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E F Neufeld

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Articles 147
Citations 3935
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Recent Articles
1.
Neufeld E
Ups J Med Sci . 2010 Jan; 82(2):83. PMID: 20078288
No abstract available.
2.
Neufeld E, dAzzo A
Adv Genet . 2001 Oct; 44:165-71. PMID: 11596981
No abstract available.
3.
Rajavel K, Neufeld E
Mol Cell Biol . 2001 Jul; 21(16):5512-9. PMID: 11463833
Nonsense-mediated mRNA decay (NMD), the loss of mRNAs carrying premature stop codons, is a process by which cells recognize and degrade nonsense mRNAs to prevent possibly toxic effects of truncated...
4.
Kakkis E, Muenzer J, Tiller G, Waber L, Belmont J, Passage M, et al.
N Engl J Med . 2001 Feb; 344(3):182-8. PMID: 11172140
Background: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human alpha-L-iduronidase in patients with...
5.
Yu W, Zhao K, Ryazantsev S, Rozengurt N, Neufeld E
Mol Genet Metab . 2001 Jan; 71(4):573-80. PMID: 11136549
The Sanfilippo syndrome type B (MPS III B) is an autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase (EC 3. 2.1.50), one of the lysosomal enzymes required for the degradation...
6.
Zhao K, Neufeld E
Protein Expr Purif . 2000 Jun; 19(1):202-11. PMID: 10833408
alpha-N-Acetylglucosaminidase (EC 3.2.1.50) is a lysosomal enzyme that is deficient in the genetic disorder Sanfilippo syndrome type B. To study the human enzyme, we expressed its cDNA in Lec1 mutant...
7.
Ruth L, Eisenberg D, Neufeld E
Acta Crystallogr D Biol Crystallogr . 2000 Mar; 56(Pt 4):524-8. PMID: 10739940
While seeking conditions for single crystals of human alpha-L-iduronidase, solutions were discovered (pH 3.0-8.5 containing calcium or zinc salts) that transform soluble alpha-L-iduronidase to a solid aggregate. This aggregate is...
8.
Li H, Yu W, Rozengurt N, Zhao H, Lyons K, Anagnostaras S, et al.
Proc Natl Acad Sci U S A . 1999 Dec; 96(25):14505-10. PMID: 10588735
The Sanfilippo syndrome type B is an autosomal recessive disorder caused by mutation in the gene (NAGLU) encoding alpha-N-acetylglucosaminidase, a lysosomal enzyme required for the stepwise degradation of heparan sulfate....
9.
Schmidtchen A, Greenberg D, Zhao H, Li H, Huang Y, Tieu P, et al.
Am J Hum Genet . 1998 Mar; 62(1):64-9. PMID: 9443878
Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase, one of the enzymes required for the lysosomal degradation of heparan sulfate....
10.
Zhao K, Faull K, Kakkis E, Neufeld E
J Biol Chem . 1997 Sep; 272(36):22758-65. PMID: 9278435
alpha-L-Iduronidase is a lysosomal hydrolase that is deficient in Hurler syndrome and clinically milder variants. Recombinant human alpha-L-iduronidase, isolated from secretions of an overexpressing Chinese hamster ovary cell line, is...