BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
about
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 proteinIns and outs of GPCR signaling in primary ciliaThe role of primary cilia in the development and disease of the retinaHow do cilia organize signalling cascades?Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo deliveryMammalian Fused is essential for sperm head shaping and periaxonemal structure formation during spermatogenesisFunctional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degenerationEssential role of the chaperonin CCT in rod outer segment biogenesisCiliopathies: the trafficking connection.Identification and characterization of a novel allele of Caenorhabditis elegans bbs-7.BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.Dopamine receptors reveal an essential role of IFT-B, KIF17, and Rab23 in delivering specific receptors to primary ciliaFine mapping a major obesity locus (jObes1) using a Berlin Fat Mouse × B6N advanced intercross population.The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signalingDepletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice.The Leishmania major BBSome subunit BBS1 is essential for parasite virulence in the mammalian host.Primary cilia in neurodevelopmental disorders.A mutation study of sperm head shape and motility in the mouse: lessons for the clinic.Bardet-Biedl syndrome: Is it only cilia dysfunction?A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.Structural and molecular bases of rod photoreceptor morphogenesis and disease.Ciliopathies.Cilia and Obesity.(Pro)renin receptor (ATP6AP2) depletion arrests As4.1 cells in the G0/G1 phase thereby increasing formation of primary cilia.Genetics of body fat mass and related traits in a pig population selected for leannessIdentification of copy number variation in French dairy and beef breeds using next-generation sequencing.DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle.Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.Primary cilia proteins: ciliary and extraciliary sites and functions.Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.The molecular machines that traffic signaling receptors into and out of cilia.Control of Hedgehog Signalling by the Cilia-Regulated Proteasome.
P2860
Q24299480-A406C58C-CDDB-402D-B653-329559E8A916Q26795668-3963B1E7-1126-4F04-A270-FA3922AA5A45Q26822720-17012885-0761-45F5-AD0E-CEB9A108D36CQ27005693-4ABC9A8E-9E40-4EA1-BE49-2A454E9D57B1Q28116651-868453CA-D09B-4EEA-AA37-314ACE3873BCQ30575866-0F48C0C6-1073-4C23-8E82-485FE50DC7EAQ30585204-629336E4-B302-4B50-8423-27BE0218EA2FQ33767318-4E27466E-35F4-4859-86CE-D15DD02F1429Q33773479-EBBA0F0B-1D8D-48BC-82D3-94C2FDA63050Q34207085-B75BB211-8B52-4E50-B9A8-45744D44E7A8Q34653584-47CA5551-1403-46E7-A40F-6417CF7877E3Q35824731-1C93A5F0-39DB-41FC-BA07-BBF526A11A52Q35989399-2AE636A5-842A-4CF7-8375-8816B83119DFQ36107288-76271A03-0C3D-4E7A-BBED-3A2FC47F9FEDQ36307485-07E69E4B-6CA7-4FE1-9DB2-5F74440D4D3AQ37047757-AB8A600F-D650-4B26-8A15-8A3E33085A90Q37564796-B86EB51B-78DB-444C-9B43-60562885E546Q38168054-8C3C83AD-43C7-4498-853B-0FB3DC578854Q38289619-1B159F2C-8BD2-4E20-A465-58D00471E2BCQ38558495-2E597856-8E2D-4C4E-B704-60E81A05EB47Q38857397-2DFA9C73-E412-4FEA-B1F0-6838B05D8336Q38879791-2915A988-9FF3-43D4-83EE-CA7AF41FBCE5Q38994215-80CF4347-D5BF-4073-A596-E4BE39EFD559Q39092651-7E6E2B0D-1485-481C-A2F4-EF59449A459BQ41021509-7B0B5FE4-727B-4FCD-8548-9425B2571B7DQ41490210-3E2AFB9A-D763-4181-A106-0BB0C7673F35Q42633980-24E05721-B21F-411C-AFD7-635EA621FA62Q42804683-D1F9102D-6A8F-4F18-B75C-A70B11650CB6Q43074749-9E48FB78-AAC3-4832-A10B-48619E8489EAQ47145410-56D5D7EB-FDC4-4545-A779-4056ED88EED6Q47228439-20E1654D-7914-484C-9B03-98B45531D537Q49864627-4B566C08-EA1B-499A-BAD3-2640C8538AF9Q52341572-ADADF549-8D2F-4888-B181-02832C090A02Q55417331-83EC9144-3CCB-4C02-995C-A385C40F83FB
P2860
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
BBS7 is required for BBSome fo ...... membrane protein trafficking.
@en
type
label
BBS7 is required for BBSome fo ...... membrane protein trafficking.
@en
prefLabel
BBS7 is required for BBSome fo ...... membrane protein trafficking.
@en
P2093
P2860
P356
P1476
BBS7 is required for BBSome fo ...... membrane protein trafficking.
@en
P2093
Calvin S Carter
Charles Searby
Darryl Nishimura
Gunhee Kim
Jianqiang Shao
Kevin Bugge
Qihong Zhang
Ruth Swiderski
P2860
P304
P356
10.1242/JCS.111740
P407
P577
2013-04-09T00:00:00Z