Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis

@article{Gtting2005ElevatedXI,
  title={Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis},
  author={Christian G{\"o}tting and Doris Hendig and A. Adam and Sylvia Sch{\"o}n and Veronika Schulz and Christiane Szliska and Joachim Kuhn and Knut Kleesiek},
  journal={Journal of Molecular Medicine},
  year={2005},
  volume={83},
  pages={984-992}
}
Abstract Pseudoxanthoma elasticum (PXE) is a hereditary disorder of the connective tissue characterized by extracellular matrix alterations with elastin fragmentation and excessive proteoglycan deposition. Xylosyltransferase I (XT-I, E.C. 2.4.2.26) is the initial enzyme in the biosynthesis of the glycosaminoglycan chains in proteoglycans and has been shown to be a marker of tissue remodeling processes. Here, we investigated for the first time serum XT-I activities in a large cohort of German… Expand
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course
TLDR
The XYLT genes encoding xylosyltransferase I (XT-I) as the chain-initiating enzyme in the biosynthesis of proteoglycans and the highly homologous XT-II as potential candidate genes are proposed as genetic co-factors in the severity of PXE. Expand
Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum.
TLDR
A deficiency of multidrug resistance-associated protein 6 leads to alteration of circulating substrates, e.g., inhibitors of calcification as fetuin-A, leading to progressive mineralization of elastic fibers in PXE. Expand
Xylosyltransferase gene variants and their role in essential hypertension.
TLDR
No statistically significant association was found between four XYLT variants and hypertension or blood pressure, suggesting that they do not play a significant role in the development of essential hypertension. Expand
Human xylosyltransferases in health and disease
TLDR
Serum xylosyltransferase activity was found to be a biochemical marker for the assessment of disease activity in systemic sclerosis and for the diagnosis of fibrotic remodeling processes, and sequence variations in the XT-I and XT-II coding genes were identified as risk factors for diabetic nephropathy, osteoarthritis or pseudoxanthoma elasticum. Expand
Untersuchungen zur Pathobiochemie der extrazellulären Matrix bei Pseudoxanthoma elasticum (PXE)
TLDR
New insights are provided into the mechanisms and genes involved in ECM remodelling, which is the hallmark of P XE, and an increased proteolytic potential in the serum of PXE patients is corroborated, corroborating the involvement of matrix metalloproteinases in PxE pathogenesis. Expand
Xylosyltransferase I variants and their impact on abdominal aortic aneurysms.
TLDR
Genotyping of two genetic variations in the XYLT1 gene showed that XT-I polymorphisms potentially confer to the genetic susceptibility of abdominal aortic aneurysm. Expand
Circulating P-, L- and E-selectins in pseudoxanthoma elasticum patients.
TLDR
Elevated P-selectin levels in PXE patients potentially due to oxidative stress and elevated protease activity in PxE are shown. Expand
Elevated serum levels of intercellular adhesion molecule ICAM-1 in Pseudoxanthoma elasticum.
TLDR
Increased ICAM-1 concentrations in PXE patients are shown for the first time, potentially due to the chronic oxidative stress and elevated protease activity followed by extracellular matrix remodeling which have been previously observed in P XE patients. Expand
Identifizierung und funktionelle Analyse der humanen Xylosyltransferase I- und II-Promotoren
TLDR
The findings of this thesis were that cJun/AP-1 and Sp1 proteins essentially participate in the regulation of the XYLT1 gene and significant differences in the transcriptional regulation of both XT isoforms are demonstrated. Expand
SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum.
TLDR
Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility, and are found to be significantly reduced among PxE patients. Expand
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TLDR
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TLDR
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TLDR
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TLDR
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