Schuchman EH - Search Results

1

Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function.

Marathe S, Miranda SR, Devlin C, Johns A, Kuriakose G, Williams KJ, Schuchman EH, Tabas I. Marathe S, et al. Among authors: schuchman eh. Hum Mol Genet. 2000 Aug 12;9(13):1967-76. doi: 10.1093/hmg/9.13.1967. Hum Mol Genet. 2000. PMID: 10942425

2

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

Takahashi T, Desnick RJ, Takada G, Schuchman EH. Takahashi T, et al. Among authors: schuchman eh. Hum Mutat. 1992;1(1):70-1. doi: 10.1002/humu.1380010111. Hum Mutat. 1992. PMID: 1301192 No abstract available.

3

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Among authors: schuchman eh. Blood. 1992 Oct 15;80(8):2081-7. Blood. 1992. PMID: 1391960 Free article.

4

Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells.

Suchi M, Dinur T, Desnick RJ, Gatt S, Pereira L, Gilboa E, Schuchman EH. Suchi M, et al. Among authors: schuchman eh. Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3227-31. doi: 10.1073/pnas.89.8.3227. Proc Natl Acad Sci U S A. 1992. PMID: 1565614 Free PMC article.

5

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.

Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH. Takahashi T, et al. Among authors: schuchman eh. J Biol Chem. 1992 Jun 25;267(18):12552-8. J Biol Chem. 1992. PMID: 1618760 Free article.

6

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Among authors: schuchman eh. Proc Natl Acad Sci U S A. 1991 May 1;88(9):3748-52. doi: 10.1073/pnas.88.9.3748. Proc Natl Acad Sci U S A. 1991. PMID: 2023926 Free PMC article.

7

Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction.

Yeyati PL, Agmon V, Fillat C, Dinur T, Dagan A, Desnick RJ, Gatt S, Schuchman EH. Yeyati PL, et al. Among authors: schuchman eh. Hum Gene Ther. 1995 Aug;6(8):975-83. doi: 10.1089/hum.1995.6.8-975. Hum Gene Ther. 1995. PMID: 7578419

8

Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.

Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH. Horinouchi K, et al. Among authors: schuchman eh. Nat Genet. 1995 Jul;10(3):288-93. doi: 10.1038/ng0795-288. Nat Genet. 1995. PMID: 7670466

9

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Among authors: schuchman eh. Hum Mutat. 1993;2(4):317-9. doi: 10.1002/humu.1380020414. Hum Mutat. 1993. PMID: 8401540 No abstract available.

10

Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Among authors: schuchman eh. Hum Mol Genet. 1993 Feb;2(2):205-6. doi: 10.1093/hmg/2.2.205. Hum Mol Genet. 1993. PMID: 8499909 No abstract available.

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