Article

Loss of Bbs8 leads to cystic kidney disease in mice with reduced acetylation of ciliary alpha-tubulin through HDAC2

2024-03-12

Abstract excerpt

Primary cilia dysfunction underlies a group of severe disorders known as ciliopathies. These include Bardet-Biedl syndrome (BBS), which is caused by mutations in BBS genes encoding for components of ciliary protein complexes essential for the assembly and maintenance of primary cilia. As in most ciliopathies, a hallmark feature of BBS is the development of cystic kidney disease. However, the molecular mechanisms l...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0e6f8151-718a-53b6-a12f-92f927623b78
DOI: 10.1101/2024.03.07.583949

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Loss of Bbs8 leads to cystic kidney disease in mice with reduced acetylation of ciliary alpha-tubulin through HDAC2DOI 10.1101/2024.03.07.583949Read

Spinocerebellar ataxia type 11-associated alleles of <i>Ttbk2</i> dominantly interfere with ciliogenesis and cilium stabilitySemantic proximity Read

Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.Semantic proximity Read

Deacetylation of α-tubulin and cortactin is required for HDAC6 to trigger ciliary disassembly.Semantic proximity Read

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in miceSemantic proximity Read

Targeting an anchored phosphatase-deacetylase unit restores renal ciliary homeostasisSemantic proximity Read

The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.Semantic proximity Read

A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.Semantic proximity Read

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.Semantic proximity Read

De-suppression of mesenchymal cell identities and variable phenotypic outcomes associated with knockout of <i>Bbs1</i>Semantic proximity Read

TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neuronsSemantic proximity Read

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.Semantic proximity Read

Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.Semantic proximity Read