ATP-binding cassette sub-family G member 8

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

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

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

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

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

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.

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

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

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

Moses SW et al. (1991) Fructose-1,6-diphosphatase deficiency in Israel.

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

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

Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Beaty TH et al. (1986) Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.

Bhattacharyya AK et al. (1974) Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters.

Kwiterovich PO et al. (1981) Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia.

Solcà C et al. (2005) Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

Buch S et al. (2007) A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

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

Odievre M et al. (1975) [Fructose 1,6-diphosphatase deficiency in 2 sisters].

Bührdel P et al. (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.

Baker L et al. (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

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

Melancon SB et al. (1972) Detection of fructose-6,-diphosphatase deficiency with use of white blood cells.

Baerlocher K et al. (1971) Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency.

Pagliara AS et al. (1972) Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.

Greene HL et al. (1972) "Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid.

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.

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

Besley GT et al. (1994) Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.

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.

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

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

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

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.

Orphanet article

NCBI article

OMIM.ORG article

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