Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Betalipoprotein-Mangel

Ein Betalipoprotein-Mangel umfasst Erkrankungen wie Hypo- und Abetaliporpoteinämie, mit niedrigen oder fehlenden LDL-Spiegeln im Plasma.

Gliederung

Dyslipidämie
Apolipoprotein-Mangel
Betalipoprotein-Mangel
Abetalipoproteinämie
MTTP
Hypobetalipoproteinemie
ANGPTL3
APOB
Epigenetische Dyslipidämie
Hyperalphalipoproteinämie 1
Hyperalphalipoproteinämie 2
Hyperlipämie
Hypoalphalipoproteinämie
Hypobetalipoproteinemie

Referenzen:

1.

Illingworth DR et al. (1980) Abetalipoproteinemia. Report of two cases and review of therapy.

external link
2.

Huang LS et al. (1985) Human apolipoprotein B cDNA clone isolation and demonstration that liver apolipoprotein B mRNA is 22 kilobases in length.

external link
3.

Glickman RM et al. (1979) Immunofluorescence studies of apolipoprotein B in intestinal mucosa. Absence in abetalipoproteinemia.

external link
4.

Lackner KJ et al. (1986) Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia.

external link
5.

Herbert PN et al. (1985) Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis.

external link
6.

Dische MR et al. (1970) The cardiac lesions in Bassen-Kornzweig syndrome. Report of a case, with autopsy findings.

external link
7.

Dodge JT et al. (1967) Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis).

external link
8.

Brunzell JD et al. (1983) Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.

external link
9.

Sniderman A et al. (1980) Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins].

external link
10.

Muller DP et al. (1982) Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.

external link
11.

Harding AE et al. (1982) Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome.

external link
12.

Benayoun L et al. (2007) Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

external link
13.

Muller DP et al. (1977) Long-term management of abetalipoproteinaemia. Possible role for vitamin E.

external link
14.

Raabe M et al. (1998) Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.

external link
15.

Braegger CP et al. (1998) Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation.

external link
16.

Yuan B et al. (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.

external link
17.

Sherva R et al. (2007) Evidence for a quantitative trait locus affecting low levels of apolipoprotein B and low density lipoprotein on chromosome 10 in Caucasian families.

external link
18.

Fazio S et al. (1991) A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene.

external link
19.

Pisciotta L et al. (2012) Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

external link
20.

Martín-Campos JM et al. (2012) Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.

external link
21.

Noto D et al. (2012) Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.

external link
22.

Minicocci I et al. (2012) Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.

external link
23.

Wei CF et al. (1985) Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100.

external link
24.

Wetterau JR et al. (1992) Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.

external link
25.

Talmud PJ et al. (1988) Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.

external link
26.

Partin JS et al. (1974) Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis.

external link
27.

Shoulders CC et al. (1993) Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.

external link
28.

Sharp D et al. (1993) Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.

external link
29.

Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

external link
30.

Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.

external link
31.

Romeo S et al. (2009) Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

external link
32.

Scanu AM et al. (1974) A study of the abnormal lipoproteins in abetalipoproteinemia.

external link
33.

None () [New case of acanthocytosis: congenital erythrocytic abnormalities with retinitis, neurological disorders & degenerative stigmata].

external link
34.

MIER M et al. (1960) Acanthrocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome and associated metabolic disorder.

external link
35.

ISSELBACHER KJ et al. (1964) CONGENITAL BETA-LIPOPROTEIN DEFICIENCY: AN HEREDITARY DISORDER INVOLVING A DEFECT IN THE ABSORPTION AND TRANSPORT OF LIPIDS.

external link
36.

SOBREVILLA LA et al. (1964) DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME).

external link
37.

SINGER K et al. (1952) Acanthrocytosis; a genetic erythrocytic malformation.

external link
38.

BASSEN FA et al. (1950) Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.

external link
39.

Steinberg D et al. (1979) Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia.

external link
40.

Huang LS et al. (1990) Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.

external link
41.

Lee J et al. (2014) Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

external link
42.

Dullaart RP et al. (1986) Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia.

external link
43.

Ross RS et al. (1988) Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.

external link
44.

Blackhart BD et al. (1986) Structure of the human apolipoprotein B gene.

external link
45.

OMIM.ORG article

Omim 605019 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum