M Suchi

Summary

Affiliation: University of Michigan
Country: USA

Publications

  1. pmc Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families
    M Suchi
    Department of Pediatrics, Nagoya City University Medical School
    Am J Hum Genet 60:525-39. 1997
  2. ncbi Molecular cloning and structural characterization of the human histidase gene (HAL)
    M Suchi
    Department of Pediatrics, Nagoya City University Medical School, Japan
    Genomics 29:98-104. 1995
  3. ncbi Isolation of a rat histidase cDNA sequence and expression in Escherichia coli--evidence of extrahepatic/epidermal distribution
    H Sano
    Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan
    Eur J Biochem 250:212-21. 1997
  4. ncbi Molecular cloning of human UMP synthase
    M Suchi
    Department of Pediatrics, Nagoya City University Medical School, Japan
    Adv Exp Med Biol 253:511-8. 1989
  5. ncbi Molecular cloning of a cDNA encoding human histidase
    M Suchi
    Department of Pediatrics, Nagoya City University Medical School, Aichi, Japan
    Biochim Biophys Acta 1216:293-5. 1993
  6. ncbi Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease
    T Takahashi
    Department of Pediatrics, Akita University School of Medicine, Japan
    Tohoku J Exp Med 177:117-23. 1995
  7. ncbi Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms
    T Takahashi
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
    J Biol Chem 267:12552-8. 1992
  8. pmc Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts
    L E Quintern
    Institut für Organische Chemie und Biochemie der Universitat Bonn FRG
    EMBO J 8:2469-73. 1989
  9. ncbi Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs
    E H Schuchman
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
    J Biol Chem 266:8531-9. 1991
  10. pmc An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)
    E H Schuchman
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029
    Nucleic Acids Res 19:3160. 1991

Collaborators

Detail Information

Publications11

  1. pmc Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families
    M Suchi
    Department of Pediatrics, Nagoya City University Medical School
    Am J Hum Genet 60:525-39. 1997
    ..We further establish the identity of two polymorphisms, G213A (v = .26) and 440Gpoly (v = .27) located in exons 3 and 6, respectively, which did not significantly compromise either OPRT or ODC function...
  2. ncbi Molecular cloning and structural characterization of the human histidase gene (HAL)
    M Suchi
    Department of Pediatrics, Nagoya City University Medical School, Japan
    Genomics 29:98-104. 1995
    ..The human histidase genomic structure presented here should facilitate the molecular investigation of symptomatic and asymptomatic forms of histidinemia...
  3. ncbi Isolation of a rat histidase cDNA sequence and expression in Escherichia coli--evidence of extrahepatic/epidermal distribution
    H Sano
    Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan
    Eur J Biochem 250:212-21. 1997
    ..Furthermore, in contrast with previous reports of activity confined to epidermal stratum corneum, our findings demonstrate immunoreactive protein within and limited to the adjacent stratum granulosum...
  4. ncbi Molecular cloning of human UMP synthase
    M Suchi
    Department of Pediatrics, Nagoya City University Medical School, Japan
    Adv Exp Med Biol 253:511-8. 1989
  5. ncbi Molecular cloning of a cDNA encoding human histidase
    M Suchi
    Department of Pediatrics, Nagoya City University Medical School, Aichi, Japan
    Biochim Biophys Acta 1216:293-5. 1993
    ..The cDNA predicted a 657 amino acid protein of 72,651 Da. The human histadase amino acid sequence was 93% conserved with both rat and mouse histidase sequences, including four N-glycosylation consensus sites...
  6. ncbi Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease
    T Takahashi
    Department of Pediatrics, Akita University School of Medicine, Japan
    Tohoku J Exp Med 177:117-23. 1995
    ..A new mutation, Y446C, was identified. The authenticity of this lesion was demonstrated by the expression of the Y446C allele in COS-1 cells. No residual ASM activity was detected from the expression of the Y446C...
  7. ncbi Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms
    T Takahashi
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
    J Biol Chem 267:12552-8. 1992
    ..These findings have facilitated genotype/phenotype correlations for this lysosomal storage disease and provided insights into the functional organization of the ASM polypeptide...
  8. pmc Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts
    L E Quintern
    Institut für Organische Chemie und Biochemie der Universitat Bonn FRG
    EMBO J 8:2469-73. 1989
    ..These findings demonstrate the presence of two distinct acid sphingomyelinase transcripts in human fibroblasts and placenta and suggest the occurrence of alternative processing of the mRNA encoding this lysosomal hydrolase...
  9. ncbi Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs
    E H Schuchman
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
    J Biol Chem 266:8531-9. 1991
    ..The type 3 cDNA resulted from an alternative splicing event, which excised the 172-bp exon. These studies demonstrate the occurrence of alternatively splicing of the ASM transcript, but the existence of only one functional mRNA...
  10. pmc An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)
    E H Schuchman
    Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029
    Nucleic Acids Res 19:3160. 1991
  11. ncbi DOTS expansion: will we reach the 2005 targets?
    L J Véron
    World Health Organization, Stop TB Department, Geneva, Switzerland
    Int J Tuberc Lung Dis 8:139-46. 2004
    ..The current efforts should be maintained and strengthened in order to approach these targets...