0000000000263537
AUTHOR
Viola Kretschmer
showing 4 related works from this author
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice
2019
Purpose Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function. Insights gained from BBS mouse models are applicable to other syndromic and nonsyndromic retinal diseases. This progressive characterization of the visual phenotype in three BBS mouse models sets a baseline for testing therapeutic interventions. Methods Longitudinal acquisition of electroretinograms, optical coherence tomography scans, and visual acuity using the optomotor reflex in Bbs6/Mkks, Bbs8/Ttc8, and Bbs5 knockout mice. Gene and protein expression analysis in vivo and in vitro. Results Complete loss of BBS5, BBS6, or BBS8 leads to different rates of reti…
Tissue‐dependent differences in Bardet–Biedl syndrome gene expression
2019
BACKGROUND INFORMATION Primary cilia are highly conserved multifunctional cell organelles that extend from the cell membrane. A range of genetic disorders, collectively termed ciliopathies, is attributed to primary cilia dysfunction. The archetypical ciliopathy is the Bardet-Biedl syndrome (BBS), patients of which display virtually all symptoms associated with dysfunctional cilia. The primary cilium acts as a sensory organelle transmitting intra- and extracellular signals thereby transducing various signalling pathways facilitated by the BBS proteins. Growing evidence suggests that cilia proteins also have alternative functions in ciliary independent mechanisms, which might be contributing …
Zilienabhängige RPE-Zellentwicklung und der WNT-Signalweg
2020
ZusammenfassungDas retinale Pigmentepithel (RPE) ist eine hochpolarisierte Einzelschicht quaderförmiger Epithelzellen, die dicht mit Melanin gepackt sind. Sie liegt zwischen den lichtempfindlichen Außensegmenten der Photorezeptoren und der Aderhaut (Choroidea), spielt eine essenzielle Rolle bei der Entwicklung der Photorezeptoren und übernimmt wichtige Funktionen in Bezug auf Nährstoffversorgung und Erhaltung, im Retinalstoffwechsel und bei der Abschirmung von der Blutversorgung der Aderhaut. Die Photorezeptoren durchlaufen täglich einen Erneuerungsprozess, bei dem 10% der äußeren Segmente durch das retinale Pigmentepithel phagozytiert werden. Dies erfordert eine enge Wechselwirkung zwische…
The entangled relationship between cilia and actin
2020
Primary cilia are microtubule-based sensory cell organelles that are vital for tissue and organ development. They act as an antenna, receiving and transducing signals, enabling communication between cells. Defects in ciliogenesis result in severe genetic disorders collectively termed ciliopathies. In recent years, the importance of the direct and indirect involvement of actin regulators in ciliogenesis came into focus as it was shown that F-actin polymerisation impacts ciliation. The ciliary basal body was further identified as both a microtubule and actin organising centre. In the current review, we summarize recent studies on F-actin in and around primary cilia, focusing on different acti…