Literature DB >> 21735378

Diagnosis of copper transport disorders.

Lisbeth B Møller1, Julia D Hicks, Courtney S Holmes, David S Goldstein, Cornelia Brendl, Peter Huppke, Stephen G Kaler.   

Abstract

Techniques for the diagnosis of copper transport disorders are increasingly important due to recent recognition of previously unappreciated clinical phenotypes and emerging advances in the treatment of these conditions. Here, we collate the diagnostic approaches and techniques currently employed for biochemical and molecular assessment of at-risk individuals in whom abnormal copper metabolism is suspected.
© 2011 by John Wiley & Sons, Inc.

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Year:  2011        PMID： 21735378      PMCID： PMC3156244          DOI： 10.1002/0471142905.hg1709s70

Source DB:  PubMed          Journal:  Curr Protoc Hum Genet        ISSN： 1934-8258


  19 in total

1.  Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens.

Authors:  K Heydorn; E Damsgaard; N Horn
Journal:  Biol Trace Elem Res       Date:  1999       Impact factor: 3.738

Review 2.  ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors:  Stephen G Kaler
Journal:  Nat Rev Neurol       Date:  2011-01       Impact factor: 42.937

3.  Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism.

Authors:  T Tønnesen; N Horn
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  A simplified method for the quantitative assay of small amounts of protein in biologic material.

Authors:  G R Schacterle; R L Pollack
Journal:  Anal Biochem       Date:  1973-02       Impact factor: 3.365

5.  Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.

Authors:  S G Kaler; D S Goldstein; C Holmes; J A Salerno; W A Gahl
Journal:  Ann Neurol       Date:  1993-02       Impact factor: 10.422

6.  Spectrum of EEG findings in Menkes disease.

Authors:  S R White; K Reese; S Sato; S G Kaler
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1993-07

7.  Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.

Authors:  Po-Ching Liu; Patricia E McAndrew; Stephen G Kaler
Journal:  Genet Test       Date:  2002

8.  Improved assay for plasma dihydroxyphenylacetic acid and other catechols using high-performance liquid chromatography with electrochemical detection.

Authors:  C Holmes; G Eisenhofer; D S Goldstein
Journal:  J Chromatogr B Biomed Appl       Date:  1994-03-04

9.  Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.

Authors:  S H Hahn; M L Brantly; C Oliver; M Adamson; S G Kaler; W A Gahl
Journal:  Pediatr Res       Date:  1994-02       Impact factor: 3.756

10.  Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease.

Authors:  S G Kaler; J A Westman; S M Bernes; A M Elsayed; C M Bowe; K L Freeman; C D Wu; M T Wallach
Journal:  J Pediatr       Date:  1993-01       Impact factor: 4.406
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  5 in total

Review 1.  Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy.

Authors:  Stephen G Kaler; Courtney S Holmes
Journal:  Adv Pharmacol       Date:  2013

2.  Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.

Authors:  Saiqa Yasmeen; Katrine Lund; Anne De Paepe; Sylvia De Bie; Arvid Heiberg; João Silva; Márcia Martins; Tina Skjørringe; Lisbeth B Møller
Journal:  Eur J Hum Genet       Date:  2013-09-04       Impact factor: 4.246

3.  Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.

Authors:  Tina Skjørringe; Per Amstrup Pedersen; Sidsel Salling Thorborg; Poul Nissen; Pontus Gourdon; Lisbeth Birk Møller
Journal:  Sci Rep       Date:  2017-04-07       Impact factor: 4.379

4.  Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.

Authors:  Lisbeth Birk Møller; Mie Mogensen; David D Weaver; Per Amstrup Pedersen
Journal:  Front Mol Neurosci       Date:  2021-04-21       Impact factor: 5.639

5.  The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.

Authors:  Hille Fieten; Yadvinder Gill; Alan J Martin; Mafalda Concilli; Karen Dirksen; Frank G van Steenbeek; Bart Spee; Ted S G A M van den Ingh; Ellen C C P Martens; Paola Festa; Giancarlo Chesi; Bart van de Sluis; Roderick H J H Houwen; Adrian L Watson; Yurii S Aulchenko; Victoria L Hodgkinson; Sha Zhu; Michael J Petris; Roman S Polishchuk; Peter A J Leegwater; Jan Rothuizen
Journal:  Dis Model Mech       Date:  2016-01       Impact factor: 5.758
  5 in total

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