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Items: 1 to 50 of 164

1.

Publisher Correction: Lysosomal storage diseases.

Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

Nat Rev Dis Primers. 2019 May 17;5(1):34. doi: 10.1038/s41572-019-0089-9.

PMID:
31101820
2.

Author Correction: Lysosomal storage diseases.

Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

Nat Rev Dis Primers. 2018 Oct 18;4(1):36. doi: 10.1038/s41572-018-0037-0.

PMID:
30337566
3.

Lysosomal storage diseases.

Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Review. Erratum in: Nat Rev Dis Primers. 2018 Oct 18;4(1):36. Nat Rev Dis Primers. 2019 May 17;5(1):34.

PMID:
30275469
4.

Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB.

Kan SH, Aoyagi-Scharber M, Le SQ, Vincelette J, Ohmi K, Bullens S, Wendt DJ, Christianson TM, Tiger PM, Brown JR, Lawrence R, Yip BK, Holtzinger J, Bagri A, Crippen-Harmon D, Vondrak KN, Chen Z, Hague CM, Woloszynek JC, Cheung DS, Webster KA, Adintori EG, Lo MJ, Wong W, Fitzpatrick PA, LeBowitz JH, Crawford BE, Bunting S, Dickson PI, Neufeld EF.

Proc Natl Acad Sci U S A. 2014 Oct 14;111(41):14870-5. doi: 10.1073/pnas.1416660111. Epub 2014 Sep 29.

5.

Unexpected observations--a tribute to Christian de Duve (1917-2013).

Neufeld EF.

FASEB J. 2013 Dec;27(12):4661-3. doi: 10.1096/fj.13-1201ufm. No abstract available.

PMID:
24298016
6.

Defects in the medial entorhinal cortex and dentate gyrus in the mouse model of Sanfilippo syndrome type B.

Ohmi K, Zhao HZ, Neufeld EF.

PLoS One. 2011;6(11):e27461. doi: 10.1371/journal.pone.0027461. Epub 2011 Nov 9. Erratum in: PLoS One. 2012;7(1): doi.10.1371/annotation/3de78cba-af11-4deb-939a-bf0803592d08.

7.

From serendipity to therapy.

Neufeld EF.

Annu Rev Biochem. 2011;80:1-15. doi: 10.1146/annurev.biochem.031209.093756.

PMID:
21675915
8.

Enzyme replacement therapy – a brief history.

Neufeld EF.

In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 10.

9.

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy.

Ohmi K, Kudo LC, Ryazantsev S, Zhao HZ, Karsten SL, Neufeld EF.

Proc Natl Acad Sci U S A. 2009 May 19;106(20):8332-7. doi: 10.1073/pnas.0903223106. Epub 2009 May 5.

10.

Aptamer-based endocytosis of a lysosomal enzyme.

Chen CH, Dellamaggiore KR, Ouellette CP, Sedano CD, Lizadjohry M, Chernis GA, Gonzales M, Baltasar FE, Fan AL, Myerowitz R, Neufeld EF.

Proc Natl Acad Sci U S A. 2008 Oct 14;105(41):15908-13. doi: 10.1073/pnas.0808360105. Epub 2008 Oct 6.

11.

Molecular order in mucolipidosis II and III nomenclature.

Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA.

Am J Med Genet A. 2008 Feb 15;146A(4):512-3. doi: 10.1002/ajmg.a.32193. No abstract available.

PMID:
18203164
12.

Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B.

Ryazantsev S, Yu WH, Zhao HZ, Neufeld EF, Ohmi K.

Mol Genet Metab. 2007 Apr;90(4):393-401. Epub 2006 Dec 20.

13.

Cardiac manifestations in the mouse model of mucopolysaccharidosis I.

Jordan MC, Zheng Y, Ryazantsev S, Rozengurt N, Roos KP, Neufeld EF.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):233-43. Epub 2005 Jun 24.

14.

Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB.

Zheng Y, Ryazantsev S, Ohmi K, Zhao HZ, Rozengurt N, Kohn DB, Neufeld EF.

Mol Genet Metab. 2004 Aug;82(4):286-95.

PMID:
15308126
15.

Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow.

Zheng Y, Rozengurt N, Ryazantsev S, Kohn DB, Satake N, Neufeld EF.

Mol Genet Metab. 2003 Aug;79(4):233-44.

PMID:
12948739
16.

Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB.

Ohmi K, Greenberg DS, Rajavel KS, Ryazantsev S, Li HH, Neufeld EF.

Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1902-7. Epub 2003 Feb 7.

17.

Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B.

Li HH, Zhao HZ, Neufeld EF, Cai Y, Gómez-Pinilla F.

J Neurosci Res. 2002 Jul 1;69(1):30-8.

PMID:
12111813
18.

Biosynthesis of normal and mutant beta-hexosaminidases.

Neufeld EF, d'Azzo A.

Adv Genet. 2001;44:165-71. Review. No abstract available.

PMID:
11596981
19.

Nonsense-mediated decay of human HEXA mRNA.

Rajavel KS, Neufeld EF.

Mol Cell Biol. 2001 Aug;21(16):5512-9.

20.

Enzyme-replacement therapy in mucopolysaccharidosis I.

Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, Hoft R, Neufeld EF.

N Engl J Med. 2001 Jan 18;344(3):182-8.

21.

Short-term enzyme replacement in the murine model of Sanfilippo syndrome type B.

Yu WH, Zhao KW, Ryazantsev S, Rozengurt N, Neufeld EF.

Mol Genet Metab. 2000 Dec;71(4):573-80.

PMID:
11136549
22.
23.

alpha-L-iduronidase forms semi-crystalline spherulites with amyloid-like properties.

Ruth L, Eisenberg D, Neufeld EF.

Acta Crystallogr D Biol Crystallogr. 2000 Apr;56(Pt 4):524-8.

PMID:
10739940
24.

Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase.

Li HH, Yu WH, Rozengurt N, Zhao HZ, Lyons KM, Anagnostaras S, Fanselow MS, Suzuki K, Vanier MT, Neufeld EF.

Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14505-10.

25.

NAGLU mutations underlying Sanfilippo syndrome type B.

Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF.

Am J Hum Genet. 1998 Jan;62(1):64-9.

26.

Carbohydrate structures of recombinant human alpha-L-iduronidase secreted by Chinese hamster ovary cells.

Zhao KW, Faull KF, Kakkis ED, Neufeld EF.

J Biol Chem. 1997 Sep 5;272(36):22758-65.

27.

Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I.

Kakkis ED, McEntee MF, Schmidtchen A, Neufeld EF, Ward DA, Gompf RE, Kania S, Bedolla C, Chien SL, Shull RM.

Biochem Mol Med. 1996 Aug;58(2):156-67.

PMID:
8812735
28.

The molecular basis of Sanfilippo syndrome type B.

Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF.

Proc Natl Acad Sci U S A. 1996 Jun 11;93(12):6101-5.

29.

Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF.

Hum Mutat. 1995;6(1):55-9.

PMID:
7550232
30.

Enzyme replacement in a canine model of Hurler syndrome.

Shull RM, Kakkis ED, McEntee MF, Kania SA, Jonas AJ, Neufeld EF.

Proc Natl Acad Sci U S A. 1994 Dec 20;91(26):12937-41.

31.

Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.

Menon KP, Neufeld EF.

Cell Mol Biol (Noisy-le-grand). 1994 Nov;40(7):999-1005.

PMID:
7849567
32.

Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells.

Kakkis ED, Matynia A, Jonas AJ, Neufeld EF.

Protein Expr Purif. 1994 Jun;5(3):225-32.

PMID:
7950365
33.

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

Tieu PT, Menon K, Neufeld EF.

Hum Mutat. 1994;3(3):333-6. No abstract available.

PMID:
8019572
34.
35.

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

Moskowitz SM, Tieu PT, Neufeld EF.

Hum Mutat. 1993;2(1):71-3. No abstract available.

PMID:
8477267
36.

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.

Moskowitz SM, Tieu PT, Neufeld EF.

Hum Mutat. 1993;2(2):141-4. No abstract available.

PMID:
8318992
37.

Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.

Menon KP, Tieu PT, Neufeld EF.

Genomics. 1992 Nov;14(3):763-8.

PMID:
1339393
38.

Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog.

Stoltzfus LJ, Sosa-Pineda B, Moskowitz SM, Menon KP, Dlott B, Hooper L, Teplow DB, Shull RM, Neufeld EF.

J Biol Chem. 1992 Apr 5;267(10):6570-5.

39.

Attempted enzyme replacement using human amnion membrane implantations in mucopolysaccharidoses.

Muenzer J, Neufeld EF, Constantopoulos G, Caruso RC, Kaiser-Kupfer MI, Pikus A, Danoff J, Berry RR, McDonald HD, Thompson JN, et al.

J Inherit Metab Dis. 1992;15(1):25-37.

PMID:
1533888
40.
41.

Lysosomal storage diseases.

Neufeld EF.

Annu Rev Biochem. 1991;60:257-80. Review. No abstract available.

PMID:
1883197
42.

Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.

Dlott B, d'Azzo A, Quon DV, Neufeld EF.

J Biol Chem. 1990 Oct 15;265(29):17921-7.

43.
44.
45.

Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.

Paw BH, Moskowitz SM, Uhrhammer N, Wright N, Kaback MM, Neufeld EF.

J Biol Chem. 1990 Jun 5;265(16):9452-7.

47.

Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.

Neufeld EF.

J Biol Chem. 1989 Jul 5;264(19):10927-30. Review. No abstract available.

48.

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

Paw BH, Kaback MM, Neufeld EF.

Proc Natl Acad Sci U S A. 1989 Apr;86(7):2413-7. Erratum in: Proc Natl Acad Sci U S A 1989 Jul;86(14):5625.

49.

Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.

Quon DV, Proia RL, Fowler AV, Bleibaum J, Neufeld EF.

J Biol Chem. 1989 Feb 25;264(6):3380-4.

50.

Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.

Little LE, Lau MM, Quon DV, Fowler AV, Neufeld EF.

J Biol Chem. 1988 Mar 25;263(9):4288-92.

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