Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Arylhydrocarbon-interagierendes Protein-like 1

Das AIPL1-Gen kodiert ein Chaperon. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 4.

Diagnostik:

Clinic 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:

Lebersche kongenitale Amaurose 04
AIPL1

Referenzen:

1.

Sohocki MM et. al. (1999) Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders.

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2.

Sohocki MM et. al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

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3.

Sohocki MM et. al. (2000) Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

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4.

van der Spuy J et. al. (2002) The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.

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5.

Akey DT et. al. (2002) The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

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6.

Ramamurthy V et. al. (2003) AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins.

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7.

Liu X et. al. (2004) AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.

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8.

Ramamurthy V et. al. (2004) Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.

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9.

Makino CL et. al. (2006) Effects of low AIPL1 expression on phototransduction in rods.

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10.

Tan MH et. al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

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11.

Kirschman LT et. al. (2010) The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.

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12.

Aboshiha J et. al. (2015) Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.

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