Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Nina Horn"'
Autor:
Nina Horn, Pernilla Wittung-Stafshede
Publikováno v:
Biomedicines, Vol 9, Iss 4, p 391 (2021)
Copper is vital for numerous cellular functions affecting all tissues and organ systems in the body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Me
Externí odkaz:
https://doaj.org/article/ea17427939d04e03a6eb405cb45f37a4
Autor:
Lisbeth Birk Møller, Nina Horn
Publikováno v:
Clinical Medicine Insights: Pathology, Vol 1 (2008)
Menkes disease (MD) is a rare recessively inherited lethal disorder of copper metabolism. The gene ATP7A defective in MD consists of 23 exons and the coding region encompasses 4500 bp. About 300 distinct mutations, representing all types, have been i
Externí odkaz:
https://doaj.org/article/37975259e2fa41a38c1e17d403a381a0
Publikováno v:
Journal of Inorganic Biochemistry. 190:98-112
Dysregulation of copper homeostasis in humans is primarily found in two genetic diseases of copper transport, Menkes and Wilson diseases, which show symptoms of copper deficiency or overload, respectively. However, both diseases are copper storage di
Publikováno v:
Journal of inorganic biochemistry. 190
Dysregulation of copper homeostasis in humans is primarily found in two genetic diseases of copper transport, Menkes and Wilson diseases, which show symptoms of copper deficiency or overload, respectively. However, both diseases are copper storage di
Publikováno v:
Metallomics : integrated biometal science. 9(9)
A general principle in all cells in the body is that an essential metal - here copper - is taken up at the plasma membrane, directed through cellular compartments for use in specific enzymes and pathways, stored in specific scavenging molecules if in
The gene defective in Menkes disease, an X-linked recessive disturbance of copper metabolism, has been isolated and predicted to encode a copper-binding P-type ATPase. We determined the complete exon—intron structure of the Menkes disease gene, whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eef49832dd8a582ccf335838cac96f8
https://doi.org/10.1016/0888-7543(95)80160-n
https://doi.org/10.1016/0888-7543(95)80160-n
Autor:
W. Marg, F. Güttler, A. Joannard, P. Guiraud, N. W. Barton, A. Müller, M. J. Richard, T. Grisar, R. Reinsch, T. Tønnesen, A.-M. Gerdes, Nina Horn
Publikováno v:
Europe PubMed Central
Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients
Publikováno v:
Clinical Genetics. 33:228-233
The life-span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects a
Publikováno v:
Scopus-Elsevier
This work investigated a three-generation Menkes disease family, where germ-line mosaicism was suspected in the maternal grandmother of the index patient. She had given birth to 2 boys who died of suspected Menkes disease on the basis of clinical and
Publikováno v:
Human Genetics. 114:606-609