Literature DB >> 9166584

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.

M Mori1, M Nishimura.   

Abstract

We have investigated the cDNA sequence of the copper-transporting P-type ATPase (Atp7a) gene of the macular mouse, a model for human Menkes disease. A point mutation (T to C) that results in substitution of proline for serine in a putative eighth transmembrane domain of the ATP7A was identified. This contrasts with abnormalities identified in the Atp7a of other mottled mouse strains: lack of expression of Atp7a mRNA in the dappled mouse, and a splicing mutation in the blotchy mouse.

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Year:  1997        PMID： 9166584     DOI： 10.1007/s003359900457

Source DB:  PubMed          Journal:  Mamm Genome        ISSN： 0938-8990            Impact factor:   2.957


  33 in total

1.  Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene.

Authors:  C Cecchi; P Avner
Journal:  Genomics       Date:  1996-10-01       Impact factor: 5.736

2.  Clinico-pathological study on macular mutant mouse.

Authors:  T Yamano; M Shimada; H Kawasaki; A Onaga; M Nishimura
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

3.  Conservative amino acid substitution in the myelin proteolipid protein of jimpymsd mice.

Authors:  S Gencic; L D Hudson
Journal:  J Neurosci       Date:  1990-01       Impact factor: 6.167

4.  Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.

Authors:  J Chelly; Z Tümer; T Tønnesen; A Petterson; Y Ishikawa-Brush; N Tommerup; N Horn; A P Monaco
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

5.  Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

Authors:  L D Hudson; C Puckett; J Berndt; J Chan; S Gencic
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

6.  Biochemical characterization and intracellular localization of the Menkes disease protein.

Authors:  Y Yamaguchi; M E Heiny; M Suzuki; J D Gitlin
Journal:  Proc Natl Acad Sci U S A       Date:  1996-11-26       Impact factor: 11.205

7.  A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.

Authors:  U Suter; J J Moskow; A A Welcher; G J Snipes; B Kosaras; R L Sidman; A M Buchberg; E M Shooter
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-15       Impact factor: 11.205

8.  Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

Authors:  L J Valentijn; F Baas; R A Wolterman; J E Hoogendijk; N H van den Bosch; I Zorn; A W Gabreëls-Festen; M de Visser; P A Bolhuis
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

9.  Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants.

Authors:  J Camakaris; D M Danks; L Ackland; E Cartwright; P Borger; R G Cotton
Journal:  Biochem Genet       Date:  1980-02       Impact factor: 1.890

10.  Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

Authors:  S Das; B Levinson; C Vulpe; S Whitney; J Gitschier; S Packman
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
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  7 in total

Review 1.  Menkes disease.

Authors:  Zeynep Tümer; Lisbeth B Møller
Journal:  Eur J Hum Genet       Date:  2009-11-04       Impact factor: 4.246

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.  Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model.

Authors:  Takao Hoshina; Satoshi Nozaki; Takashi Hamazaki; Satoshi Kudo; Yuka Nakatani; Hiroko Kodama; Haruo Shintaku; Yasuyoshi Watanabe
Journal:  J Inherit Metab Dis       Date:  2018-08-21       Impact factor: 4.982

Review 4.  Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Authors:  P de Bie; P Muller; C Wijmenga; L W J Klomp
Journal:  J Med Genet       Date:  2007-08-23       Impact factor: 6.318

5.  Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.

Authors:  Byung-Eun Kim; Michael J Petris
Journal:  J Med Genet       Date:  2007-05-04       Impact factor: 6.318

6.  Increased apoptosis and hypomyelination in cerebral white matter of macular mutant mouse brain.

Authors:  Shoichi Takikita; Tomoyuki Takano; Tsutomu Narita; Yoshihiro Maruo
Journal:  Mol Genet Metab Rep       Date:  2015-06-09

Review 7.  Mottled Mice and Non-Mammalian Models of Menkes Disease.

Authors:  Małgorzata Lenartowicz; Wojciech Krzeptowski; Paweł Lipiński; Paweł Grzmil; Rafał Starzyński; Olga Pierzchała; Lisbeth Birk Møller
Journal:  Front Mol Neurosci       Date:  2015-12-18       Impact factor: 5.639
  7 in total

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