Suchi M - Search Results

1

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: suchi m. J Biol Chem. 1992 Jun 25;267(18):12552-8. J Biol Chem. 1992. PMID: 1618760 Free article.

2

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. 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.

3

An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1).

Schuchman EH, Levran O, Suchi M, Desnick RJ. Schuchman EH, et al. Among authors: suchi m. Nucleic Acids Res. 1991 Jun 11;19(11):3160. doi: 10.1093/nar/19.11.3160. Nucleic Acids Res. 1991. PMID: 1711683 Free PMC article. No abstract available.

4

Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.

Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ. Schuchman EH, et al. Among authors: suchi m. J Biol Chem. 1991 May 5;266(13):8531-9. J Biol Chem. 1991. PMID: 1840600 Free article.

Two types of partial cDNAs encoding human acid sphingomyelinase (EC 3.1.4.12; ASM) were recently isolated from fibroblast and placental cDNA libraries (Quintern, L. E., Schuchman, E.H., Levran, O., Suchi. M., Ferlinz, K., Reinke, H., Sandhoff, K., and Desnick, R. J. …

Two types of partial cDNAs encoding human acid sphingomyelinase (EC 3.1.4.12; ASM) were recently isolated from fibroblast and placental cDNA …

5

Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.

Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G. Takahashi T, et al. Among authors: suchi m. Tohoku J Exp Med. 1995 Oct;177(2):117-23. doi: 10.1620/tjem.177.117. Tohoku J Exp Med. 1995. PMID: 8693491 Free article.

6

Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin.

Dinur T, Schuchman EH, Fibach E, Dagan A, Suchi M, Desnick RJ, Gatt S. Dinur T, et al. Among authors: suchi m. Hum Gene Ther. 1992 Dec;3(6):633-9. doi: 10.1089/hum.1992.3.6-633. Hum Gene Ther. 1992. PMID: 1482703

7

Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.

Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ. Quintern LE, et al. Among authors: suchi m. EMBO J. 1989 Sep;8(9):2469-73. doi: 10.1002/j.1460-2075.1989.tb08382.x. EMBO J. 1989. PMID: 2555181 Free PMC article.

8

Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.

Imaeda M, Sumi S, Imaeda H, Suchi M, Kidouchi K, Togari H, Wada Y. Imaeda M, et al. Among authors: suchi m. Tohoku J Exp Med. 1998 May;185(1):67-70. doi: 10.1620/tjem.185.67. Tohoku J Exp Med. 1998. PMID: 9710947 Free article.

9

Noncardiogenic pulmonary edema as the chief manifestation of a pheochromocytoma: a case report of MEN 2A with pedigree analysis of the RET proto-oncogene.

Okada Y, Suchi M, Takeyama H, Hodgson ME, Kato T, Manabe T. Okada Y, et al. Among authors: suchi m. Tohoku J Exp Med. 1999 Jun;188(2):177-87. doi: 10.1620/tjem.188.177. Tohoku J Exp Med. 1999. PMID: 10526879 Free article.

10

Increase of protein synthesis by uridine supplement in lectin-stimulated peripheral blood lymphocytes and EB virus-transformed B cell line of hereditary orotic aciduria type I.

Yazaki M, Okajima K, Suchi M, Morishita H, Wada Y. Yazaki M, et al. Among authors: suchi m. Tohoku J Exp Med. 1987 Nov;153(3):189-95. doi: 10.1620/tjem.153.189. Tohoku J Exp Med. 1987. PMID: 2829387 Free article.

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