Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kupfer-transportierende ATPase 2

Das ATP7B-gen kodiert eine Kationen bindende ATPase, die für den Kupfertransport aus den Zellen Verantwortlich ist. Mutationen führen zur autosomal rezessiven Erkrankung Morbus Wilson.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Morbus Wilson
ATP7B

Referenzen:

1.

None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.

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2.

None (1979) Abstracts of meeting presentations.

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3.

Tedesco TA et. al. (1975) The genetic defect in galactosemia.

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4.

Kaufman F et. al. (1979) Ovarian failure in galactosaemia.

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5.

Weinberg AG et. al. (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.

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6.

Litchfield WJ et. al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.

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7.

Fisch RO et. al. (1978) Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia.

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8.

Mohandas T et. al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.

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9.

Westerveld A et. al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.

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10.

Lindblad B et. al. (1977) On the enzymic defects in hereditary tyrosinemia.

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11.

Mohandas T et. al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

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12.

Mohandas T et. al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

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13.

Levy HL et. al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.

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14.

Ibarra B et. al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

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15.

Tedesco TA et. al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.

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16.

Benson PF et. al. (1979) Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

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17.

Wharton CH et. al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

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18.

Bruns GA et. al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.

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19.

Meera Khan P et. al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.

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20.

Sun NC et. al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.

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21.

Scherz R et. al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.

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22.

Hammersen G et. al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.

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23.

Holme E et. al. (1992) Neonatal screen for hereditary tyrosinaemia type I.

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24.

Lindstedt S et. al. (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

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25.

Phaneuf D et. al. (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

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26.

Sokal EM et. al. (1992) Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization.

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27.

Gitzelmann R et. al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.

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28.

Kvittingen EA et. al. (1992) Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.

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29.

Reichardt JK et. al. (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

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30.

Waggoner DD et. al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases.

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31.

Reichardt JK et. al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

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32.

Phaneuf D et. al. (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

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33.

Reichardt JK et. al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

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34.

Mitchell G et. al. (1990) Neurologic crises in hereditary tyrosinemia.

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35.

Flach JE et. al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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36.

De Braekeleer M et. al. (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.

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37.

Tanguay RM et. al. (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

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38.

Russo P et. al. (1990) Visceral pathology of hereditary tyrosinemia type I.

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39.

Laberge C et. al. (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.

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40.

Paradis K et. al. (1990) Liver transplantation for hereditary tyrosinemia: the Quebec experience.

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41.

Brivet M et. al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.

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42.

Dehner LP et. al. (1989) Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver.

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43.

van Spronsen FJ et. al. (1989) Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.

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44.

Tuchman M et. al. (1985) Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.

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45.

Brivet M et. al. (1989) Effect of lactation in a mother with galactosemia.

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46.

Reichardt JK et. al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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47.

Holme E et. al. (1985) Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.

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48.

Pettit BR et. al. (1985) Early prenatal diagnosis of hereditary tyrosinaemia.

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49.

Kvittingen EA et. al. (1986) Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction.

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50.

Kvittingen EA et. al. (1986) Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.

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51.

Kvittingen EA et. al. (1985) Deficiency of fumarylacetoacetase without hereditary tyrosinemia.

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52.

Harley JD et. al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

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53.

Tedesco TA et. al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

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54.

Whelan DT et. al. (1974) Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia.

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55.

Gaull GE et. al. (1968) Significance of hypermethionaemia in acute tyrosinosis.

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56.

None (1967) The enzymatic deficiency in tyrosinemia.

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57.

Gaull GE et. al. (1970) Biochemical observations on so-called hereditary tyrosinemia.

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58.

Sun NC et. al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

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59.

Hill HZ et. al. (1973) Detection of inborn errors of metabolism: galactosemia.

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60.

Bergren WG et. al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

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61.

Shih VE et. al. (1971) Galactosemia screening of newborns in Massachusetts.

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62.

Tedesco TA et. al. (1971) Galactosemia: evidence for a structural gene mutation.

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63.

Kelly S et. al. (1972) A Duarte variant with clinical signs.

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64.

Haschemian G et. al. (1972) [A family with galactosemia and "Duarte variant"].

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65.

Nadler HL et. al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

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66.

None (1967) Clinical variants of galactosemia.

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67.

Kang ES et. al. (1970) Hereditary tyrosinemia and abnormal pyrrole metabolism.

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68.

Gitzelmann R et. al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

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69.

Sparkes RS et. al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.

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70.

None (1969) Hereditary tyrosinemia in a French Canadian isolate.

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71.

Cuatrecasas P et. al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.

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72.

Halvorsen S et. al. (1966) Tyrosinosis. A study of 6 cases.

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73.

Scriver CR et. al. (1967) Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.

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74.

Vaccaro AM et. al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

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75.

Shih LY et. al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

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76.

Hostetter MK et. al. (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.

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77.

Eriksen B et. al. (1980) Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.

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78.

Lang A et. al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.

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79.

Sparkes RS et. al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

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80.

Mulcahy MT et. al. (1980) Where is the gene for GALT?

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81.

Sparkes RS et. al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

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82.

Eydoux P et. al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

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83.

Dagna Bricarelli F et. al. (1981) Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

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84.

Kelley RI et. al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

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85.

Xu YK et. al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

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86.

Andersen MW et. al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.

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87.

Andersen MW et. al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.

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88.

Gartner JC et. al. (1984) Orthotopic liver transplantation in children: two-year experience with 47 patients.

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89.

Robinson AC et. al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.

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90.

Kvittingen EA et. al. (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.

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91.

Garcia-Cruz D et. al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

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92.

Urbanowski JC et. al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.

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93.

Gagné R et. al. (1982) Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.

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94.

Kvittingen EA et. al. (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.

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95.

Malpuech G et. al. (1981) [Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].

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96.

Reed V et. al. (1995) Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.

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97.

Grompe M et. al. (1995) Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I.

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98.

Ashino J et. al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.

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99.

Hahn SH et. al. (1995) Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

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100.

Laine J et. al. (1995) The nephropathy of type I tyrosinemia after liver transplantation.

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101.

Thomas GR et. al. (1995) The Wilson disease gene: spectrum of mutations and their consequences.

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102.

Houwen RH et. al. (1995) H714Q mutation in Wilson disease is associated with late, neurological presentation.

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103.

Thomas GR et. al. (1995) Wilson disease in Iceland: a clinical and genetic study.

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104.

St-Louis M et. al. (1995) Two novel mutations involved in hereditary tyrosinemia type I.

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105.

Thomas GR et. al. (1995) Haplotypes and mutations in Wilson disease.

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106.

Dijkstra M et. al. (1995) Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes.

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107.

Petrukhin K et. al. (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.

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108.

Lin HC et. al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

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109.

Elsas LJ et. al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

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110.

Demers SI et. al. (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

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111.

Kvittingen EA et. al. (1994) Self-induced correction of the genetic defect in tyrosinemia type I.

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112.

Rootwelt H et. al. (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

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113.

Grompe M et. al. (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

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114.

Sasaki N et. al. (1994) The gene responsible for LEC hepatitis, located on rat chromosome 16, is the homolog to the human Wilson disease gene.

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115.

St-Louis M et. al. (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

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116.

Elsas LJ et. al. (1994) A common mutation associated with the Duarte galactosemia allele.

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117.

Grompe M et. al. (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.

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118.

Bull PC et. al. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

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119.

Tanzi RE et. al. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

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120.

Grompe M et. al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

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121.

Labelle Y et. al. (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

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122.

Schweitzer S et. al. (1993) Long-term outcome in 134 patients with galactosaemia.

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123.

Kvittingen EA et. al. (1993) Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

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124.

Reichardt JK et. al. (1993) Molecular characterization of the H319Q galactosemia mutation.

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125.

Figus A et. al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

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126.

Lai K et. al. (1996) A prevalent mutation for galactosemia among black Americans.

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127.

None (1996) Round two for liver gene therapy.

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128.

Overturf K et. al. (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.

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129.

Elsevier JP et. al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

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130.

Timmers C et. al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

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131.

St-Louis M et. al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.

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132.

Rootwelt H et. al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I.

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133.

Ninfali P et. al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

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134.

Podskarbi T et. al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

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135.

Elsevier JP et. al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

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136.

Levy HL et. al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.

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137.

Langley SD et. al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

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138.

Overturf K et. al. (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I.

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139.

St-Louis M et. al. (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

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140.

Greber-Platzer S et. al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

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141.

Endo F et. al. (1997) Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.

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142.

Yang XL et. al. (1997) Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.

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143.

Shah AB et. al. (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

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144.

Terada K et. al. (1998) Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA.

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145.

Kim EK et. al. (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.

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146.

Magrangeas F et. al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.

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147.

Loudianos G et. al. (1998) Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

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148.

Kubo S et. al. (1998) Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.

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149.

Poudrier J et. al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

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150.

Payne AS et. al. (1998) Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

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151.

Holme E et. al. (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

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152.

Prieto-Alamo MJ et. al. (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

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153.

Duc HH et. al. () His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

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154.

Tyfield L et. al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

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155.

Kozák L et. al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

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156.

Murphy M et. al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

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157.

de Jongh S et. al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.

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158.

Loudianos G et. al. (1999) Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

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159.

Ruiz M et. al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.

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160.

Kusuda Y et. al. (2000) Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.

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161.

Okada T et. al. (2000) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

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162.

None (2000) Cellular copper transport and metabolism.

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163.

Forbes JR et. al. (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

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164.

Wilson DC et. al. (2000) Severe hepatic Wilson's disease in preschool-aged children.

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165.

García-Villarreal L et. al. (2000) High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.

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166.

La Fontaine S et. al. (2001) Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.

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167.

Kim SZ et. al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

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168.

Aponte JL et. al. (2001) Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

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169.

Loudianos G et. al. (2000) Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

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170.

Elsas LJ et. al. () The molecular biology of galactosemia.

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171.

Elsas LJ et. al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

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172.

Wu ZY et. al. (2001) Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

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173.

Trbusek M et. al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

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174.

Suzuki M et. al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

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175.

Jorquera R et. al. (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.

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176.

Firneisz G et. al. (2002) Common mutations of ATP7B in Wilson disease patients from Hungary.

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177.

Arranz JA et. al. (2002) Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

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178.

Loudianos G et. al. (2002) Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

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179.

Takeshita Y et. al. (2002) Two families with Wilson disease in which siblings showed different phenotypes.

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180.

None () Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.

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181.

Webb AL et. al. (2003) Verbal dyspraxia and galactosemia.

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182.

DAWSON SP et. al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.

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183.

WALKER FA et. al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.

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184.

None (1963) TYROSINOSIS.

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185.

FRITZELL S et. al. (1964) FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM.

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186.

HALVORSEN S et. al. (1964) STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.

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187.

BEUTLER E et. al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

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188.

GENTZ J et. al. (1965) TYROSINEMIA.

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189.

PERRY TL et. al. (1965) HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION.

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190.

Cullen LM et. al. (2003) Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.

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191.

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