Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Optineurin

Das OPTN-Gen kodiert Optineurin, welches eine Bedeutung für die Glaukomentwicklung besitzt. Mutationen sind für das autosomal dominante Weitwinkelglaukom 1E verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Weitwinkelglaukom 1E
OPTN

Referenzen:

1.

Li Y et. al. (1998) Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains.

[^]
2.

Sarfarazi M et. al. (1998) Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.

[^]
3.

Faber PW et. al. (1998) Huntingtin interacts with a family of WW domain proteins.

[^]
4.

Moreland RJ et. al. (2000) Identification of a transcription factor IIIA-interacting protein.

[^]
5.

Schwamborn K et. al. (2000) Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway.

[^]
6.

Hattula K et. al. () FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis.

[^]
7.

Rezaie T et. al. (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

[^]
8.

Vittitow J et. al. (2002) Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure.

[^]
9.

Tang S et. al. (2003) The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.

[^]
10.

Funayama T et. al. (2004) Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.

[^]
11.

Chalasani ML et. al. (2007) A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.

[^]
12.

Park BC et. al. (2007) Interaction between two glaucoma genes, optineurin and myocilin.

[^]
13.

Morton S et. al. (2008) Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.

[^]
14.

Li X et. al. (2008) A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease.

[^]
15.

Chi ZL et. al. (2010) Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.

[^]
16.

Maruyama H et. al. (2010) Mutations of optineurin in amyotrophic lateral sclerosis.

[^]
17.

Wild P et. al. (2011) Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth.

[^]
18.

Deng HX et. al. (2011) Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.

[^]
19.

Vaibhava V et. al. (2012) Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.

[^]
20.

Pottier C et. al. (2015) Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

[^]
21.

Lazarou M et. al. (2015) The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy.

[^]

 

 
Ihre Nachricht: