Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis

Molecular and Cellular Probes

Volumn 26, Issue 4, 2012, Pages 147-150

  Lepori, Maria Barbara ^a   Zappu, Antonietta ^a   Incollu, Simona ^a   Dessì, Valentina ^a   Mameli, Eva ^a   Demelia, Luigi ^b   Nurchi, Anna Maria ^c   Gheorghe, Liana ^d   Maggiore, Giuseppe ^e   Sciveres, Marco ^f   Leuzzi, Vincenzo ^g   Indolfi, Giuseppe ^h   Bonafé, Luisa ⁱ   Casali, Carlo ^g   Angeli, Paolo ^j   Barone, Patrizia ^k   Cao, Antonio ^l   Loudianos, Georgios ^m  

^a Dipartimento di Scienze Biomediche e Biotecnologie USC   (Italy)

^b DEPARTMENT OF RADIOLOGY   (Italy)

^c Dipartimento di Scienze Pediatriche e Medicina Clinica GMacciotta   (Italy)

^d CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^e UNIVERSITY HOSPITAL OF PISA   (Italy)

^f MEDITERRANEAN INSTITUTE FOR TRANSPLANTATION AND ADVANCED SPECIALIZED THERAPIES ISMETT   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h UNIVERSITY OF FLORENCE   (Italy)

ⁱ LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^j UNIVERSITY OF PADOVA   (Italy)

^k UNIVERSITY OF CATANIA   (Italy)

^l CNR   (Italy)

^m Osp Regionale per le Microcitemie   (Italy)

more..

Author keywords

ATP7B; Diagnosis; Missense; Mutation; Prevention; Wilson's disease

Indexed keywords

DNA; WILSON DISEASE PROTEIN;

ARTICLE; CHROMOSOME; CONTROLLED STUDY; DNA SEQUENCE; EARLY DIAGNOSIS; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; ITALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NONSENSE MUTATION; PREVALENCE; PRIORITY JOURNAL; RNA SPLICING; ROMANIA; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; ITALY; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84861803715     PISSN: 08908508     EISSN: 10961194     Source Type: Journal    
DOI: 10.1016/j.mcp.2012.03.007     Document Type: Article

References (14)

1. Ala A.P., Walker A.P., Ashkan K., Dooley J.S., Schilsky M.L. Wilson's disease. Lancet 2007, 369:397-408.
2. Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R., Cox D.W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 5:327-335.
3. Tanzi R.E., Petrukhin K., Chernov I., Pellequr J.L., Wasco W., Ross B., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993, 5:344-350.
4. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215.
5. Lepori M.B., Lovicu M., Dessì V., Zappu A., Incollu S., Zancan L., et al. Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Genet Test 2007, 11:328-332.
6. Cooper D.N., Krawczak M. Human gene mutation 1993, BIOS Scientific Publishers Limited, Oxford, pp. 131-132.
7. Hamza I., Schaefer M., Klomp L.W.J., Gitlin J.D. Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. Proc Natl Acad Sci U S A 1999, 96:13363-13368.
8. Huster D., Kühne A., Bhattacharjee A., Raines L., Jantsch V., Noe J., et al. Diverse functional properties of Wilson disease ATP7Bvariants. Gastroenterology 2012, 10.1053/j.gastro.2011.12.048.
9. Walker J.M., Huster D., Ralle M., Morgan C.T., Blackburn N.J., Lutsenko S. The N-terminal metal-binding site 2 of the Wilson's disease protein plays a key role in the transfer of copper from Atox1. J Biol Chem 2004, 279:15376-15384.
10. Banci L., Bertini I., Cantini F., Migliardi M., Rosato A. An NMR study of the interaction of the N terminal cytoplasmic tail of the Wilson disease protein with copper (I)-HAH1. J Biol Chem 2009, 284:9354-9360.
11. Tsikovskii R., MacArthur B.C., Lutsenko S. The Ly1010-Lys1325 fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper dependent manner. J Biol Chem 2001, 276:2234-2242.
12. Toyoshima C., Norimatsu Y., Iwasawa S., Tsuda T., Ogawa H. How processing of aspartylphosphate is coupled to lumenal gating of the ion pathway in the calcium pump. Proc Natl Acad Sci U S A 2007, 104:19831-19836.
13. Sorensen T.L., Clausen J.D., Jensen A.M., Vilsen B., Møller J.V., Andersen J.P., et al. Localization of a K-binding site involved in dephosphorylation of the sarcoplasmic reticulum Ca2-ATPase. J Biol Chem 2004, 279:46355-46358.
14. Orrù S., Thomas G., Loizedda A., Cox D.W., Contu L. 24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease. Hum Mut 1997, 10(1):84-85.