Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

3 Sept 2019

Abstract excerpt

Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, kidney failure, and cognitive impairment. In spite of progress made in our general understanding of BBS aetiology, the molecular and cellular mechanisms underlying cognitive impairment in BBS remain elusive. Here, we report that the loss of BBS proteins causes synaptic dysfunction in principal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomedical Research and Pathophysiology
Share to Genetic and Kidney Cyst Diseases
Share to Hedgehog Signaling Pathway Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31479441
DOI: 10.1371/journal.pbio.3000414

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neuronsPMID 31479441Read ↗

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neuronsSemantic proximity Read ↗

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid compositionSemantic proximity Read ↗

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.Semantic proximity Read ↗

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndromeSemantic proximity Read ↗

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid compositionSemantic proximity Read ↗

SynaptopathyDB: a resource for studying the genetic and synaptic basis of nervous system disordersSemantic proximity Read ↗

The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retinaSemantic proximity Read ↗

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.Semantic proximity Read ↗

Synapse proteomics of multiprotein complexes: en route from genes to nervous system diseases.Semantic proximity Read ↗

Bardet-Biedl Syndrome 1 Mutations Differentially Impact BBSome Integrity and its Function in Ciliary TraffickingSemantic 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 ↗

Synaptopathies: diseases of the synaptome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.