythropoietic porphyria: advances in pathogenesis and treatment
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, New York University, Fifth Avenue and 100th Street, New York, NY 10029, USA
    Br J Haematol 117:779-95. 2002
  8. pmc A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B
    Margaret M McGovern
    Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, New York, USA
    Pediatrics 122:e341-9. 2008
  9. pmc Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Box 1497, Mount Sinai School of Medicine, 1428 Madison Avenue, New York, NY 10029, USA
    Pharmacogenomics 13:297-307. 2012
  10. doi request reprint Warfarin pharmacogenetics: a controlled dose-response study in healthy subjects
    Daniella L Kadian-Dodov
    Vascular Medicine Section, The Zena and Michael A Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA
    Vasc Med 18:290-7. 2013

Collaborators

Detail Information

Publications158 found, 100 shown here

  1. ncbi request reprint Enzyme replacement therapy for Fabry disease, an inherited nephropathy
    R J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Clin Nephrol 57:1-8. 2002
    ....
  2. ncbi request reprint Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th St, New York, NY 10029, USA
    Expert Opin Biol Ther 4:1167-76. 2004
    ..The process also highlighted important issues in the evaluation of drugs to treat life-threatening genetic diseases for which the pathological basis is well-defined...
  3. ncbi request reprint Enzyme replacement and beyond
    R J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York 10029, USA
    J Inherit Metab Dis 24:251-65. 2001
    ....
  4. ncbi request reprint Fabry disease in childhood
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Pediatr 144:S20-6. 2004
  5. ncbi request reprint Enzyme replacement and enhancement therapies for lysosomal diseases
    R J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    J Inherit Metab Dis 27:385-410. 2004
    ..The current status of ERT and the prospects for EET for lysosomal storage diseases are reviewed...
  6. ncbi request reprint Enzyme replacement and enhancement therapies: lessons from lysosomal disorders
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine at New York University, New York, New York 10029, USA
    Nat Rev Genet 3:954-66. 2002
    ..This review discusses the successes and shortcomings of these therapeutic strategies, and the contributions that they have made to treating lysosomal storage diseases...
  7. ncbi request reprint Congenital erythropoietic porphyria: advances in pathogenesis and treatment
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, New York University, Fifth Avenue and 100th Street, New York, NY 10029, USA
    Br J Haematol 117:779-95. 2002
  8. pmc A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B
    Margaret M McGovern
    Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, New York, USA
    Pediatrics 122:e341-9. 2008
    ..The objective of this study was to characterize the clinical features of patients with Niemann-Pick disease type B and to identify efficacy end points for future clinical trials of enzyme-replacement therapy...
  9. pmc Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Box 1497, Mount Sinai School of Medicine, 1428 Madison Avenue, New York, NY 10029, USA
    Pharmacogenomics 13:297-307. 2012
    ....
  10. doi request reprint Warfarin pharmacogenetics: a controlled dose-response study in healthy subjects
    Daniella L Kadian-Dodov
    Vascular Medicine Section, The Zena and Michael A Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA
    Vasc Med 18:290-7. 2013
    ..In conclusion, genotype-guided warfarin-dosing algorithms may rely more on genetic variables in healthier individuals than in patients with clinical confounders...
  11. ncbi request reprint Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography
    Junaid Shabbeer
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Hum Mutat 25:299-305. 2005
    ..14 and 0.25 in both normal individuals and Fabry patients, respectively. This DHPLC method should improve the rapidity and cost-effectiveness of alpha-Gal A mutation identification in affected males and carrier females for Fabry disease...
  12. pmc Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Box 1498, Mount Sinai School of Medicine of New York University, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Pharmacogenomics 11:781-91. 2010
    ..Thus, we determined the individual and combined frequencies of important CYP2C9, VKORC1 and CYP4F2 variants in several racial/ethnic groups...
  13. ncbi request reprint Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029
    Hum Mutat 3:103-11. 1994
    ..Studies of additional Fabry families will provide information on the nature and frequency of the mutations causing this disease as well as potential insights into the structure/function relationships of this lysosomal hydrolase...
  14. pmc Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
    Hepatology 58:958-65. 2013
    ..Using this estimate, the predicted prevalence of CESD in the Caucasian and Hispanic populations is ∼0.8 per 100,000 (∼1 in 130,000; 95% CI: ∼1 in 90,000 to 1 in 170,000)...
  15. pmc Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes
    Manisha Balwani
    Comprehensive Gaucher Disease Treatment Center, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Arch Intern Med 170:1463-9. 2010
    ..However, there are no systematic studies of N370S homozygotes to support this presumption...
  16. pmc Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation
    Sonia Clavero
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
    Mol Med 16:381-8. 2010
    ..Thus, the synergistic interaction of two rare amino acid substitutions in the URO-synthase polypeptide caused the feline model of human CEP...
  17. pmc Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts
    David F Bishop
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
    Blood 115:1062-9. 2010
    ..This is the first BPS mutation in the last intron, presumably accounting for the observed 100% intron retention without exon skipping...
  18. pmc CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Pharmacogenomics 10:1243-55. 2009
    ..1173C>T) commonly found among Caucasians. Therefore, this study sought to identify other CYP2C9 and VKORC1 alleles important in warfarin dose variability and to determine their frequencies in different racial and ethnic groups...
  19. pmc Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
    Junaid Shabbeer
    Department of Human Genetics, Mount Sinai School of Medicine, New York University, New York, NY 10029, USA
    Hum Genomics 2:297-309. 2006
    ....
  20. ncbi request reprint Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews
    Jianli Dong
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Am J Med Genet 110:253-7. 2002
    ..This sensitive and specific assay should facilitate carrier screening for FD mutations in the AJ community, as well as postnatal diagnostic testing...
  21. pmc Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Am J Hum Genet 82:495-500. 2008
    ..1639G-->A) or "resistant" (VKORC1 p.D36Y) allele, indicating that each group has different warfarin pharmacogenetics and would benefit from genotype-based dose predictions...
  22. ncbi request reprint Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele
    Makiko Yasuda
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Hum Mutat 22:486-92. 2003
    ..Thus, D313Y is a rare exonic variant with about 60% of wild-type activity in vitro and reduced activity at neutral pH, resulting in low plasma alpha-Gal A activity...
  23. pmc Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes
    David F Bishop
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Mol Med 17:748-56. 2011
    ..Of significance for therapeutic intervention, these mouse models suggest that only 11% of wild-type activity might be needed to reverse the pathology in CEP patients...
  24. pmc Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Hum Mutat 31:1240-50. 2010
    ..Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population...
  25. ncbi request reprint Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes
    Ronald B J Glass
    Department of Radiology, Mount Sinai School of Medicine, New York, NY, USA
    J Comput Assist Tomogr 28:158-68. 2004
    ....
  26. pmc Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-lin
    Manisha Balwani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Med 19:26-35. 2013
    ..Identification of XLP patients permits accurate diagnosis and counseling of at-risk relatives and asymptomatic heterozygotes...
  27. doi request reprint CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population
    Stuart A Scott
    Mount Sinai School of Medicine of New York University, Department of Genetics and Genomic Sciences, Box 1498, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Pharmacogenomics 8:721-30. 2007
    ..To determine and compare the cytochrome P450 (CYP)2C9, CYP2C19 and CYP2D6 allele and genotype frequencies in the Ashkenazi Jewish (AJ) population with other populations...
  28. pmc Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation
    Julie L Cantatore-Francis
    Department of Dermatology, New York University School of Medicine, 560 First Ave, Room H 100, New York, NY 10016, USA
    Arch Dermatol 146:529-33. 2010
    ..The disorder typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine...
  29. pmc Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions
    David F Bishop
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 78:645-58. 2006
    ..These mice provide insight into why CEP is an erythroid porphyria, and they should facilitate studies of the disease pathogenesis and therapeutic endeavors for CEP...
  30. ncbi request reprint The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study
    Melissa P Wasserstein
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Pediatrics 114:e672-7. 2004
    ..The objectives of this study were to document the natural history of the disease in a large, clinically heterogeneous patient population that was followed for a period of 10 years and to determine how genotype influences phenotype...
  31. ncbi request reprint Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population
    Ruth Kornreich
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Genet Med 6:415-20. 2004
    ..In addition, the CF mutation frequencies in a group of > 7,000 screenees for AJ diseases who were of < 100% AJ descent are reported...
  32. ncbi request reprint Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029
    Hum Mol Genet 3:1795-9. 1994
    ....
  33. pmc Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
    A K Topaloglu
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Mol Med 5:806-11. 1999
    ..2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 30 unrelated families was determined to provide precise heterozygote detection, prenatal diagnosis, and define genotype-phenotype correlations...
  34. pmc Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles
    M Mendez
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 63:1363-75. 1998
    ....
  35. pmc Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver
    Makiko Yasuda
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America
    Mol Med 21:487-95. 2015
    ..Additionally, they indicate that substrate inhibition of hepatic HMB synthase activity by PBG is not a pathogenic mechanism in acute attacks. ..
  36. pmc Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses
    Sonia Clavero
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Vet J 198:720-2. 2013
    ..Thus, although erythrodontia is a classic sign of congenital erythropoietic porphyria in human beings, cats with erythrodontia may have acute intermittent porphyria, a hepatic porphyria...
  37. pmc A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci
    Eimear E Kenny
    Department of Computer Sciences, Columbia University, New York, New York, United States of America
    PLoS Genet 8:e1002559. 2012
    ..2% of the total genetic variance for CD risk in the AJ population. This study demonstrates the complementary value of genetic studies in the Ashkenazim...
  38. pmc Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
    Sonia Clavero
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
    Hum Mol Genet 19:584-96. 2010
    ..These animal models may permit further investigation of the pathogenesis of the acute, life-threatening neurological attacks in human AIP and the evaluation of therapeutic strategies. GenBank Accession Numbers: GQ850461-GQ850464...
  39. ncbi request reprint Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology
    Lisa Edelmann
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Genet Med 6:431-8. 2004
    ..To validate a novel BeadChip assay system for cystic fibrosis (CF) mutation testing using the panel of 25 ACMG recommended mutations and D1152H...
  40. ncbi request reprint Lipid abnormalities in children with types A and B Niemann Pick disease
    Margaret M McGovern
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Pediatr 145:77-81. 2004
    ..To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype...
  41. pmc Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study
    Inga Peter
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 USA
    BMC Med Genet 12:63. 2011
    ..We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population...
  42. ncbi request reprint Ocular manifestations of Niemann-Pick disease type B
    Margaret M McGovern
    Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Ophthalmology 111:1424-7. 2004
    ..To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B)...
  43. ncbi request reprint Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
    Maryam Banikazemi
    Mount Sinai School of Medicine of New York University, New York, New York, USA
    Ann Intern Med 146:77-86. 2007
    ..Fabry disease (alpha-galactosidase A deficiency) is a rare, X-linked lysosomal storage disorder that can cause early death from renal, cardiac, and cerebrovascular involvement...
  44. ncbi request reprint Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, Fifth Avenue and 100th Street, New York, NY 10029, USA
    Nephrol Ther 2:S172-85. 2006
    ..The Phase 4 trial results also emphasize the importance of early treatment. In sum, these clinical trials provide the evidence-based safety and efficacy of Fabrazyme replacement therapy for Fabry disease...
  45. doi request reprint Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease
    Robert Dobrovolny
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Hum Mutat 32:688-95. 2011
    ..This method can identify gene rearrangements that may be cryptic to genomic DNA sequencing and can be readily adapted to other X-linked or autosomal dominant genes...
  46. pmc AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function
    Makiko Yasuda
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Mol Ther 18:17-22. 2010
    ..Thus, liver-directed gene therapy provided successful long-term correction of the hepatic metabolic abnormalities and improved neuromotor function in the murine model of human AIP...
  47. ncbi request reprint Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation
    A De Siervi
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet 86:366-75. 1999
    ....
  48. pmc Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029 6574
    Am J Hum Genet 53:1186-97. 1993
    ..These studies revealed that most alpha-Gal A lesions were private, that codon 227 was a mutational hot spot, and that certain mutations predicted a milder disease phenotype...
  49. ncbi request reprint Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families
    S Laradi
    Mount Sinai School of Medicine, New York University, New York, NY 10029, USA
    J Inherit Metab Dis 28:1019-26. 2005
    ..The identification of these mutations and their genotype-phenotype correlations should facilitate prenatal diagnosis and counselling for MPS I in Tunisia, where a very high rate of consanguinity exists...
  50. pmc Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene
    W Xu
    Department of Human Genetics, Mount Sinai School of Medicine, New York 10029
    J Clin Invest 95:905-12. 1995
    ..The amount of residual activity expressed by each allele provided a basis to correlate genotype with disease severity, thereby permitting genotype/phenotype predictions in this clinically heterogeneous disease...
  51. ncbi request reprint Genomic structure, chromosomal localization, and expression of human cathepsin W
    T Wex
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, 10029, USA
    Biochem Biophys Res Commun 248:255-61. 1998
    ..Furthermore, human cathepsin W cDNA was expressed, and was found to be localized within the rough endoplasmic reticulum in transiently transfected Cos-7 and Hela cells...
  52. ncbi request reprint The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A
    R W Gotlib
    Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA
    Biochem Mol Med 57:139-48. 1996
    ....
  53. pmc Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Med 3:174-82. 1997
    ..1. To determine the nature and frequency of the molecular lesions causing the classical and milder variant Fabry phenotypes and for precise carrier detection, the alpha-Gal A lesions in 42 unrelated Fabry hemizygotes were determined...
  54. ncbi request reprint Murine alpha-N-acetylgalactosaminidase: isolation and expression of a full-length cDNA and genomic organization: further evidence of an alpha-galactosidase gene family
    A M Wang
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, 10029, USA
    Mol Genet Metab 65:165-73. 1998
    ..The availability of the murine gene will permit additional evolutionary comparisons, structure/function analyses, and the generation of mice with alpha-GalNAc deficiency by gene targeting...
  55. doi request reprint An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy
    Minjie Luo
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New York, USA
    Genet Med 16:149-56. 2014
    ..We hypothesized that identification of deletion and/or duplication founder alleles might provide an approach to identify silent carriers in various ethnic groups...
  56. doi request reprint The porphyrias: advances in diagnosis and treatment
    Manisha Balwani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
    Hematology Am Soc Hematol Educ Program 2012:19-27. 2012
    ..These developments are reviewed to update hematologists on the latest advances in these diverse disorders...
  57. doi request reprint High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease
    Grace A Ashley
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, NY 10029, USA
    J Investig Med 50:185-92. 2002
    ..To date, there have been no studies on the regulation of this "housekeeping" gene...
  58. pmc Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
    Turgut Tukel
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Am J Hum Genet 87:289-96. 2010
    ....
  59. pmc Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation
    Makiko Yasuda
    Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madison Avenue, New York, NY 10029, USA
    Am J Hum Genet 73:162-73. 2003
    ..Characterization of these 3' mutations identified a novel molecular mechanism causing classical Fabry disease...
  60. ncbi request reprint Growth restriction in children with type B Niemann-Pick disease
    Melissa P Wasserstein
    Department of Human Genetics, and the Carl C Icahn Institute for Gene Therapy and Molecular Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Pediatr 142:424-8. 2003
    ..To compare growth of children with type B Niemann-Pick disease (NPD) with disease variables including genotype, organomegaly, bone age, and serum insulin-like growth factor-1 (IGF-1)...
  61. ncbi request reprint Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
    Melissa P Wasserstein
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Pediatr 149:554-9. 2006
    ..To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B...
  62. ncbi request reprint Human uroporphyrinogen III synthase: NMR-based mapping of the active site
    Luis Cunha
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York 10029 6574, USA
    Proteins 71:855-73. 2008
    ..The absence of chemical shift changes in the (15)N spectrum of URO-synthase mixed with the homogeneous HMB-synthase holoenzyme or URO-decarboxylase precluded occurrence of a stable cytosolic enzyme complex...
  63. ncbi request reprint Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring
    Marie E Grace
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York University, New York, New York 10029, USA
    Hum Mutat 28:866-73. 2007
    ..Recognition of these mutations, particularly G102S, will facilitate the use and interpretation of plasma Chito activities for disease diagnosis, estimating disease severity, and monitoring therapeutic efficacy in GD...
  64. pmc The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations
    Calogera M Simonaro
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 71:1413-9. 2002
    ..These data provide the first extensive demographic assessment of this disorder and describe several new mutations that can be used to predict phenotypic outcome and to gain new insights into the structure and function of ASM...
  65. doi request reprint Morbidity and mortality in type B Niemann-Pick disease
    Margaret M McGovern
    Department of Pediatrics, Stony Brook School of Medicine, Stony Brook, New York, USA
    Genet Med 15:618-23. 2013
    ..The purpose of this study was to perform a systematic evaluation of morbidity and mortality in type B Niemann-Pick disease...
  66. pmc Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria
    David F Bishop
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, Mount Sinai Medical Center, New York, New York 10029, USA
    Mol Med 19:18-25. 2013
    ..Thus, these ALAS2 gain-of-function mutations increased the specific activity (ΔAT, ΔAGTG and p.Q548X) or stability (ΔG) of the enzyme, thereby leading to the increased erythroid protoporphyrin accumulation causing XLP...
  67. ncbi request reprint Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Ann Intern Med 138:338-46. 2003
    ....
  68. pmc Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families
    Turgut Tukel
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York 10029, USA
    Am J Hum Genet 74:623-36. 2004
    ..Although the AJ controls appear to have a higher frequency of CARD15 mutations than the SOJ controls, it is unlikely that this difference fully explains the excess frequency of CD in the AJ population...
  69. ncbi request reprint Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis?
    Maryam Banikazemi
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, NY 10029 6574, USA
    Nat Clin Pract Nephrol 2:72-3. 2006
  70. ncbi request reprint Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy
    Maryam Banikazemi
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, NY 1029, USA
    Mol Genet Metab 85:255-9. 2005
    ..In such patients, enzyme replacement at 1 mg/kg effects an early and significant clinical improvement in the gastrointestinal manifestations of Fabry disease...
  71. ncbi request reprint Acute intermittent porphyria: vector optimization for gene therapy
    Makiko Yasuda
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Gene Med 9:806-11. 2007
    ..Since the disease is a hepatic encephalopathy, efforts were focused towards evaluating four different combinations of liver-specific enhancers and promoters for maximal hepatic HMB-synthase expression...
  72. ncbi request reprint Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients
    O Levran
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029
    Blood 80:2081-7. 1992
    ....
  73. ncbi request reprint Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
    B D Gelb
    Department of Human Genetics and Division of Pediatric Cardiology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Science 273:1236-8. 1996
    ..These findings suggest that cathepsin K is a major protease in bone resorption, providing a possible rationale for the treatment of disorders such as osteoporosis and certain forms of arthritis...
  74. ncbi request reprint Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation
    T Kunieda
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Genomics 29:582-7. 1995
    ..Thus, we conclude that 507insC is the causative mutation in these animals and that the MPS VI rats are an authentic model of human MPS VI...
  75. ncbi request reprint Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients
    S Laradi
    Mount Sinai School of Medicine of New York University, NY, USA
    Mol Genet Metab 87:213-8. 2006
    ..These molecular findings provide genotype/phenotype correlations, and permit accurate carrier detection, prenatal diagnosis, and counseling for MPS IVA disease in Tunisia where first cousin consanguineous mating remains frequent...
  76. pmc Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region
    D F Bishop
    Division of Medical Genetics, Mount Sinai School of Medicine, New York, NY 10029
    Proc Natl Acad Sci U S A 85:3903-7. 1988
    ..The unique lack of a 3' untranslated sequence in the alpha-galactosidase A cDNA was confirmed by sequencing additional cDNA clones and the genomic 3' region...
  77. pmc Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6
    Wanqiong Qiao
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, 10029
    Hum Mutat 37:315-23. 2016
    ....
  78. pmc Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice
    Adel Shalata
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel Clalit Health Services Group, 30810 Sakhnin City, Israel Electronic address
    Am J Hum Genet 93:1061-71. 2013
    ..Thus, loss of the ciliary protein CEP19 in humans and mice causes morbid obesity and defines a target for investigating the molecular pathogenesis of this disease and potential treatments for obesity and malnutrition. ..
  79. ncbi request reprint Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene
    Amr A Shady
    Department of Human Genetics, Mount Sinai School of Medicine, New York University, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Br J Haematol 117:980-7. 2002
    ..The identification and expression of these mutations provided genotype-phenotype correlations and further evidence of the molecular heterogeneity underlying this erythropoietic porphyria...
  80. pmc Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele
    Manisha Balwani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, Fifth Avenue at 100th Street, Box 1498, New York, NY 10029, USA
    J Inherit Metab Dis 34:789-93. 2011
    ..1226A>G allele and the pseudogene, gene conversion, or a new c.1226A>G mutation on the RecNcil background. This novel complex allele highlights a limitation of carrier screening for GD...
  81. ncbi request reprint Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials
    M M McGovern
    Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Neurology 66:228-32. 2006
    ..To describe the disease course and natural history of Type A Niemann-Pick disease (NPD)...
  82. pmc Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22
    J A Martignetti
    Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Am J Hum Genet 64:801-7. 1999
    ....
  83. ncbi request reprint Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene
    B D Gelb
    Division of Pediatric Cardiology, Mount Sinai School of Medicine, New York, New York, 10029, USA
    Biochem Mol Med 59:200-6. 1996
    ..The availability of the mouse cathepsin K cDNA and genomic sequences will facilitate generation of a mouse model of cathepsin K deficiency by gene targeting...
  84. ncbi request reprint Structure and chromosomal assignment of the human cathepsin K gene
    B D Gelb
    Division of Pediatric Cardiology, Mount Sinai School of Medicine, New York, New York 10029, USA
    Genomics 41:258-62. 1997
    ..These findings expand our understanding of the papain family lysosomal cysteine proteases and should facilitate mutation analysis in pycnodysostosis...
  85. pmc Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients
    M E Grace
    Department of Human Genetics, Mount Sinai School of Medicine, New York 10029 6574, USA
    J Clin Invest 99:2530-7. 1997
    ..These mutations further expand the genetic heterogeneity in the lesions causing Gaucher disease types 1 and 2, and further delineate genotype/phenotype correlations and functional domains within the acid beta-glucosidase gene...
  86. ncbi request reprint Prenatal genetic carrier testing using triple disease screening
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    JAMA 278:1268-72. 1997
    ..However, simultaneous prenatal carrier screening for prevalent genetic disease has not been evaluated, and patient acceptance and attitudes toward this testing strategy remain undefined...
  87. pmc Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis
    B D Gelb
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA
    Am J Hum Genet 62:848-54. 1998
    ..This patient represents the first case of paternal uniparental disomy of chromosome 1 and provides conclusive evidence that paternally derived genes on human chromosome 1 are not imprinted...
  88. ncbi request reprint Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease
    C M Eng
    Mount Sinai School of Medicine, New York, NY 10029, USA
    N Engl J Med 345:9-16. 2001
    ....
  89. ncbi request reprint Gene therapy for genetic diseases
    R J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Acta Paediatr Jpn 40:191-203. 1998
    ..Each of these gene delivery systems is reviewed here and their advantages and disadvantages compared. In addition, the current status and future prospects for human gene therapy trials for genetic diseases are discussed...
  90. ncbi request reprint Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome
    J A Martignetti
    Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, Fifth Avenue at 100th Street, New York, New York, USA
    Nat Genet 28:261-5. 2001
    ..Based on molecular modeling, the missense mutation disrupts hydrogen bond formation within the highly conserved prodomain adjacent to the catalytic zinc ion...
  91. pmc Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria
    C Solis
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    J Clin Invest 107:753-62. 2001
    ....
  92. pmc Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice
    Y A Ioannou
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 68:14-25. 2001
    ....
  93. pmc The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1
    J A Martignetti
    Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, NY 10029
    Am J Hum Genet 66:1449-54. 2000
    ..7 Mb. These results significantly narrow the region in which the MHA gene is located, and they represent the first use of chromosome 22 data to positionally clone a disease gene...
  94. ncbi request reprint Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation
    M P Wasserstein
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet 84:334-9. 1999
    ..Since lytic mandibular lesions may be complicated by osteomyelitis, pathologic fracture, and tooth loss, regular dental assessments in Type 1 Gaucher patients should be performed...
  95. 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...
  96. ncbi request reprint Quality assurance in molecular genetic testing laboratories
    M M McGovern
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    JAMA 281:835-40. 1999
    ..However, comprehensive analysis of current practices of such laboratories, important for assessing the need for regulation and its impact on access to testing, has not been conducted...
  97. pmc Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility
    Y A Ioannou
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Biochem J 332:789-97. 1998
    ....
  98. ncbi request reprint Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome
    G A Diaz
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Nat Genet 22:309-12. 1999
    ..The sequence homology and predicted structure of SLC19A2, as well as its role in TRMA, suggest that its gene product is a thiamine carrier, the first to be identified in complex eukaryotes...
  99. ncbi request reprint Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene
    R Kornreich
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
    J Biol Chem 265:9319-26. 1990
    ..These studies indicate that short direct repeats are important in the formation of gene rearrangements, even in human genes like alpha-galactosidase A that are rich in Alu repetitive elements...
  100. ncbi request reprint Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene
    A M Wang
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
    Genomics 10:133-42. 1991
    ....
  101. pmc Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion
    Y A Ioannou
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York 10029
    J Cell Biol 119:1137-50. 1992
    ..A significant proportion of these enzyme aggregates are unable to bind the M6PR and are selectively secreted via the constitutive secretory pathway, while endogenous lysosomal enzymes bind the M6PRs and are transported to lysosomes...