Van Schaftingen E - Search Results

1

Phosphoserine phosphatase deficiency in a patient with Williams syndrome.

Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E. Jaeken J, et al. Among authors: van schaftingen e. J Med Genet. 1997 Jul;34(7):594-6. doi: 10.1136/jmg.34.7.594. J Med Genet. 1997. PMID: 9222972 Free PMC article.

2

Mutations responsible for 3-phosphoserine phosphatase deficiency.

Veiga-da-Cunha M, Collet JF, Prieur B, Jaeken J, Peeraer Y, Rabbijns A, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: van schaftingen e. Eur J Hum Genet. 2004 Feb;12(2):163-6. doi: 10.1038/sj.ejhg.5201083. Eur J Hum Genet. 2004. PMID: 14673469

3

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.

Jaeken J, Detheux M, Van Maldergem L, Frijns JP, Alliet P, Foulon M, Carchon H, Van Schaftingen E. Jaeken J, et al. Among authors: van schaftingen e, van maldergem l. J Inherit Metab Dis. 1996;19(2):223-6. doi: 10.1007/BF01799435. J Inherit Metab Dis. 1996. PMID: 8739971 No abstract available.

4

Purification, crystallization and preliminary X-ray diffraction analysis of human phosphoserine phosphatase.

Peeraer Y, Rabijns A, Verboven C, Collet JF, Van Schaftingen E, De Ranter C. Peeraer Y, et al. Among authors: van schaftingen e. Acta Crystallogr D Biol Crystallogr. 2002 Jan;58(Pt 1):133-4. doi: 10.1107/s0907444901017310. Epub 2001 Dec 21. Acta Crystallogr D Biol Crystallogr. 2002. PMID: 11752790

5

High-resolution structure of human phosphoserine phosphatase in open conformation.

Peeraer Y, Rabijns A, Verboven C, Collet JF, Van Schaftingen E, De Ranter C. Peeraer Y, et al. Among authors: van schaftingen e. Acta Crystallogr D Biol Crystallogr. 2003 Jun;59(Pt 6):971-7. doi: 10.1107/s0907444903005407. Epub 2003 May 23. Acta Crystallogr D Biol Crystallogr. 2003. PMID: 12777757

6

How calcium inhibits the magnesium-dependent enzyme human phosphoserine phosphatase.

Peeraer Y, Rabijns A, Collet JF, Van Schaftingen E, De Ranter C. Peeraer Y, et al. Among authors: van schaftingen e. Eur J Biochem. 2004 Aug;271(16):3421-7. doi: 10.1111/j.0014-2956.2004.04277.x. Eur J Biochem. 2004. PMID: 15291819 Free article.

7

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E. Jaeken J, et al. Among authors: van schaftingen e, van maldergem l. Arch Dis Child. 1996 Jun;74(6):542-5. doi: 10.1136/adc.74.6.542. Arch Dis Child. 1996. PMID: 8758134 Free PMC article.

8

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E. Matthijs G, et al. Among authors: van schaftingen e. Nat Genet. 1997 May;16(1):88-92. doi: 10.1038/ng0597-88. Nat Genet. 1997. PMID: 9140401

9

Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate.

Collet JF, Gerin I, Rider MH, Veiga-da-Cunha M, Van Schaftingen E. Collet JF, et al. Among authors: van schaftingen e. FEBS Lett. 1997 May 26;408(3):281-4. doi: 10.1016/s0014-5793(97)00438-9. FEBS Lett. 1997. PMID: 9188776 Free article.

10

Prenatal diagnosis in CDG1 families: beware of heterogeneity.

Matthijs G, Schollen E, Cassiman JJ, Cormier-Daire V, Jaeken J, van Schaftingen E. Matthijs G, et al. Among authors: van schaftingen e. Eur J Hum Genet. 1998 Mar-Apr;6(2):99-104. doi: 10.1038/sj.ejhg.5200161. Eur J Hum Genet. 1998. PMID: 9781052

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