Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Galactose-1-Phosphate-Uridylyltransferase

Das GALT-gen kodiert eine Enzym des Glaktosemetabolismus. Mutationen führen zur autosomal rezessiven Galaktosämie.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Galactosämie
GALT

Referenzen:

1.

None (1979) Abstracts of meeting presentations.

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2.

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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3.

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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4.

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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5.

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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6.

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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7.

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

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8.

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

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9.

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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10.

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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11.

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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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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

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20.

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

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21.

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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22.

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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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

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

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35.

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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36.

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

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37.

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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38.

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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39.

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

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40.

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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41.

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

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42.

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

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43.

Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

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44.

Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

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45.

Orphanet article

Orphanet ID 122009 [^]
46.

NCBI article

NCBI 2592 [^]
47.

OMIM.ORG article

Omim 606999 [^]
48.

Wikipedia Artikel

Wikipedia DE (Galactose-1-phosphat-Uridyltransferase) [^]
Update: 29. April 2019