Cargando…

Behavioral Phenotyping of Bbs6 and Bbs8 Knockout Mice Reveals Major Alterations in Communication and Anxiety

The primary cilium is an organelle with a central role in cellular signal perception. Mutations in genes that encode cilia-associated proteins result in a collection of human syndromes collectively termed ciliopathies. Of these, the Bardet-Biedl syndrome (BBS) is considered one of the archetypical c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rödig, Nathalie, Sellmann, Kristin, dos Santos Guilherme, Malena, Nguyen, Vu Thu Thuy, Cleppien, Dirk, Stroh, Albrecht, May-Simera, Helen Louise, Endres, Kristina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9741393/ https://www.ncbi.nlm.nih.gov/pubmed/36498834 http://dx.doi.org/10.3390/ijms232314506

Ejemplares similares

Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)
por: Álvarez-Satta, María, et al.
Publicado: (2017)

Neofunctionalization of ciliary BBS proteins to nuclear roles is likely a frequent innovation across eukaryotes
por: Ewerling, Alexander, et al.
Publicado: (2023)

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
por: Grudzinska Pechhacker, Monika K., et al.
Publicado: (2021)

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts
por: Eintracht, Jonathan, et al.
Publicado: (2021)

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations
por: Kantaputra, Piranit, et al.
Publicado: (2022)

BBS proteins run an export business
por: Short, Ben
Publicado: (2009)

BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors
por: Xu, Qingwen, et al.
Publicado: (2015)

Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model
por: Cring, Matthew R., et al.
Publicado: (2022)

Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium
por: Schneider, Sandra, et al.
Publicado: (2021)

Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice
por: Chamling, Xitiz, et al.
Publicado: (2013)

De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1
por: Freke, Grace Mercedes, et al.
Publicado: (2023)

Paramecium BBS genes are key to presence of channels in Cilia
por: Valentine, Megan Smith, et al.
Publicado: (2012)

Functional modelling of a novel mutation in BBS5
por: Al-Hamed, Mohamed H, et al.
Publicado: (2014)

A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish
por: Kim, Yun Hee, et al.
Publicado: (2013)

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation
por: Yan, Kai, et al.
Publicado: (2022)

Exome capture sequencing identifies a novel mutation in BBS4
por: Wang, Hui, et al.
Publicado: (2011)

Identification and Characterization of a Novel Allele of Caenorhabditis elegans bbs-7
por: Braunreiter, Kara, et al.
Publicado: (2014)

Fall- and BBS-related differences in muscle strength and postural balance of the elderly
por: Choi, Jin-Seung, et al.
Publicado: (2016)

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes
por: Zhang, Qihong, et al.
Publicado: (2012)

BBS4 Is Necessary for Ciliary Localization of TrkB Receptor and Activation by BDNF
por: Leitch, Carmen C., et al.
Publicado: (2014)

BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex
por: Nozaki, Shohei, et al.
Publicado: (2018)

Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
por: Manara, Elena, et al.
Publicado: (2019)

A comparative study of online communities and popularity of BBS in four Chinese universities
por: Yang, Hao-Nan, et al.
Publicado: (2020)

BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis
por: Chang, Pi En, et al.
Publicado: (2021)

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
por: Forsythe, Elizabeth, et al.
Publicado: (2023)

Adipose Tissue Hyperplasia and Hypertrophy in Common and Syndromic Obesity—The Case of BBS Obesity
por: Horwitz, Avital, et al.
Publicado: (2023)

A BBS4 mutation causes autosomal dominant polycystic liver disease
por: Cui, Yalu, et al.
Publicado: (2023)

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
por: Cognard, Noëlle, et al.
Publicado: (2015)

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
por: Pretorius, Pamela R., et al.
Publicado: (2010)

The functional relationships between BBS and MKS and their role in regulating trafficking of proteins in the primary cilium
por: Bangs, F, et al.
Publicado: (2012)

The Leishmania major BBSome subunit BBS1 is essential for parasite virulence in the mammalian host
por: Price, Helen P, et al.
Publicado: (2013)

BBS Posts Time Series Analysis based on Sample Entropy and Deep Neural Networks
por: Chen, Jindong, et al.
Publicado: (2019)

Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene
por: Guardiola, Gabriel, et al.
Publicado: (2021)

Primary Cilia Structure Is Prolonged in Enteric Neurons of 5xFAD Alzheimer’s Disease Model Mice
por: Nguyen, Vu Thu Thuy, et al.
Publicado: (2021)

Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects
por: Veleri, Shobi, et al.
Publicado: (2012)

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration
por: Pretorius, Pamela R., et al.
Publicado: (2011)

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome
por: Chamling, Xitiz, et al.
Publicado: (2014)

BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance
por: Bales, Katie L., et al.
Publicado: (2020)

Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins
por: Gupta, Neha, et al.
Publicado: (2022)

A 5′ UTR Mutation Contributes to Down-Regulation of Bbs7 in the Berlin Fat Mouse
por: Mohebian, Kourosh, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_h1e4gvvjrv5fcnoh8l1cjkqa8l