Affinage

BBS2

BBSome complex member BBS2 · UniProt Q9BXC9

Length
721 aa
Mass
79.8 kDa
Annotated
2026-04-28
74 papers in source corpus 14 papers cited in narrative 15 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

BBS2 is a core subunit of the BBSome, a multiprotein complex essential for intraflagellar transport and ciliary membrane protein trafficking across diverse tissues. Mutations in BBS2 cause Bardet-Biedl syndrome, and loss of BBS2 in mouse, zebrafish, and patient-derived cells disrupts ciliogenesis, mislocalize rhodopsin and SSTR3 from cilia, and leads to photoreceptor apoptosis, cone degeneration, renal cysts, male infertility, and olfactory deficits (PMID:11285252, PMID:15539463, PMID:33324636, PMID:34365092). The BBSome, including BBS2, functionally cooperates with the ARL6/BBS3 GTPase for ciliary entry, interacts with the transition zone protein CEP290 through BBS4, and modulates Hedgehog signaling by controlling the ciliary levels of Smoothened and Patched1 (PMID:22139371, PMID:23943788, PMID:22228099). Assembly and stability of the BBSome involve interactions with the TRiC/CCT chaperonin complex and BBS chaperonin-like proteins (PMID:37427378).

Mechanistic history

Synthesis pass · year-by-year structured walk · 9 steps
  1. 2001 High

    Positional cloning identified BBS2 as a novel causative gene for Bardet-Biedl syndrome, establishing it as genetically required for the pleiotropic BBS phenotype but leaving its molecular function unknown.

    Evidence Linkage analysis and mutation screening in multiple BBS pedigrees mapped BBS2 to chromosome 16q21

    PMID:11285252

    Open questions at the time
    • Protein function and subcellular localization unknown
    • No interacting partners identified
    • Disease mechanism uncharacterized
  2. 2003 Medium

    Sequence homology between BBS2, BBS1, and BBS7 defined a shared structural domain, suggesting a common molecular function, while cell-based assays showed that disease-causing missense mutations disrupt BBS2 subcellular localization.

    Evidence Phylogenetic analysis of BBS protein sequences; transfection of mutant BBS2 constructs with fluorescence localization assays in mammalian cells

    PMID:12567324 PMID:12837689

    Open questions at the time
    • No biochemical activity assigned to the BBS2-like domain
    • Endogenous localization not determined
    • No binding partners identified
  3. 2004 High

    Knockout mouse and C. elegans studies established that BBS proteins, including BBS2, are ciliary components required for intraflagellar transport, rhodopsin trafficking, and photoreceptor survival, linking BBS pathology to cilia dysfunction.

    Evidence Bbs2 knockout mice showing rhodopsin mislocalization and photoreceptor apoptosis; live imaging of BBS-7/BBS-8 in C. elegans cilia demonstrating IFT-like movement and IFT particle assembly defects upon loss

    PMID:15231740 PMID:15539463

    Open questions at the time
    • Whether BBS2 moves along cilia itself not shown
    • Mechanism of rhodopsin transport by BBS2/BBSome not defined
    • How BBS proteins assemble into a complex unknown
  4. 2011 High

    The demonstration that the BBSome and BBS3/ARL6 GTPase are co-dependent for ciliary localization and jointly required for GPCR trafficking established the regulatory mechanism by which BBSome ciliary entry is controlled.

    Evidence Endogenous co-immunoprecipitation and Bbs3 knockout mouse analysis of BBSome ciliary localization and MCHR1 trafficking

    PMID:22139371

    Open questions at the time
    • Direct role of BBS2 versus other BBSome subunits in ARL6 binding not resolved
    • Whether ARL6-GTP acts as a membrane recruitment factor or allosteric activator unclear
  5. 2012 High

    Genetic and localization studies revealed that the BBSome modulates Hedgehog signaling by regulating ciliary levels of Smoothened and Patched1, and interacts genetically with the IFT pathway, extending BBSome function beyond cargo delivery to developmental signaling.

    Evidence BBS knockout mice with ciliary Smoothened/Patched1 accumulation; Bbs7/Ift88 double-mutant epistasis causing embryonic lethality; co-IP of BBSome subunits in Paramecium

    PMID:22228099 PMID:23351336

    Open questions at the time
    • Whether BBSome directly removes Smoothened from cilia or acts indirectly unknown
    • BBS2-specific contribution to Shh pathway regulation not isolated from other subunits
  6. 2013 High

    Physical interaction between the BBSome and the transition zone protein CEP290 through BBS4 revealed how the BBSome coordinates with the ciliary gate to control protein composition of the ciliary compartment.

    Evidence Co-immunoprecipitation mapping the BBSome–CEP290 interaction; Bbs4/Cep290 double-mutant mice with quantitative phenotypic analysis

    PMID:23943788

    Open questions at the time
    • BBS2's direct contact with CEP290 not demonstrated (interaction mapped to BBS4)
    • Structural basis of BBSome–transition zone interaction unknown
  7. 2020 High

    Zebrafish bbs2 mutants demonstrated that BBS2 is required for cone photoreceptor survival and that its loss triggers neuroinflammation, extending the retinal degeneration phenotype beyond rods.

    Evidence Zebrafish bbs2 genetic mutants with optokinetic response testing, microglial marker immunohistochemistry, and retinal histology

    PMID:33324636

    Open questions at the time
    • Molecular mechanism of cone versus rod vulnerability to BBS2 loss not defined
    • Whether neuroinflammation is cause or consequence of degeneration unclear
  8. 2021 High

    Pharmacological restoration of BBS2 expression in patient cells rescued ciliogenesis and ciliary protein trafficking, directly confirming BBS2's requirement for cilia formation and establishing proof-of-concept for translational readthrough therapy.

    Evidence Readthrough drug treatment of BBS2-nonsense patient fibroblasts with ciliogenesis quantification, IFT88 and SSTR3 ciliary localization assays

    PMID:34365092

    Open questions at the time
    • In vivo efficacy of readthrough drugs not tested
    • Whether partial BBS2 restoration is sufficient for long-term ciliary function unknown
  9. 2023 Medium

    Proteomics identified the TRiC/CCT chaperonin as a BBSome interactor at photoreceptor cilia, implicating chaperone-assisted assembly in BBSome biogenesis, while nuclear localization of BBS2 was confirmed but functionally unexplored.

    Evidence Tandem affinity purification–mass spectrometry with retinal immunohistochemistry; cell fractionation and immunocytochemistry for nuclear BBS2

    PMID:37034981 PMID:37427378

    Open questions at the time
    • Functional role of TRiC in BBSome assembly not validated by reconstitution
    • Nuclear function of BBS2 completely uncharacterized
    • Whether nuclear localization is a general BBSome subunit property or BBS2-specific unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • The structural basis of BBS2 within the BBSome, its specific cargo-recognition interfaces, and any cilia-independent functions (nuclear, adipogenic) remain undefined.
  • No high-resolution structure of BBS2 within the BBSome complex in the timeline
  • Direct substrates or cargo-binding surfaces of BBS2 not mapped
  • Cilia-independent roles (nuclear, adipogenesis) lack mechanistic depth

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3
Localization
GO:0005929 cilium 5 GO:0005815 microtubule organizing center 1
Pathway
R-HSA-1852241 Organelle biogenesis and maintenance 4 R-HSA-9609507 Protein localization 3 R-HSA-162582 Signal Transduction 2
Partners
ARL6BBS1BBS4BBS7BBS8BBS9CEP290
Complex memberships
BBSome

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 BBS2 was identified as a novel gene on chromosome 16q21 whose mutations cause Bardet-Biedl syndrome; it shows wide tissue expression, establishing it as a disease-causing gene with a role in the pleiotropic BBS phenotype. Positional cloning, mutation screening, linkage analysis Human molecular genetics High 11285252
2003 BBS2 shares structural/sequence similarity with BBS1 and BBS7, defining a conserved functional domain (the BBS2-like motif) present in at least three BBS proteins, suggesting a shared molecular function. Phylogenetic sequence analysis and genomic comparison of BBS2, BBS1, and BBS7 peptide sequences American journal of human genetics Medium 12567324
2003 A missense mutation in BBS2 introduced into mammalian cells causes dramatic mislocalization of the BBS2 protein compared to wild-type, demonstrating that specific residues are required for correct subcellular localization. Transfection of mutant BBS2 construct into mammalian cells with fluorescence-based localization assay Human molecular genetics Medium 12837689
2004 Loss of Bbs2 in mice causes mislocalization of rhodopsin from the outer segment in photoreceptors, indicating BBS2 is required for ciliary transport of rhodopsin; photoreceptor cell death occurs via apoptosis following this mislocalization. Bbs2 knockout mouse model; immunolocalization of rhodopsin; TUNEL/apoptosis assay; histological analysis of retina Proceedings of the National Academy of Sciences of the United States of America High 15539463
2004 Bbs2-null mice develop phenotypes consistent with cilia dysfunction: retinopathy, renal cysts, male infertility, and olfactory deficits, placing BBS2 as required for normal cilia function in multiple tissues. Bbs2 knockout mouse model; phenotypic characterization including renal histology, fertility assays, olfactory behavior testing Proceedings of the National Academy of Sciences of the United States of America High 15539463
2004 C. elegans BBS-7 (ortholog of human BBS7, which shares the BBS2-like domain) and BBS-8 localize to the base of cilia and move bidirectionally along the ciliary axoneme like IFT proteins; loss of these BBS proteins causes mislocalization/altered motility of IFT components OSM-5/Polaris and CHE-11, demonstrating BBS proteins are required for normal IFT particle assembly or function. GFP fusion localization in C. elegans cilia; fluorescence time-lapse imaging of IFT protein movement; genetic loss-of-function assays Genes & development High 15231740
2011 BBS3 (ARL6) and the BBSome complex (which includes BBS2) physically interact; they co-depend on each other for their ciliary localization. Loss of Bbs3 disrupts ciliary localization of melanin concentrating hormone receptor 1 and affects retrograde transport of Smoothened inside cilia. Co-immunoprecipitation of endogenous proteins; fractionation; Bbs3 knockout mouse model; immunofluorescence localization of BBSome and BBS3 Proceedings of the National Academy of Sciences of the United States of America High 22139371
2012 Loss of BBS genes (including Bbs7 tested directly) results in accumulation of Smoothened and Patched 1 in cilia and a decreased Shh response; genetic epistasis between Bbs7 loss and a hypomorphic Ift88 allele (orpk) causes embryonic lethality with severe developmental defects, demonstrating BBS proteins modulate Shh pathway activity and interact genetically with the IFT pathway. BBS knockout mice; immunofluorescence of Smoothened and Patched1 in cilia; Bbs7/Ift88 double-mutant genetic epistasis Human molecular genetics High 22228099
2012 In Paramecium, BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 co-immunoprecipitate, indicating they form a protein complex (BBSome); depletion of BBS7, BBS8, or BBS9 (but not BBS2) causes selective loss of K+ channel and PKD2 from cilia, demonstrating the BBSome is required for ciliary targeting of specific membrane channels. Co-immunoprecipitation and mass spectrometry in Paramecium; RNAi depletion combined with epitope-tagged ciliary proteins; swimming behavior assays Cilia Medium 23351336
2013 The BBSome (containing BBS2) physically binds to the N-terminal region of CEP290 through BBS4, and co-localizes with CEP290 at the transition zone of primary cilia, centriolar satellites, and the connecting cilium of photoreceptors; BBSome depletion disperses CEP290 from centriolar satellites throughout the cytoplasm. Co-immunoprecipitation; immunofluorescence co-localization; Bbs4/Cep290 double-mutant mouse genetic interaction Human molecular genetics High 23943788
2020 Loss of bbs2 in zebrafish results in progressive cone photoreceptor degeneration accompanied by activated microglia (neuroinflammation), demonstrating BBS2 is required for cone survival; the degeneration is insufficient to trigger robust Müller glia-mediated regeneration. Zebrafish bbs2 mutants; visual function assays (optokinetic response); immunohistochemistry for microglia markers; retinal histology Frontiers in cell and developmental biology High 33324636
2021 Translational readthrough-inducing drugs (PTC124/ataluren and amlexanox) restore full-length BBS2 protein expression in patient fibroblasts carrying nonsense mutations; restored BBS2 expression corrects ciliogenesis defects, recovers IFT88 expression in cilia, and rescues SSTR3 ciliary localization, demonstrating BBS2 is required for ciliogenesis and ciliary protein trafficking. Drug treatment of patient-derived fibroblasts; western blot for BBS2 protein; immunofluorescence for cilia markers IFT88 and SSTR3; ciliogenesis quantification EBioMedicine High 34365092
2022 BBS2 knockdown in bovine preadipocytes promotes adipogenesis and lipid accumulation by stimulating PPARγ, FABP4, and FASN expression, indicating BBS2 negatively regulates adipogenesis. siRNA knockdown of BBS2 in bovine preadipocytes; Oil Red O staining; qRT-PCR for adipogenic markers Genomics Low 35718089
2023 BBS proteins including BBS2 (as part of the BBSome) interact with the TRiC/CCT chaperonin complex and the BBS chaperonin-like proteins; these interactions were identified by tandem affinity purification/mass spectrometry and confirmed to co-localize at photoreceptor cilia. Tandem affinity purification combined with mass spectrometry; immunohistochemistry on retinal sections Frontiers in cell and developmental biology Medium 37427378
2023 BBS2 (and other BBS proteins) are predicted to have nuclear localization signals, and nuclear localization of BBS proteins was confirmed in human cells by fractionation and immunocytochemistry, suggesting BBS2 may have nuclear functions independent of its ciliary role. Computational nuclear signal prediction; cell fractionation; immunocytochemistry in mammalian cells iScience Low 37034981

Source papers

Stage 0 corpus · 74 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proceedings of the National Academy of Sciences of the United States of America 305 15539463
2004 Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes & development 284 15231740
2004 Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nature genetics 267 15322545
2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature genetics 223 16582908
2001 Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Human molecular genetics 206 11285252
2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. American journal of human genetics 196 12677556
2006 Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. American journal of human genetics 179 17160889
2003 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. American journal of human genetics 172 12567324
2003 Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Human molecular genetics 153 12837689
2012 BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Human molecular genetics 116 22228099
2012 The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium. Molecular biology of the cell 115 22767577
2011 Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proceedings of the National Academy of Sciences of the United States of America 115 22139371
2013 BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Human molecular genetics 94 23943788
2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Journal of medical genetics 71 20472660
2000 Anaerobic toluene catabolism of Thauera aromatica: the bbs operon codes for enzymes of beta oxidation of the intermediate benzylsuccinate. Journal of bacteriology 70 10629170
2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. European journal of human genetics : EJHG 60 15770229
2011 U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Human mutation 57 21520335
2012 Paramecium BBS genes are key to presence of channels in Cilia. Cilia 44 23351336
2009 Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proceedings of the National Academy of Sciences of the United States of America 44 19666486
2006 Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. Investigative ophthalmology & visual science 44 16877420
1998 Unusual organization of the genes coding for HydSL, the stable [NiFe]hydrogenase in the photosynthetic bacterium Thiocapsa roseopersicina BBS. Journal of bacteriology 43 9515914
2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. European journal of human genetics : EJHG 41 16823392
2015 Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA ophthalmology 39 25541840
2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. European journal of medical genetics 39 26518167
2010 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. European journal of medical genetics 34 21044901
2019 Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study. Italian journal of pediatrics 33 31196119
2010 New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. Molecular vision 33 20142850
2008 Electron-transfer subunits of the NiFe hydrogenases in Thiocapsa roseopersicina BBS. The FEBS journal 33 19019079
2020 Cone Photoreceptor Degeneration and Neuroinflammation in the Zebrafish Bardet-Biedl Syndrome 2 (bbs2) Mutant Does Not Lead to Retinal Regeneration. Frontiers in cell and developmental biology 31 33324636
2016 Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice. Journal of genetics and genomics = Yi chuan xue bao 30 27312011
2014 Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. Clinical genetics 29 24400638
2001 Apoptosis and disease progression in the spontaneously diabetic BB/S rat. Diabetologia 29 11317663
2004 Antioxidant enzyme activity and mRNA expression in the islets of Langerhans from the BB/S rat model of type 1 diabetes and an insulin-producing cell line. Journal of molecular medicine (Berlin, Germany) 27 15007513
2011 Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. Ophthalmic genetics 26 22004009
2014 Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. Journal of human genetics 24 24849935
2011 BBS mutational analysis: a strategic approach. Ophthalmic genetics 23 21463199
2021 Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort. Frontiers in cell and developmental biology 20 33777945
2021 Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts. EBioMedicine 19 34365092
1990 Intake of individual macronutrients following IP injections of BBS and CCK in rats. Peptides 19 2356153
2021 BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. International journal of molecular sciences 17 33572860
2010 A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. Clinical genetics 17 20618352
2010 A second soluble Hox-type NiFe enzyme completes the hydrogenase set in Thiocapsa roseopersicina BBS. Applied and environmental microbiology 16 20543059
2015 Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. BioMed research international 14 26078953
2021 A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities. Human molecular genetics 13 33560420
2022 Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes. Genetics 12 34850872
2014 Connection between the membrane electron transport system and Hyn hydrogenase in the purple sulfur bacterium, Thiocapsa roseopersicina BBS. Biochimica et biophysica acta 12 25111750
2005 No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. American journal of medical genetics. Part A 12 16104012
2005 Hydrogen independent expression of hupSL genes in Thiocapsa roseopersicina BBS. The FEBS journal 12 16156799
2023 Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins. Frontiers in cell and developmental biology 11 37427378
2023 Neofunctionalization of ciliary BBS proteins to nuclear roles is likely a frequent innovation across eukaryotes. iScience 9 37034981
2013 Carrier frequency of two BBS2 mutations in the Ashkenazi population. Clinical genetics 8 23829372
2022 The role of BBS2 in regulating adipogenesis and the association of its sequence variants with meat quality in Qinchuan cattle. Genomics 7 35718089
2021 Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet-Biedl Syndrome. Journal of ophthalmology 7 33520300
2023 Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS). Methods in cell biology 6 37164534
2021 A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. Genes 6 34828377
2022 Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. Genes 5 36672825
2023 Comparative analysis of transcriptional changes in zebrafish cep290 and bbs2 mutants by RNA-seq reveals upregulation of inflammatory and stress-related pathways. Frontiers in molecular neuroscience 4 37293546
2023 Changes in expression of mesothelial BBS genes in 2D and 3D after lithium chloride and ammonium sulphate induction of primary cilium disturbance: a pilot study. Pharmacological reports : PR 4 37542187
2022 Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet-Biedl syndrome. European journal of ophthalmology 3 36325687
2014 Identification and characterization of a novel allele of Caenorhabditis elegans bbs-7. PloS one 3 25486278
2025 The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to the base of primary cilia. Frontiers in cell and developmental biology 2 40103630
2021 Generation of induced pluripotent stem cells from a Bardet-Biedl syndrome patient carrying a homologous BBS2 c.534 + 1G > T mutation. Stem cell research 2 34364070
2025 Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy. International journal of molecular sciences 1 41096698
2024 BBS genes are involved in accelerated proliferation and early differentiation of BBS-related tissues. Differentiation; research in biological diversity 1 38215537
2024 Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A. Biochemical genetics 1 38407766
2024 Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report. The Journal of international medical research 1 39175229
2021 Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome. BioMed research international 1 33688495
2014 Interaction of HydSL hydrogenase from the purple sulfur bacterium Thiocapsa roseopersicina BBS with methyl viologen and positively charged polypeptides. Biochemistry. Biokhimiia 1 25365490
2026 A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family. Genetics and molecular biology 0 41686921
2025 Homology search confirms widespread presence of BBSome proteins in Hexapoda with implications for potential non-ciliary BBS protein functions in honey bees. Scientific reports 0 41039016
2021 Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report. Puerto Rico health sciences journal 0 34792930
1995 The accessibility of thiophosphorylated groups in DNA fragments to the enzymatic activity of ligases and restriction endonuclease Bbs I. Biochemistry and molecular biology international 0 7580999
1994 White blood cell depletion of single-donor platelet preparations using the new adsorption filter biofil P 10 BBS. Beitrage zur Infusionstherapie und Transfusionsmedizin = Contributions to infusion therapy and transfusion medicine 0 9422101
1994 [Exceptional production of leukocyte-free erythrocyte concentrates using filtration with the BPF 4 BBS leukocyte filter]. Beitrage zur Infusionstherapie und Transfusionsmedizin = Contributions to infusion therapy and transfusion medicine 0 9480117