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[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.

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Authors+Show Affiliations

Garcia Hejl C
Ecole du Val-de-Grâce, 1 Place Alphonse-Laveran, 75005 Paris, France. carinegarcia92@wanadoo.fr
Vrignaud C
No affiliation info available
Garcia C
No affiliation info available
Ceppa F
No affiliation info available

MeSH

Adenosine TriphosphatasesCation Transport ProteinsCopperCopper-Transporting ATPasesHepatolenticular DegenerationHomeostasisHumansMenkes Kinky Hair SyndromeMetal Metabolism, Inborn ErrorsMutation

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 -