Hofmann SL - Search Results

1

Thematic review series: lipid posttranslational modifications. Lysosomal metabolism of lipid-modified proteins.

Lu JY, Hofmann SL. Lu JY, et al. Among authors: hofmann sl. J Lipid Res. 2006 Jul;47(7):1352-7. doi: 10.1194/jlr.R600010-JLR200. Epub 2006 Apr 20. J Lipid Res. 2006. PMID: 16627894 Free article. Review.

2

The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function.

Lu JY, Verkruyse LA, Hofmann SL. Lu JY, et al. Among authors: hofmann sl. Biochim Biophys Acta. 2002 Jun 13;1583(1):35-44. doi: 10.1016/s1388-1981(02)00158-0. Biochim Biophys Acta. 2002. PMID: 12069847

3

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).

Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY. Hofmann SL, et al. Curr Mol Med. 2002 Aug;2(5):423-37. doi: 10.2174/1566524023362294. Curr Mol Med. 2002. PMID: 12125808 Review.

4

Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.

Hu J, Lu JY, Wong AM, Hynan LS, Birnbaum SG, Yilmaz DS, Streit BM, Lenartowicz EM, Thompson TC, Cooper JD, Hofmann SL. Hu J, et al. Among authors: hofmann sl. Mol Genet Metab. 2012 Sep;107(1-2):213-21. doi: 10.1016/j.ymgme.2012.05.009. Epub 2012 May 22. Mol Genet Metab. 2012. PMID: 22704978 Free PMC article.

5

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Das AK, Becerra CH, Yi W, Lu JY, Siakotos AN, Wisniewski KE, Hofmann SL. Das AK, et al. Among authors: hofmann sl. J Clin Invest. 1998 Jul 15;102(2):361-70. doi: 10.1172/JCI3112. J Clin Invest. 1998. PMID: 9664077 Free PMC article.

6

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.

Hofmann SL, Das AK, Yi W, Lu JY, Wisniewski KE. Hofmann SL, et al. Mol Genet Metab. 1999 Apr;66(4):234-9. doi: 10.1006/mgme.1999.2803. Mol Genet Metab. 1999. PMID: 10191107

7

Positional candidate gene cloning of CLN1.

Hofmann SL, Das AK, Lu JY, Soyombo AA. Hofmann SL, et al. Adv Genet. 2001;45:69-92. doi: 10.1016/s0065-2660(01)45004-8. Adv Genet. 2001. PMID: 11332777 Review.

8

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

Das AK, Lu JY, Hofmann SL. Das AK, et al. Among authors: hofmann sl. Hum Mol Genet. 2001 Jun 15;10(13):1431-9. doi: 10.1093/hmg/10.13.1431. Hum Mol Genet. 2001. PMID: 11440996

9

Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease.

Hofmann SL, Das AK, Lu JY, Wisniewski KE, Gupta P. Hofmann SL, et al. Eur J Paediatr Neurol. 2001;5 Suppl A:47-51. doi: 10.1053/ejpn.2000.0434. Eur J Paediatr Neurol. 2001. PMID: 11589007

10

Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response.

Qiao X, Lu JY, Hofmann SL. Qiao X, et al. Among authors: hofmann sl. BMC Neurosci. 2007 Nov 16;8:95. doi: 10.1186/1471-2202-8-95. BMC Neurosci. 2007. PMID: 18021406 Free PMC article.

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