Ask about this productRelated genes to: BBS5 Blocking Peptide
- Gene:
- BBS5 NIH gene
- Name:
- Bardet-Biedl syndrome 5
- Previous symbol:
- -
- Synonyms:
- DKFZp762I194
- Chromosome:
- 2q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1998-03-25
- Date modifiied:
- 2016-10-05
Related products to: BBS5 Blocking Peptide
Related articles to: BBS5 Blocking Peptide
- Inherited retinal diseases (IRDs) may present as an isolated ocular condition or as part of multisystem disorders, such as Bardet-Biedl syndrome (BBS). Several BBS-related manifestations are age-dependent and variably expressed. Therefore, patients with early or subtle extra-ocular features may be incorrectly diagnosed as having non-syndromic IRD. There are two diagnostic frameworks for BBS: a phenotype-based, Beales-derived approach and a genotype-first approach, as recommended by the InterEuropean Reference Networks (ERNs) criteria. Here, we aimed to conduct comprehensive evaluations of patients with IRD carrying BBS-related variants. - Source: PubMed
Publication date: 2026/06/02
Azab BilalAburizeg DuniaAl-Slaimieh AbdalrahmanNaser Aldeen RahafHyasat AhmadAlrefae AyaAlbooz RawandAlAref AdnanAlrefae Ahmad Moh'd KhierObeidat MaryaHadidy AzmiAbu-Ameerh MohammedAl-Bdour MuawyahMaswadi RanadAl-Nawaiseh Ibrahim - The BBSome, an eight-protein complex implicated in Bardet-Biedl syndrome (BBS), plays a crucial role in various cellular processes including ciliary function. Although important aspects of its structural organization and protein interactions have been elucidated, additional questions remain regarding how these features relate to cargo recognition and complex dynamics. Using AlphaFold3, we generated a structural model closely matching recent cryo-EM data (α-carbon root means square deviation: 1.203 Å). Interface residue analysis of the model identified BBSome proteins BBS1 and BBS9 as central interaction hubs (most interface residues between two proteins), with BBS2 and BBS7 showing the most polar contacts. The common BBS1 pathogenic mutation, known to cause BBS, was predicted to destabilize the complex. BBS4 was also found to interact stably with pericentriolar material 1, suggesting a role in centriolar satellite localization. AlphaFold3-mediated analysis of BBSome interactions with G protein-coupled receptors (GPCRs) led to the identification of contact hotspots on BBS1, BBS4, and BBS5. These predictions were supported by immunoprecipitation and peptide competition assays. The modeling also suggested plausible interfaces between specific BBS proteins and metabolic signaling proteins, including melanocortin receptor accessory protein 2 (MRAP2) [an melanocortin-4 receptor (MC4R) chaperonin], the leptin receptor, and the insulin receptor. These predicted interfaces align with previously reported biochemical associations between BBS proteins and these receptors, supporting the idea that the BBSome regulates trafficking and signaling in metabolic pathways. Together, these findings provide new insights into BBSome structure and receptor interactions, offering a predictive framework to explore its role in ciliary trafficking and human disease. This study combines AI modeling and experimental validation to define key structural features and receptor interactions of the BBSome complex. The analysis identifies BBS1 and BBS9 as central hubs, reveals how the BBS1 mutation destabilizes the complex, and uncovers novel contacts with various receptors including those involved in metabolic regulation. These findings provide a predictive framework linking BBSome structure to ciliary signaling and metabolic regulation in Bardet-Biedl syndrome. - Source: PubMed
Publication date: 2026/03/31
Guo Deng FuRouabhi YounesTollefson MalloryVorhies KaiRahmouni Kamal - Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside segregation analyses of their families. A targeted panel of genes was chosen and analyzed for each case, based on a detailed examination of clinical data. Gene analyses revealed that specific variants concern key neurobiological processes involving neuronal architecture, development, and function. These variants occur in a number of genes, including , , , and which are critical for synaptic signaling imbalance, and for ciliopathies, for spectrins structure, , , and for neuronal organelles trafficking and integrity, , , , , and for gene expression, for cell cycle control, , , and for mitochondrial function, and , , and WDR45 for neuron homeostasis. Novel single nucleotide variants in the , , , , , and genes have been identified and proposed for use in ASD diagnostics. Our data contribute to a better understanding of the complex neurobiological features of autism and are applicable in the diagnosis and development of personalized therapeutic approaches. - Source: PubMed
Publication date: 2025/06/17
Belenska-Todorova LyudmilaZamfirov MilenTodorov TihomirAtemin SlavenaSleptsova MilaPavlova ZornitsaKadiyska TanyaMaver AlesPeterlin BorutTodorova Albena - Bardet-Biedl syndrome (BBS) is a complex genetic condition that can affect multiple organ systems, frequently causing pigmentary retinopathy, renal abnormalities, polydactyly, and obesity. Metabolic disturbances including obesity, unsuppressed appetite, and an increased risk of type 2 diabetes (T2D) present clinical management challenges. In this issue of the JCI, Singh et al. present a mouse model of a specific BBS subtype with genetic deletion of the Bbs5 gene. The model recapitulates many of the clinical features observed in patients living with BBS5 and sheds light on adipocyte biology, as well as the hypothalamic mechanisms driving hunger- and food-seeking behaviors that fuel the adverse metabolic phenotype. Importantly, exogenous GLP-1 receptor agonist treatment suppressed both appetite and weight, opening opportunities for direct translation into the clinical setting. - Source: PubMed
Publication date: 2025/06/16
Tomlinson Jeremy W - CEP290 variants, commonly associated with Leber congenital amaurosis, cause severe visual impairment within the first year of life. Herein, we report a unique case of nonsyndromic retinitis pigmentosa with foveal sparing and preserved central vision in a patient harboring two pathogenic CEP290 variants. A 28-year-old woman presented with longstanding poor peripheral vision and nyctalopia since childhood, but with visual acuity of 20/25 bilaterally. Examination showed retinal arteriolar attenuation, diffuse foveal-sparing retinal atrophy, and peripheral bone spicule pigmentation. Genetic testing identified two pathogenic nonsense mutations in CEP290 (c.1666del and c.4057G>T) and heterozygous missense mutations in BBS5 (c.715A>G), PDE6A (c.367G>T), and RPGR (c.2594_2596del), which were variants of unknown significance. Although nonsense mutations in CEP290 are associated with severe and early-onset vision loss, our patient demonstrated a mild retinitis pigmentosa phenotype with stable disease over 6 months. This case expands the phenotypic spectrum of CEP290-associated diseases and suggests a potential role for genetic modifiers in disease severity. - Source: PubMed
Publication date: 2025/05/23
Kikani Bijal AUeberroth Jordan AChristensen Cory ABreazzano Mark P