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#ciliopathy

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Bernhard Schermer

📣 Exciting update from the Nephrolab :koeln: Cologne:

This preprint marks our debut in the BBS research area, presenting work of Emilia Kieckhöfer on cystic kidney disease in Bbs8 and potential mechanisms.
A heartfelt thank you to Helen May-Simera and her team, along with all other contributors, for their invaluable support!

biorxiv.org/content/10.1101/20

#BBS #Ciliopathy #RareDisease #Nephrology #Kidney #Nephrolab #Cilia #BardetBiedl #Science #CellBiology #BBS8
@cilia

bioRxiv · Loss of Bbs8 leads to cystic kidney disease in mice and affects tubulin acetylation through HDAC2Bardet-Biedl Syndrome (BBS) is a genetic disorder marked by considerable genetic and phenotypic diversity. BBS often presents as a combination of retinitis pigmentosa, obesity, polydactyly, and cystic kidney disease and is considered a model ciliopathy. The syndrome is caused by pathogenic variants in BBS genes, some of which encode components of a ciliary multi-protein complex, known as the BBSome, as well as a chaperonin-like complex, which is required for BBSome assembly. In this study, we describe the occurrence of kidney cysts in a BBS mouse model. Specifically, loss of BBS8 led to the development of cystic kidney disease by the end of the first year of life. In addition to transcriptional changes of key genes involved in regulated cell death and inflammation, proteomic approaches revealed increased expression and altered phosphorylation of histone deacetylase HDAC2 in knockout kidneys. Consistently, loss of Bbs8 resulted in a reduction of acetylated alpha-tubulin in primary cilia. This leads to diminished stability and altered dynamics of primary cilia, potentially contributing to the formation of cystic kidneys and other BBS manifestations previously described in Bbs8 deficient mice. ### Competing Interest Statement The authors have declared no competing interest.
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Bernhard Schermer

Thrilling times! :happy:

Following the exhilarating pre-kickoff rendezvous with #Theracil in Paris, today marked the electrifying pre-kickoff of Workpackage 2 in Cologne :koeln:

Our marathon discussions have truly borne fruit, propelling us forward with absolute clarity!

A huge thanks to everyone who journeyed to Cologne or powered up zoom to join us!

Ready, set, let the journey commence!!! 🚀🎉

#TheraCil #Ciliopathy #RareDisease #Collaboration #Science #Cilia #Sciencemastodon
@cilia

Group photos of today's meeting participants, top picture taken after the coffee break in front of a huge monitor, bottom picture during the evening wrap-up in a local restaurant.
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Bernhard Schermer

Register now for the amazing hybrid centrosome conference in Istanbul, hosted by Elif Nur Firat-Karalar!

Sharing this announcement on the fediverse. Unsure if Elif has joined Mastodon yet…

Some of us might see this as the basal body meeting 😉

@cilia
#Centrosome2023
#cilia #centrosome #centriole #Embo #EmboWorkshop #Science #zilien #RareDisease #ScienceMastodon #Zentrosom #developmentalbiology #biology @nephrology #CellBiology #Ciliopathy

Detail from the poster of the 2023 Centrosome Embo Meeting taking place in September in Istanbul.
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