165 related articles for article (PubMed ID: 1740330)
1. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).
Schuchman EH; Levran O; Pereira LV; Desnick RJ
Genomics; 1992 Feb; 12(2):197-205. PubMed ID: 1740330
[TBL] [Abstract][Full Text] [Related]
2. 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
J Biol Chem; 1991 May; 266(13):8531-9. PubMed ID: 1840600
[TBL] [Abstract][Full Text] [Related]
3. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4.
da Veiga Pereira L; Desnick RJ; Adler DA; Disteche CM; Schuchman EH
Genomics; 1991 Feb; 9(2):229-34. PubMed ID: 2004772
[TBL] [Abstract][Full Text] [Related]
4. A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region.
Wan Q; Schuchman EH
Biochim Biophys Acta; 1995 Apr; 1270(2-3):207-10. PubMed ID: 7727545
[TBL] [Abstract][Full Text] [Related]
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
J Biol Chem; 1992 Jun; 267(18):12552-8. PubMed ID: 1618760
[TBL] [Abstract][Full Text] [Related]
6. Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene.
Newrzella D; Stoffel W
Biol Chem Hoppe Seyler; 1992 Dec; 373(12):1233-8. PubMed ID: 1292508
[TBL] [Abstract][Full Text] [Related]
7. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P; Matta D; Bhavani GS; Wangnekar S; Jain JM; Verma IC; Kabra M; Puri RD; Danda S; Gupta N; Girisha KM; Sankar VH; Patil SJ; Ramadevi AR; Bhat M; Gowrishankar K; Mandal K; Aggarwal S; Tamhankar PM; Tilak P; Phadke SR; Dalal A
Am J Med Genet A; 2016 Oct; 170(10):2719-30. PubMed ID: 27338287
[TBL] [Abstract][Full Text] [Related]
8. An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.
Ota S; Noguchi A; Kondo D; Nakajima Y; Ito T; Arai H; Takahashi T
Tohoku J Exp Med; 2020 Jan; 250(1):5-11. PubMed ID: 31941852
[TBL] [Abstract][Full Text] [Related]
9. 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.
Wang AM; Desnick RJ
Genomics; 1991 May; 10(1):133-42. PubMed ID: 1646157
[TBL] [Abstract][Full Text] [Related]
10. Additional organizational features of the murine folylpolyglutamate synthetase gene. Two remotely situated exons encoding an alternate 5' end and proximal open reading frame under the control of a second promoter.
Roy K; Mitsugi K; Sirotnak FM
J Biol Chem; 1997 Feb; 272(9):5587-93. PubMed ID: 9038166
[TBL] [Abstract][Full Text] [Related]
11. 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
Proc Natl Acad Sci U S A; 1991 May; 88(9):3748-52. PubMed ID: 2023926
[TBL] [Abstract][Full Text] [Related]
12. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.
Simonaro CM; Park JH; Eliyahu E; Shtraizent N; McGovern MM; Schuchman EH
Am J Hum Genet; 2006 May; 78(5):865-870. PubMed ID: 16642440
[TBL] [Abstract][Full Text] [Related]
13. Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.
Aykut A; Karaca E; Onay H; Ucar SK; Coker M; Cogulu O; Ozkinay F
Gene; 2013 Sep; 526(2):484-6. PubMed ID: 23618813
[TBL] [Abstract][Full Text] [Related]
14. Structural analysis of the human RFC-1 gene encoding a folate transporter reveals multiple promoters and alternatively spliced transcripts with 5' end heterogeneity.
Tolner B; Roy K; Sirotnak FM
Gene; 1998 May; 211(2):331-41. PubMed ID: 9602167
[TBL] [Abstract][Full Text] [Related]
15. Growth regulation, acid sphingomyelinase gene and genomic imprinting: lessons from an experiment of nature.
Réthy LA
Pathol Oncol Res; 2000; 6(4):298-300. PubMed ID: 11310411
[TBL] [Abstract][Full Text] [Related]
16. Complete genomic organization of the human erythroid p55 gene (MPP1), a membrane-associated guanylate kinase homologue.
Kim AC; Metzenberg AB; Sahr KE; Marfatia SM; Chishti AH
Genomics; 1996 Jan; 31(2):223-9. PubMed ID: 8824805
[TBL] [Abstract][Full Text] [Related]
17. SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S; Filocamo M; Pianta A; Lualdi S; Gort L; Coll MJ; Sinnott R; Geberhiwot T; Bembi B; Dardis A
Hum Mutat; 2016 Feb; 37(2):139-47. PubMed ID: 26499107
[TBL] [Abstract][Full Text] [Related]
18. Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
Rhein C; Mühle C; Kornhuber J; Reichel M
Int J Mol Sci; 2015 Jun; 16(6):13649-52. PubMed ID: 26084044
[TBL] [Abstract][Full Text] [Related]
19. 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
Proc Natl Acad Sci U S A; 1992 Apr; 89(8):3227-31. PubMed ID: 1565614
[TBL] [Abstract][Full Text] [Related]
20. 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
Blood; 1992 Oct; 80(8):2081-7. PubMed ID: 1391960
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]