Cargando…

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition

Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Retinal degeneration is common in ciliopathies, since the outer segments (OSs) of photoreceptors are highly specialized primary cilia. BBS1, encoded by the most commonly muta...

Descripción completa

Detalles Bibliográficos
Autores principales:	Masek, Markus, Etard, Christelle, Hofmann, Claudia, Hülsmeier, Andreas J., Zang, Jingjing, Takamiya, Masanari, Gesemann, Matthias, Neuhauss, Stephan C. F., Hornemann, Thorsten, Strähle, Uwe, Bachmann-Gagescu, Ruxandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8917222/ https://www.ncbi.nlm.nih.gov/pubmed/35277505 http://dx.doi.org/10.1038/s41467-022-28982-6

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)

The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance
por: Ojeda Naharros, Irene, et al.
Publicado: (2018)

Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance
por: Ojeda Naharros, Irene, et al.
Publicado: (2018)

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

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

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

A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina
por: Bolch, Susan N., et al.
Publicado: (2016)

Cone Photoreceptor Degeneration and Neuroinflammation in the Zebrafish Bardet-Biedl Syndrome 2 (bbs2) Mutant Does Not Lead to Retinal Regeneration
por: Song, Ping, et al.
Publicado: (2020)

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
por: Gupta, Neha, et al.
Publicado: (2022)

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

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

Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome
por: Tang, Hai‐Yan, et al.
Publicado: (2021)

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients
por: Hjortshøj, Tina Duelund, et al.
Publicado: (2008)

A novel mutation in BBS7 gene causes Bardet–Biedl syndrome in a Chinese family
por: Yang, Zhenglin, et al.
Publicado: (2008)

Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
por: Shin, Seok Joon, et al.
Publicado: (2015)

Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient
por: Kim, Yong Hoon, et al.
Publicado: (2020)

Identification of a Novel Homozygous Mutation in BBS10 Gene in an Iranian Family with Bardet-Biedl Syndrome
por: Dehani, Mohammad, et al.
Publicado: (2021)

Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors
por: Ojeda Naharros, Irene, et al.
Publicado: (2017)

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)

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
por: Keppler-Noreuil, Kim M, et al.
Publicado: (2011)

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome
por: Huang, Li, et al.
Publicado: (2021)

Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort
por: Meng, Xiaohong, et al.
Publicado: (2021)

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report
por: Focșa, Ina Ofelia, et al.
Publicado: (2021)

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping
por: Pereiro, Ines, et al.
Publicado: (2010)

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
por: Ajmal, Muhammad, et al.
Publicado: (2013)

A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak
por: Ohto, Tatsuyuki, et al.
Publicado: (2017)

Exome Sequencing of 21 Bardet‐Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians
por: Day, Samantha E., et al.
Publicado: (2021)

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations
por: Suárez-González, Julia, et al.
Publicado: (2021)

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome
por: Dehghan, Roghayeh, et al.
Publicado: (2022)

Bardet–Biedl Syndrome in an Ethiopian
por: Tsegaw, Asamere, et al.
Publicado: (2021)

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome
por: Schaefer, Elise, et al.
Publicado: (2019)

A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
por: Zhang, Yue, et al.
Publicado: (2021)

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
por: Seo, Seongjin, et al.
Publicado: (2009)

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins
por: Starks, Rachel D., et al.
Publicado: (2015)

Bardet-Biedl and Alström syndromes in Spain
por: Valverde, D, et al.
Publicado: (2012)

Bardet–Biedl syndrome: beyond the cilium
por: Tobin, Jonathan L., et al.
Publicado: (2007)

Kidney failure in Bardet–Biedl syndrome
por: Meyer, Jennifer R., et al.
Publicado: (2022)

Bardet–Biedl Syndrome Presenting in Adulthood
por: Ankleshwaria, Chinmay, et al.
Publicado: (2022)

Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling
por: Wiens, Cheryl J., et al.
Publicado: (2010)

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome
por: Bee, Yong Mong, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_910scgblkn63ef6m3hno1s7kk6