Výsledky vyhledávání - "L. W. J. Klomp"

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

Autor: Patricia A. J. Muller, L. W. J. Klomp, P de Bie, Cisca Wijmenga

Publikováno v: Journal of Medical Genetics. 44:673-688

The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2e141aa2dc4c460c9e64fcb2804e28
https://doi.org/10.1136/jmg.2007.052746

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The many faces of the copper metabolism protein MURR1/COMMD1

Autor: B van de Sluis, Cisca Wijmenga, P de Bie, L. W. J. Klomp

Publikováno v: Journal of Heredity. 96(7):803-11

Copper is an essential transition metal but is toxic in excess; therefore, its metabolism needs to be tightly regulated. Defects in the regulation of copper can lead to various disorders characterized by copper deficiency or copper excess. Recently,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::512a83cfaa4656eeff8005bb0fcc9ff3
https://doi.org/10.1093/jhered/esi110

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Fine-resolution mapping by haplotype evaluation

Publikováno v: HUMAN GENETICS, 104(3), 241-8. SPRINGER
Scopus-Elsevier

Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), have previously been mapped to 18q21 by a search for shared haplotypes in patients in two isolat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce36510508e6f831989f120cff30da8
https://doi.org/10.1007/pl00008714

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Preparation of Anti-mucin Polypeptide Antisera to Study Mucin Biosynthesis

Autor: Kristien M. A. J. Tytgat, Alexandra W. C. Einerhand, F.-J. Bovelander, L. W. J. Klomp, F. J. M. Opdam, G. J. Strous, Jan Dekker, Hans A. Büller, A. Van Der Wurff

Publikováno v: Analytical biochemistry, 226(2), 331-341. Academic Press Inc.

Mucins are very heavily O-glycosylated glycoproteins. For in depth studies on the cell biological aspects of mucins, anti-polypeptide antibodies are essential. We therefore developed a method for the preparation and screening of polyclonal antisera a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fccd9e74c2cce63841b1c411c6ab63cb
https://doi.org/10.1006/abio.1995.1233

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Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

Autor: Rudolphus Berger, A. J. J. M. Geboers, I. E. T. van den Berg, L. W. J. Klomp, L. Tabatabaie, T. J. de Koning

Publikováno v: Human mutation. 30(5)

Three-phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare recessive inborn error in the biosynthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and intractable seizures. The bioch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8cc3de8bf114c80d34d503076c5a42a
https://pubmed.ncbi.nlm.nih.gov/19235232

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Genetics of familial intrahepatic cholestasis syndromes

Autor: S. W. C. Van Mil, Roderick H.J. Houwen, L. W. J. Klomp

Bile acids and bile salts have essential functions in the liver and in the small intestine. Their synthesis in the liver provides a metabolic pathway for the catabolism of cholesterol and their detergent properties promote the solubilisation of essen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf83fb74577818b4a2c5b04bc91f2197
https://europepmc.org/articles/PMC1736078/

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Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

Autor: Acc van Oppen, L. Dorland, Frits A. Beemer, Ruud Berger, Iet van den Berg, T. J. de Koning, L. W. J. Klomp

Publikováno v: Lancet (London, England). 364(9452)

3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by DNA mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::786fea16b6c966903feee88ba691f87b
https://pubmed.ncbi.nlm.nih.gov/15610786

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