Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lysosomale saure Lipase

Das LPA-Gen kodiert eine in Lysosomen wirksame saure Lipase, die für die Aufspaltung der Cholesterolester verantwortlich ist. Mutationen führen zu den autosomal rezessiven Erkrankungen Morbus Wolman und Cholesterolester-Speicherkrankheit.

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:

Wolman-Erkrankung
LIPA
Mangel an lysosomaler saurer Lipase
LIPA

Referenzen:

1.

Anderson RA et. al. (1991) Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases.

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2.

Koch G et. al. (1981) Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19.

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3.

Warner TG et. al. (1980) Separation and characterization of the acid lipase and neutral esterases from human liver.

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4.

Muntoni S et. al. (1995) Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).

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5.

Aslanidis C et. al. (1994) Genomic organization of the human lysosomal acid lipase gene (LIPA).

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6.

Anderson RA et. al. (1994) Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

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7.

Klima H et. al. (1993) A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.

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8.

Anderson RA et. al. (1993) In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.

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9.

Muntoni S et. al. (1996) A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations.

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10.

Maslen CL et. al. (1995) Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.

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11.

Aslanidis C et. al. (1996) Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

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12.

Pagani F et. al. (1996) Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.

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13.

Fujiyama J et. al. (1996) A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.

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14.

Lee TM et. al. (2011) Intragenic deletion as a novel type of mutation in Wolman disease.

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