Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fructose-1,6-Bisphosphatase 1

Die vom FBP1-Gen kodierte Fruktose-1,6-Bisphosphatase 1 ist ein Enzym des Fruktosestoffwechsels der Leber. Mutationen führen zur autosomal rezessiven Erkrankung des Fruktose-1,6-Bisphosphatase-Mangels, der sich in Hypoglycämie und metabolischer Azidose äußert.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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:

Fruktose-1,6-Bisphosphatase-Mangel
FBP1

Referenzen:

1.

Sia CL et. al. (1969) Studies on the subunit structure of rabbit liver fructose diphosphatase.

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2.

el-Maghrabi MR et. al. (1995) Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.

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3.

Kikawa Y et. al. (1995) Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.

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4.

Rothschild CB et. al. (1995) Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.

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5.

Kikawa Y et. al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

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6.

Tillmann H et. al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.

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7.

Berge KE et. al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

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8.

Lee MH et. al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

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9.

Lu K et. al. (2001) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

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10.

Repa JJ et. al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

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11.

Lu K et. al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

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12.

Matsuura T et. al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

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13.

Yu L et. al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.

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14.

Sehayek E et. al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.

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15.

None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.

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16.

Yang C et. al. (2004) Disruption of cholesterol homeostasis by plant sterols.

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17.

Rees DC et. al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

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18.

Mannucci L et. al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

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19.

Rios J et. al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

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20.

Li B et. al. (2014) Fructose-1,6-bisphosphatase opposes renal carcinoma progression.

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