Pseudoxanthoma Elasticum: Genetic Variations in Antioxidant Genes Are Risk Factors for Early Disease Onset | Zendy

Ralf Zarbock | Zendy; Doris Hendig | Zendy; Christiane Szliska | Zendy; K Kleesiek | Zendy; C Götting | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Pseudoxanthoma Elasticum: Genetic Variations in Antioxidant Genes Are Risk Factors for Early Disease Onset

Author(s) -

Ralf Zarbock,

Doris Hendig,

Christiane Szliska,

K Kleesiek,

C Götting

Publication year - 2007

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2007.088211

Subject(s) - gpx1 , pseudoxanthoma elasticum , allele , biology , genotype , genetics , sod2 , superoxide dismutase , oxidative stress , glutathione peroxidase , gene , endocrinology , medicine , pathology

Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder characterized by progressive calcification and fragmentation of elastic fibers in connective tissues. PXE is caused by mutations in the ABCC6 gene, which encodes the membrane transporter multidrug resistance-associated protein 6. Chronic oxidative stress was recently suggested to play a crucial role in the pathogenesis of the disease. Our aim was to investigate the association of PXE with genetic variation in genes coding for antioxidant enzymes.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research