Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Van gen naar ziekte; de ziekte van Menkes : Koperdeficiëntie door een ATP7A-gendefect

Aldenhoven, M. ; Klomp, L. W. ; Van Hasselt, P. M. ; De Koning, T. J. LU and Visser, G. (2007) In Nederlands Tijdschrift voor Geneeskunde 151(41). p.2266-2270
Abstract

Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the circulation and into the central nervous system, as well as reduced transport of copper into the Golgi apparatus for incorporation into various copper-dependent enzymes. This results in a systemic copper deficiency as well as reduced activity of various copper-dependent enzymes. The reduced activity of these copper-dependent enzymes accounts... (More)

Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the circulation and into the central nervous system, as well as reduced transport of copper into the Golgi apparatus for incorporation into various copper-dependent enzymes. This results in a systemic copper deficiency as well as reduced activity of various copper-dependent enzymes. The reduced activity of these copper-dependent enzymes accounts for most of the characteristic features of Menkes disease patients.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; and
alternative title
From gene to disease; Menkes disease : Copper deficiency due to an ATP7A-gene defect
publishing date
type
Contribution to journal
publication status
published
in
Nederlands Tijdschrift voor Geneeskunde
volume
151
issue
41
pages
5 pages
publisher
Bohn Stafleu van Loghum
external identifiers
  • scopus:38449100770
  • pmid:17987894
ISSN
0028-2162
language
Dutch
LU publication?
no
id
2cf40842-7774-41ff-89b2-01d9e47f6173
date added to LUP
2020-02-28 13:56:08
date last changed
2024-05-01 07:14:05
@article{2cf40842-7774-41ff-89b2-01d9e47f6173,
  abstract     = {{<p>Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the circulation and into the central nervous system, as well as reduced transport of copper into the Golgi apparatus for incorporation into various copper-dependent enzymes. This results in a systemic copper deficiency as well as reduced activity of various copper-dependent enzymes. The reduced activity of these copper-dependent enzymes accounts for most of the characteristic features of Menkes disease patients.</p>}},
  author       = {{Aldenhoven, M. and Klomp, L. W. and Van Hasselt, P. M. and De Koning, T. J. and Visser, G.}},
  issn         = {{0028-2162}},
  language     = {{mis}},
  month        = {{10}},
  number       = {{41}},
  pages        = {{2266--2270}},
  publisher    = {{Bohn Stafleu van Loghum}},
  series       = {{Nederlands Tijdschrift voor Geneeskunde}},
  title        = {{Van gen naar ziekte; de ziekte van Menkes : Koperdeficiëntie door een ATP7A-gendefect}},
  volume       = {{151}},
  year         = {{2007}},
}