Schuchman EH - Search Results

1

Systemic ceramide accumulation leads to severe and varied pathological consequences.

Alayoubi AM, Wang JC, Au BC, Carpentier S, Garcia V, Dworski S, El-Ghamrasni S, Kirouac KN, Exertier MJ, Xiong ZJ, Privé GG, Simonaro CM, Casas J, Fabrias G, Schuchman EH, Turner PV, Hakem R, Levade T, Medin JA. Alayoubi AM, et al. Among authors: schuchman eh. EMBO Mol Med. 2013 Jun;5(6):827-42. doi: 10.1002/emmm.201202301. Epub 2013 May 16. EMBO Mol Med. 2013. PMID: 23681708 Free PMC article.

2

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.

Simonaro CM, Schuchman EH. Simonaro CM, et al. Among authors: schuchman eh. Biochim Biophys Acta. 1995 Dec 12;1272(3):129-32. doi: 10.1016/0925-4439(95)00070-4. Biochim Biophys Acta. 1995. PMID: 8541342 Free article.

3

Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses.

Simonaro CM, Haskins ME, Schuchman EH. Simonaro CM, et al. Among authors: schuchman eh. Lab Invest. 2001 Sep;81(9):1319-28. doi: 10.1038/labinvest.3780345. Lab Invest. 2001. PMID: 11555679 Free article.

4

Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes.

Li CM, Park JH, Simonaro CM, He X, Gordon RE, Friedman AH, Ehleiter D, Paris F, Manova K, Hepbildikler S, Fuks Z, Sandhoff K, Kolesnick R, Schuchman EH. Li CM, et al. Among authors: schuchman eh. Genomics. 2002 Feb;79(2):218-24. doi: 10.1006/geno.2002.6686. Genomics. 2002. PMID: 11829492

5

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. Simonaro CM, et al. Among authors: schuchman eh. Am J Hum Genet. 2002 Dec;71(6):1413-9. doi: 10.1086/345074. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369017 Free PMC article.

6

Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models.

Simonaro CM, D'Angelo M, Haskins ME, Schuchman EH. Simonaro CM, et al. Among authors: schuchman eh. Pediatr Res. 2005 May;57(5 Pt 1):701-7. doi: 10.1203/01.PDR.0000156510.96253.5A. Epub 2005 Mar 3. Pediatr Res. 2005. PMID: 15746260

7

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. Simonaro CM, et al. Among authors: schuchman eh. Am J Hum Genet. 2006 May;78(5):865-870. doi: 10.1086/503750. Epub 2006 Mar 14. Am J Hum Genet. 2006. PMID: 16642440 Free PMC article.

8

Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases.

Simonaro CM, D'Angelo M, He X, Eliyahu E, Shtraizent N, Haskins ME, Schuchman EH. Simonaro CM, et al. Among authors: schuchman eh. Am J Pathol. 2008 Jan;172(1):112-22. doi: 10.2353/ajpath.2008.070564. Epub 2007 Dec 13. Am J Pathol. 2008. PMID: 18079441 Free PMC article.

9

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

Desnick JP, Kim J, He X, Wasserstein MP, Simonaro CM, Schuchman EH. Desnick JP, et al. Among authors: schuchman eh. Mol Med. 2010 Jul-Aug;16(7-8):316-21. doi: 10.2119/molmed.2010.00017. Epub 2010 Apr 6. Mol Med. 2010. PMID: 20386867 Free PMC article.

10

Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI.

Eliyahu E, Wolfson T, Ge Y, Jepsen KJ, Schuchman EH, Simonaro CM. Eliyahu E, et al. Among authors: schuchman eh. PLoS One. 2011;6(8):e22447. doi: 10.1371/journal.pone.0022447. Epub 2011 Aug 22. PLoS One. 2011. PMID: 21887218 Free PMC article.

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