Kastelein JJ - Search Results

1

Mutation of tryptophan residues in lipoprotein lipase. Effects on stability, immunoreactivity, and catalytic properties.

Lookene A, Groot NB, Kastelein JJ, Olivecrona G, Bruin T. Lookene A, et al. Among authors: kastelein jj. J Biol Chem. 1997 Jan 10;272(2):766-72. doi: 10.1074/jbc.272.2.766. J Biol Chem. 1997. PMID: 8995362 Free article.

2

Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis.

Ma YH, Bruin T, Tuzgol S, Wilson BI, Roederer G, Liu MS, Davignon J, Kastelein JJ, Brunzell JD, Hayden MR. Ma YH, et al. Among authors: kastelein jj. J Biol Chem. 1992 Jan 25;267(3):1918-23. J Biol Chem. 1992. PMID: 1730727 Free article.

3

The C-terminus of lipoprotein lipase is essential for biological function but contains no domain for glycosylphosphatidylinositol anchoring.

Bruin T, Groot NB, Jansen J, Kastelein JJ. Bruin T, et al. Among authors: kastelein jj. Eur J Biochem. 1994 May 1;221(3):1019-25. doi: 10.1111/j.1432-1033.1994.tb18819.x. Eur J Biochem. 1994. PMID: 8181457 Free article.

4

[Lipoprotein lipase].

Kastelein JJ, Bruin T, ten Cate JW. Kastelein JJ, et al. Ned Tijdschr Geneeskd. 1992 Apr 11;136(15):727-30. Ned Tijdschr Geneeskd. 1992. PMID: 1560865 Review. Dutch. No abstract available.

5

Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent.

Bijvoet SM, Bruin T, Tuzgöl S, Bakker HD, Hayden MR, Kastelein JJ. Bijvoet SM, et al. Among authors: kastelein jj. Hum Genet. 1994 Mar;93(3):339-43. doi: 10.1007/BF00212035. Hum Genet. 1994. PMID: 8125488

6

A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity.

Bruin T, Kastelein JJ, Van Diermen DE, Ma Y, Henderson HE, Stuyt PM, Stalenhoef AF, Sturk A, Brunzell JD, Hayden MR. Bruin T, et al. Among authors: kastelein jj. Eur J Biochem. 1992 Sep 1;208(2):267-72. doi: 10.1111/j.1432-1033.1992.tb17182.x. Eur J Biochem. 1992. PMID: 1521525 Free article.

7

Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase.

Bruin T, Tuzgöl S, van Diermen DE, Hoogerbrugge-van der Linden N, Brunzell JD, Hayden MR, Kastelein JJ. Bruin T, et al. Among authors: kastelein jj. J Lipid Res. 1993 Dec;34(12):2109-19. J Lipid Res. 1993. PMID: 8301230 Free article.

8

Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency.

Bijvoet SM, Wiebusch H, Ma Y, Reymer PW, Bruin T, Bakker HD, Funke H, Assmann G, Hayden MR, Kastelein JJ. Bijvoet SM, et al. Among authors: kastelein jj. Neth J Med. 1996 Nov;49(5):189-95. doi: 10.1016/0300-2977(96)00043-5. Neth J Med. 1996. PMID: 8973094

9

Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.

Henderson HE, Bijvoet SM, Mannens MA, Bruin T, Erkelens DW, Hayden MR, Kastelein JJ. Henderson HE, et al. Among authors: kastelein jj. Am J Med Genet. 1998 Jul 24;78(4):313-6. doi: 10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9714430

10

Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.

Wiebusch H, Funke H, Bruin T, Bucher H, von Eckardstein A, Kastelein JJ, Assmann G. Wiebusch H, et al. Among authors: kastelein jj. Hum Mutat. 1996;8(4):381-3. doi: 10.1002/(SICI)1098-1004(1996)8:4<381::AID-HUMU16>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8956048 No abstract available.

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