Literature DB >> 2498625

Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid.

P M Royce1, U Moser, B Steinmann.   

Abstract

The uptake of ascorbic acid by cultured skin fibroblasts from two siblings with Ehlers-Danlos syndrome type VI, in extracts of which there is no deficit in lysyl hydroxylase activity, was found to be normal. Decreased availability of ascorbic acid to lysyl hydroxylase in cellula cannot, therefore, provide an explanation for the disorder in these patients, the cause of which remains obscure.

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Year:  1989        PMID： 2498625     DOI： 10.1016/s0934-8832(89)80033-2

Source DB:  PubMed          Journal:  Matrix        ISSN： 0934-8832


  5 in total

1.  The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Authors:  Andreas R Janecke; Ben Li; Manfred Boehm; Birgit Krabichler; Marianne Rohrbach; Thomas Müller; Irene Fuchs; Gretchen Golas; Yasuhiro Katagiri; Shira G Ziegler; William A Gahl; Yael Wilnai; Nicoletta Zoppi; Herbert M Geller; Cecilia Giunta; Anne Slavotinek; Beat Steinmann
Journal:  Am J Med Genet A       Date:  2015-09-16       Impact factor: 2.802

2.  Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Authors:  Matthias Baumann; Cecilia Giunta; Birgit Krabichler; Franz Rüschendorf; Nicoletta Zoppi; Marina Colombi; Reginald E Bittner; Susana Quijano-Roy; Francesco Muntoni; Sebahattin Cirak; Gudrun Schreiber; Yaqun Zou; Ying Hu; Norma Beatriz Romero; Robert Yves Carlier; Albert Amberger; Andrea Deutschmann; Volker Straub; Marianne Rohrbach; Beat Steinmann; Kevin Rostásy; Daniela Karall; Carsten G Bönnemann; Johannes Zschocke; Christine Fauth
Journal:  Am J Hum Genet       Date:  2012-01-19       Impact factor: 11.025

3.  Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.

Authors:  P M Royce; B Steinmann; A Vogel; U Steinhorst; A Kohlschuetter
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

4.  Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.

Authors:  Noriko Miyake; Tomoki Kosho; Naomichi Matsumoto
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

5.  Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.

Authors:  B Pousi; T Hautala; J Heikkinen; L Pajunen; K I Kivirikko; R Myllylä
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025
  5 in total

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