[From gene to disease: copper-transporting P ATPases alteration].Pathol Biol (Paris). 2009 May; 57(3):272-9.PB
Abstract
Copper is a trace metal, essential for many biological processes. Copper is also toxic if in excessive amounts; its homeostatic balance requires a delicate regulation. Several severe hereditary human disorders of copper regulatory mechanisms have been identified; they are related to mutations in gene ATP7A and ATP7B coding for copper-transporting proteins. Those mutations result in copper deficiency for ATP7A (Menkes disease) and copper overload for ATP7B (Wilson disease). Usually, clinical and biochemical phenotypes of these diseases are disparate. This article focuses on the molecular pathogenesis of Wilson and Menkes disease, and discusses how causing mutations are correlated with molecular defects and disease phenotypes.
Links
MeSH
Pub Type(s)
Journal Article
Language
fre
PubMed ID
19046832
Citation
Garcia Hejl, C, et al. "[From Gene to Disease: Copper-transporting P ATPases Alteration]." Pathologie-biologie, vol. 57, no. 3, 2009, pp. 272-9.
Garcia Hejl C, Vrignaud C, Garcia C, et al. [From gene to disease: copper-transporting P ATPases alteration]. Pathol Biol (Paris). 2009;57(3):272-9.
Garcia Hejl, C., Vrignaud, C., Garcia, C., & Ceppa, F. (2009). [From gene to disease: copper-transporting P ATPases alteration]. Pathologie-biologie, 57(3), 272-9. https://doi.org/10.1016/j.patbio.2008.09.004
Garcia Hejl C, et al. [From Gene to Disease: Copper-transporting P ATPases Alteration]. Pathol Biol (Paris). 2009;57(3):272-9. PubMed PMID: 19046832.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - [From gene to disease: copper-transporting P ATPases alteration].
AU - Garcia Hejl,C,
AU - Vrignaud,C,
AU - Garcia,C,
AU - Ceppa,F,
Y1 - 2008/11/28/
PY - 2008/08/23/received
PY - 2008/09/18/accepted
PY - 2008/12/3/pubmed
PY - 2009/10/13/medline
PY - 2008/12/3/entrez
SP - 272
EP - 9
JF - Pathologie-biologie
JO - Pathol Biol (Paris)
VL - 57
IS - 3
N2 - Copper is a trace metal, essential for many biological processes. Copper is also toxic if in excessive amounts; its homeostatic balance requires a delicate regulation. Several severe hereditary human disorders of copper regulatory mechanisms have been identified; they are related to mutations in gene ATP7A and ATP7B coding for copper-transporting proteins. Those mutations result in copper deficiency for ATP7A (Menkes disease) and copper overload for ATP7B (Wilson disease). Usually, clinical and biochemical phenotypes of these diseases are disparate. This article focuses on the molecular pathogenesis of Wilson and Menkes disease, and discusses how causing mutations are correlated with molecular defects and disease phenotypes.
SN - 1768-3114
UR - https://www.unboundmedicine.com/medline/citation/19046832/[From_gene_to_disease:_copper_transporting_P_ATPases_alteration]_
L2 - https://linkinghub.elsevier.com/retrieve/pii/S0369-8114(08)00238-1
DB - PRIME
DP - Unbound Medicine
ER -