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Lysosomale saure Lipase

Das LIPA-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.

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

Verknüpfte Erkrankungen:

Wolman-Erkrankung
LIPA
Mangel an lysosomaler saurer Lipase
LIPA
Chylomikronämie
ABCA1
ABCG5
APOA5
APOC2
APOE
Chylomikronen-Retentions-Krankheit
SAR1B
GPIHBP1
LCAT
LIPA
LIPC
LMF1
LPL
SAR1B

Referenzen:

1.

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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2.

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

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3.

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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4.

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

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5.

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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6.

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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7.

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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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.

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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10.

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

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11.

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

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12.

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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13.

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

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14.

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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15.

NCBI article

NCBI 3988 external link
16.

OMIM.ORG article

Omim 613497 external link
17.

Orphanet article

Orphanet ID 123063 external link
Update: 14. August 2020
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