Literature citations
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
Tanzi R.E.; Petrukhin K.; Chernov I.; Pellequer J.L.; Wasco W.; Ross B.; Romano D.M.; Parano E.; Pavone L.; Brzustowicz L.M.; Devoto M.; Peppercorn J.; Bush A.I.; Sternlieb I.; Pirastu M.; Gusella J.F.; Evgrafov O.; Penchaszadeh G.K.; Honig B.; Edelman I.S.; Soares M.B.; Scheinberg I.H.; Gilliam T.C.;
Nat. Genet. 5:344-350(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 149-1465 (ISOFORM 2); VARIANTS WD GLN-1069 AND SER-1270; VARIANT ARG-875;
A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.
Harada M.; Sakisaka S.; Terada K.; Kimura R.; Kawaguchi T.; Koga H.; Kim M.; Taniguchi E.; Hanada S.; Suganuma T.; Furuta K.; Sugiyama T.; Sata M.;
Gastroenterology 120:967-974(2001)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS WD GLN-1069 AND SER-1270;
The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B.
Tsivkovskii R.; Efremov R.G.; Lutsenko S.;
J. Biol. Chem. 278:13302-13308(2003)
Cited for: MUTAGENESIS OF HIS-1069; CHARACTERIZATION OF VARIANT GLN-1069;
Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.
Dmitriev O.Y.; Bhattacharjee A.; Nokhrin S.; Uhlemann E.M.; Lutsenko S.;
J. Biol. Chem. 286:16355-16362(2011)
Cited for: CHARACTERIZATION OF VARIANTS WD ALA-1064 AND GLN-1069;
Diverse functional properties of Wilson disease ATP7B variants.
Huster D.; Kuehne A.; Bhattacharjee A.; Raines L.; Jantsch V.; Noe J.; Schirrmeister W.; Sommerer I.; Sabri O.; Berr F.; Moessner J.; Stieger B.; Caca K.; Lutsenko S.;
Gastroenterology 142:947-956(2012)
Cited for: CHARACTERIZATION OF VARIANTS WD VAL-85; SER-492; TRP-616; ALA-626; ARG-645; SER-710; LEU-760; ASN-765; VAL-769; LEU-840; THR-857; VAL-874; GLN-969; LEU-992; LEU-1052; LYS-1064; GLN-1069; PHE-1083; VAL-1213; VAL-1222; ARG-1266; SER-1270 AND LEU-1273; CHARACTERIZATION OF VARIANTS ALA-406; LEU-456 AND ARG-832; MUTAGENESIS OF ASP-1027 AND THR-1031; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
Hofer H.; Willheim-Polli C.; Knoflach P.; Gabriel C.; Vogel W.; Trauner M.; Mueller T.; Ferenci P.;
J. Hum. Genet. 57:564-567(2012)
Cited for: VARIANTS WD LEU-539; SER-710; GLY-779; SER-816; GLN-1069 AND MET-1220;
A genetic study of Wilson's disease in the United Kingdom.
Coffey A.J.; Durkie M.; Hague S.; McLay K.; Emmerson J.; Lo C.; Klaffke S.; Joyce C.J.; Dhawan A.; Hadzic N.; Mieli-Vergani G.; Kirk R.; Elizabeth Allen K.; Nicholl D.; Wong S.; Griffiths W.; Smithson S.; Giffin N.; Taha A.; Connolly S.; Gillett G.T.; Tanner S.; Bonham J.; Sharrack B.; Palotie A.; Rattray M.; Dalton A.; Bandmann O.;
Brain 136:1476-1487(2013)
Cited for: VARIANTS WD TRP-136; TRP-148; CYS-382; ALA-536; LYS-541; ILE-597; CYS-614; SER-641; ARG-645; ILE-665; ALA-731; PRO-745; VAL-769; TRP-778; ARG-869; TRP-919; VAL-936; MET-977; MET-991; ALA-995; ILE-1017; VAL-1021; TRP-1041; VAL-1058; GLN-1069; SER-1070; VAL-1074; GLY-1250; ARG-1266; SER-1270; ILE-1298; LEU-1298; TYR-1431 AND PHE-1432;
His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
Ha-Hao D.; Hefter H.; Stremmel W.; Castaneda-Guillot C.; Hernandez Hernandez A.; Cox D.W.; Auburger G.;
Eur. J. Hum. Genet. 6:616-623(1998)
Cited for: VARIANTS WD ALA-710; CYS-741; ILE-1031; GLN-1069 AND ARG-1176; VARIANTS LEU-456; GLY-949 AND ALA-1140;
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
Kalinsky H.; Funes A.; Zeldin A.; Pel-Or Y.; Korostishevsky M.; Gershoni-Baruch R.; Farrer L.A.; Bonne-Tamir B.;
Hum. Mutat. 11:145-151(1998)
Cited for: VARIANTS WD ARG-645; ASN-765; GLN-969; ALA-1064; GLN-1069; VAL-1213 AND 1216-VAL-VAL-1217 DEL; VARIANTS SER-565; GLY-723; ARG-832 AND ALA-1140;
The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.
Ivanova-Smolenskaya I.A.; Ovchinnikov I.V.; Karabanov A.V.; Deineko N.L.; Poleshchuk V.V.; Markova E.D.; Illarioshkin S.N.;
J. Med. Genet. 36:174-174(1999)
Cited for: VARIANT WD GLN-1069;
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
Loudianos G.; Dessi V.; Lovicu M.; Angius A.; Altuntas B.; Giacchino R.; Marazzi M.; Marcellini M.; Sartorelli M.R.; Sturniolo G.C.; Kocak N.; Yuce A.; Akar N.; Pirastu M.; Cao A.;
J. Med. Genet. 36:833-836(1999)
Cited for: VARIANTS WD SER-710; ARG-711; LEU-840; VAL-874; GLN-969; VAL-1003; TRP-1041; PRO-1041; GLU-1061; VAL-1063; GLY-1068; GLN-1069; GLU-1089; PHE-1104; HIS-1151; THR-1169; LYS-1173; VAL-1222; PHE-1262; VAL-1327; PHE-1363 AND MET-1434; VARIANTS ARG-1207 AND ILE-1297;
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
Loudianos G.; Lovicu M.; Solinas P.; Kanavakis E.; Tzetis M.; Manolaki N.; Panagiotakaki E.; Karpathios T.; Cao A.;
Genet. Test. 4:399-402(2000)
Cited for: VARIANTS WD SER-486; GLY-778; MET-890; GLN-969; GLU-1061; GLN-1069; SER-1099 AND THR-1148;
High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.
Caca K.; Ferenci P.; Kuehn H.-J.; Polli C.; Willgerodt H.; Kunath B.; Hermann W.; Moessner J.; Berr F.;
J. Hepatol. 35:575-581(2001)
Cited for: VARIANTS WD TRP-616; ALA-710; SER-710; LEU-760; ASN-765; VAL-769; GLN-969; LEU-992; GLN-1069 AND SER-1270; VARIANTS ALA-406; LEU-456 AND ARG-832;
Molecular diagnosis of Wilson disease.
Butler P.; McIntyre N.; Mistry P.K.;
Mol. Genet. Metab. 72:223-230(2001)
Cited for: VARIANTS WD TRP-778; ARG-898; GLN-1069; THR-1102 AND ARG-1266;
Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
Margarit E.; Bach V.; Gomez D.; Bruguera M.; Jara P.; Queralt R.; Ballesta F.;
Clin. Genet. 68:61-68(2005)
Cited for: VARIANTS WD ARG-645; LEU-690; ARG-869; SER-943; MET-977; GLU-1061; GLN-1069; SER-1099; MET-1216 AND PRO-1232; VARIANTS ALA-406; LEU-456; ARG-832 AND ALA-1140;
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
Todorov T.; Savov A.; Jelev H.; Panteleeva E.; Konstantinova D.; Krustev Z.; Mihaylova V.; Tournev I.; Tankova L.; Tzolova N.; Kremensky I.;
Clin. Genet. 68:474-476(2005)
Cited for: VARIANTS WD GLN-616; ALA-626; TRP-778; GLY-778; VAL-874; GLN-969; THR-1003; GLN-1069; 1217-VAL-LEU-1218 DEL; SER-1270; TYR-1279; ASP-1341; SER-1352 AND PRO-1368;
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
Gromadzka G.; Schmidt H.H.-J.; Genschel J.; Bochow B.; Rodo M.; Tarnacka B.; Litwin T.; Chabik G.; Czlonkowska A.;
Clin. Genet. 68:524-532(2005)
Cited for: VARIANTS WD GLN-616; TYR-639; TYR-653; PRO-776; GLY-778; MET-977; ARG-988; LEU-992; GLN-1069; PRO-1095; MET-1220; LEU-1273 AND ASP-1341;
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
Vrabelova S.; Letocha O.; Borsky M.; Kozak L.;
Mol. Genet. Metab. 86:277-285(2005)
Cited for: VARIANTS WD SER-641; SER-710; ARG-737; GLY-778; GLU-918; GLN-969; MET-977; VAL-1018; SER-1033; TRP-1041; VAL-1063; LYS-1064; GLN-1069; THR-1102; ASP-1111; THR-1148; ARG-1176; SER-1186; ASN-1271; LEU-1273; PRO-1305; ASP-1341 AND CYS-1355; VARIANTS LEU-456; ARG-832 AND ALA-1140;
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
Abdel Ghaffar T.Y.; Elsayed S.M.; Elnaghy S.; Shadeed A.; Elsobky E.S.; Schmidt H.;
BMC Pediatr. 11:56-56(2011)
Cited for: VARIANTS WD PRO-549; HIS-642; TYR-703; PRO-744; ASN-765; GLY-778; MET-977; ASP-998; VAL-1063; GLN-1069; ARG-1207; LEU-1273; ASP-1332; ARG-1341 AND ASP-1341;
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
Simsek Papur O.; Akman S.A.; Cakmur R.; Terzioglu O.;
Eur. J. Med. Genet. 56:175-179(2013)
Cited for: VARIANTS WD SER-710; ASN-765; GLY-778; TRP-778; ILE-788; VAL-874; TRP-919; SER-943; GLN-969; THR-1003; VAL-1003; ILE-1036; TRP-1041; GLN-1069; CYS-1151; THR-1245 AND SER-1270; VARIANTS ALA-406; LEU-456; ARG-832; LYS-952; ALA-1140; ARG-1207 AND LEU-1243;