Glucose-6-phosphatase
The G6PC gene encodes the Glucose-6-phosphatase, an important enzyme in glycogen metabolism. Mutations cause autosomal recessive von Gierke disease.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Hussain SP et al. (2000) Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases.
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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. |
Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.
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6. |
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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7. |
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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8. |
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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9. |
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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10. |
Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.
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11. |
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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12. |
Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.
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13. |
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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14. |
Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.
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15. |
Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.
|
16. |
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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17. |
Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.
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18. |
Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.
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19. |
Hammersen G et al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.
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20. |
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21. |
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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22. |
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23. |
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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24. |
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25. |
Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.
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26. |
Brivet M et al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.
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27. |
Brivet M et al. (1989) Effect of lactation in a mother with galactosemia.
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28. |
Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.
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29. |
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30. |
Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.
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31. |
Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.
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32. |
Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia.
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33. |
Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.
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34. |
Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts.
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35. |
Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation.
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36. |
Kelly S et al. (1972) A Duarte variant with clinical signs.
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37. |
Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"].
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38. |
Nadler HL et al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.
|
39. |
None (1967) Clinical variants of galactosemia.
|
40. |
Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
|
41. |
Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.
|
42. |
Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.
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43. |
Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.
|
44. |
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.
|
45. |
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.
|
46. |
Lang A et al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.
|
47. |
Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.
|
48. |
Mulcahy MT et al. (1980) Where is the gene for GALT?
|
49. |
Sparkes RS et al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.
|
50. |
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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51. |
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.
|
52. |
Kelley RI et al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.
|
53. |
Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.
|
54. |
Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.
|
55. |
Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.
|
56. |
Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.
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57. |
Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.
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58. |
Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.
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59. |
Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.
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60. |
Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.
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61. |
Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
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62. |
Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele.
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63. |
Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia.
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64. |
Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation.
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65. |
Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans.
|
66. |
Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.
|
67. |
Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
|
68. |
Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
|
69. |
Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.
|
70. |
Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.
|
71. |
Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.
|
72. |
Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
|
73. |
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.
|
74. |
Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
|
75. |
Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.
|
76. |
Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
|
77. |
de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.
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78. |
Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.
|
79. |
Elsas LJ et al. () The molecular biology of galactosemia.
|
80. |
Elsas LJ et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.
|
81. |
Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.
|
82. |
Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.
|
83. |
Webb AL et al. (2003) Verbal dyspraxia and galactosemia.
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84. |
DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.
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85. |
WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.
|
86. |
BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.
|
87. |
Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.
|
88. |
None (2006) Classical galactosaemia revisited.
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89. |
Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
|
90. |
Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
|
91. |
Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
|
92. |
None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.
|
93. |
Weinberg AG et al. (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.
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94. |
Fisch RO et al. (1978) Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia.
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95. |
Lindblad B et al. (1977) On the enzymic defects in hereditary tyrosinemia.
|
96. |
Holme E et al. (1992) Neonatal screen for hereditary tyrosinaemia type I.
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97. |
Lindstedt S et al. (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.
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98. |
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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99. |
Sokal EM et al. (1992) Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization.
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100. |
Kvittingen EA et al. (1992) Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.
|
101. |
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.
|
102. |
Mitchell G et al. (1990) Neurologic crises in hereditary tyrosinemia.
|
103. |
De Braekeleer M et al. (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.
|
104. |
Tanguay RM et al. (1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
|
105. |
Russo P et al. (1990) Visceral pathology of hereditary tyrosinemia type I.
|
106. |
Laberge C et al. (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.
|
107. |
Paradis K et al. (1990) Liver transplantation for hereditary tyrosinemia: the Quebec experience.
|
108. |
Dehner LP et al. (1989) Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver.
|
109. |
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.
|
110. |
Tuchman M et al. (1985) Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.
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111. |
Holme E et al. (1985) Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.
|
112. |
Pettit BR et al. (1985) Early prenatal diagnosis of hereditary tyrosinaemia.
|
113. |
Kvittingen EA et al. (1986) Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction.
|
114. |
Kvittingen EA et al. (1986) Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.
|
115. |
Kvittingen EA et al. (1985) Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
|
116. |
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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117. |
Gaull GE et al. (1968) Significance of hypermethionaemia in acute tyrosinosis.
|
118. |
None (1967) The enzymatic deficiency in tyrosinemia.
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119. |
Gaull GE et al. (1970) Biochemical observations on so-called hereditary tyrosinemia.
|
120. |
Kang ES et al. (1970) Hereditary tyrosinemia and abnormal pyrrole metabolism.
|
121. |
None (1969) Hereditary tyrosinemia in a French Canadian isolate.
|
122. |
Halvorsen S et al. (1966) Tyrosinosis. A study of 6 cases.
|
123. |
Scriver CR et al. (1967) Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.
|
124. |
Hostetter MK et al. (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.
|
125. |
Gartner JC et al. (1984) Orthotopic liver transplantation in children: two-year experience with 47 patients.
|
126. |
Kvittingen EA et al. (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.
|
127. |
Gagné R et al. (1982) Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.
|
128. |
Kvittingen EA et al. (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.
|
129. |
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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130. |
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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131. |
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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132. |
Laine J et al. (1995) The nephropathy of type I tyrosinemia after liver transplantation.
|
133. |
St-Louis M et al. (1995) Two novel mutations involved in hereditary tyrosinemia type I.
|
134. |
Demers SI et al. (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
|
135. |
Kvittingen EA et al. (1994) Self-induced correction of the genetic defect in tyrosinemia type I.
|
136. |
Rootwelt H et al. (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
|
137. |
Grompe M et al. (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
|
138. |
St-Louis M et al. (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
|
139. |
Grompe M et al. (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.
|
140. |
Grompe M et al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
|
141. |
Labelle Y et al. (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
|
142. |
Kvittingen EA et al. (1993) Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
|
143. |
None (1996) Round two for liver gene therapy.
|
144. |
Overturf K et al. (1996) Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.
|
145. |
Timmers C et al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.
|
146. |
St-Louis M et al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.
|
147. |
Rootwelt H et al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I.
|
148. |
Overturf K et al. (1997) Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I.
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149. |
St-Louis M et al. (1997) Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
|
150. |
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.
|
151. |
Kubo S et al. (1998) Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.
|
152. |
Poudrier J et al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
|
153. |
Holme E et al. (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).
|
154. |
Prieto-Alamo MJ et al. (1998) Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.
|
155. |
Kim SZ et al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
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156. |
Aponte JL et al. (2001) Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
|
157. |
Jorquera R et al. (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.
|
158. |
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.
|
159. |
None (1963) TYROSINOSIS.
|
160. |
FRITZELL S et al. (1964) FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM.
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161. |
HALVORSEN S et al. (1964) STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.
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162. |
GENTZ J et al. (1965) TYROSINEMIA.
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163. |
PERRY TL et al. (1965) HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION.
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164. |
Bliksrud YT et al. (2005) Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
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165. |
Wuestefeld T et al. (2013) A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration.
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166. |
Loudianos G et al. (1999) Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
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167. |
Okada T et al. (2000) Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
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168. |
Forbes JR et al. (2000) Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
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169. |
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.
|
170. |
Takeshita Y et al. (2002) Two families with Wilson disease in which siblings showed different phenotypes.
|
171. |
Margarit E et al. (2005) Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
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172. |
Gupta A et al. (2005) Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
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173. |
Gromadzka G et al. (2005) 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.
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174. |
Park S et al. (2007) Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
|
175. |
Park HD et al. (2009) Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.
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176. |
Wang LH et al. (2011) Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
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177. |
Thomas GR et al. (1995) The Wilson disease gene: spectrum of mutations and their consequences.
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178. |
Thomas GR et al. (1995) Wilson disease in Iceland: a clinical and genetic study.
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179. |
Thomas GR et al. (1995) Haplotypes and mutations in Wilson disease.
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180. |
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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181. |
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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182. |
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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183. |
Figus A et al. (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
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184. |
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185. |
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186. |
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187. |
Duc HH et al. () His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
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188. |
Reed V et al. (1995) Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.
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189. |
Houwen RH et al. (1995) H714Q mutation in Wilson disease is associated with late, neurological presentation.
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190. |
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191. |
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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192. |
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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193. |
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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194. |
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195. |
Kusuda Y et al. (2000) Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
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196. |
None (2000) Cellular copper transport and metabolism.
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197. |
Wilson DC et al. (2000) Severe hepatic Wilson's disease in preschool-aged children.
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198. |
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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199. |
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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Orphanet article
Orphanet ID 121980
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NCBI article
NCBI 2538
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OMIM.ORG article
Omim 613742
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Wikipedia article
Wikipedia EN (Glucose_6-phosphatase)
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Update: Aug. 14, 2020