Literature DB >> 22446182

A "so cilia" network: cilia proteins start "social" networking.

Frédéric Saudou1.   

Abstract

Cilia are unique cellular organelles found in nearly all cell types. In recent years, the importance of these organelles has been highlighted by the discovery that mutations in genes encoding proteins related to cilia biogenesis and function cause a class of complex syndromes termed ciliopathies. Emerging evidence suggests interactions among the various ciliopathy-associated proteins, but the precise mechanisms by which these interactions generate functional networks have remained elusive. In this issue of the JCI, Rachel and colleagues have now clearly linked two ciliopathy-associated proteins (CEP290 and MKKS). Surprisingly, the effects of a hypomorphic disease-causing Cep290 allele were rescued by loss of MKKS function, suggesting that it might be possible to treat some ciliopathies by fine-tuning interactions within the expanding ciliary network.

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Year:  2012        PMID: 22446182      PMCID: PMC3314480          DOI: 10.1172/JCI62971

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  20 in total

1.  A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

Authors:  Maxence V Nachury; Alexander V Loktev; Qihong Zhang; Christopher J Westlake; Johan Peränen; Andreas Merdes; Diane C Slusarski; Richard H Scheller; J Fernando Bazan; Val C Sheffield; Peter K Jackson
Journal:  Cell       Date:  2007-06-15       Impact factor: 41.582

Review 2.  Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

Authors:  Norann A Zaghloul; Nicholas Katsanis
Journal:  J Clin Invest       Date:  2009-03-02       Impact factor: 14.808

3.  BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

Authors:  Seongjin Seo; Lisa M Baye; Nathan P Schulz; John S Beck; Qihong Zhang; Diane C Slusarski; Val C Sheffield
Journal:  Proc Natl Acad Sci U S A       Date:  2010-01-04       Impact factor: 11.205

4.  Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Authors:  Rivka A Rachel; Helen L May-Simera; Shobi Veleri; Norimoto Gotoh; Byung Yoon Choi; Carlos Murga-Zamalloa; Jeremy C McIntyre; Jonah Marek; Irma Lopez; Alice N Hackett; Jun Zhang; Matthew Brooks; Anneke I den Hollander; Philip L Beales; Tiansen Li; Samuel G Jacobson; Raman Sood; Jeffrey R Martens; Paul Liu; Thomas B Friedman; Hemant Khanna; Robert K Koenekoop; Matthew W Kelley; Anand Swaroop
Journal:  J Clin Invest       Date:  2012-03-26       Impact factor: 14.808

5.  Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.

Authors:  Melissa A Fath; Robert F Mullins; Charles Searby; Darryl Y Nishimura; Jun Wei; Kamal Rahmouni; Roger E Davis; Marwan K Tayeh; Michael Andrews; Baoli Yang; Curt D Sigmund; Edwin M Stone; Val C Sheffield
Journal:  Hum Mol Genet       Date:  2005-03-16       Impact factor: 6.150

6.  CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.

Authors:  William Y Tsang; Carine Bossard; Hemant Khanna; Johan Peränen; Anand Swaroop; Vivek Malhotra; Brian David Dynlacht
Journal:  Dev Cell       Date:  2008-08       Impact factor: 12.270

7.  Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.

Authors:  Dyke P McEwen; Robert K Koenekoop; Hemant Khanna; Paul M Jenkins; Irma Lopez; Anand Swaroop; Jeffrey R Martens
Journal:  Proc Natl Acad Sci U S A       Date:  2007-09-26       Impact factor: 11.205

Review 8.  The vertebrate primary cilium in development, homeostasis, and disease.

Authors:  Jantje M Gerdes; Erica E Davis; Nicholas Katsanis
Journal:  Cell       Date:  2009-04-03       Impact factor: 41.582

Review 9.  Leber congenital amaurosis: genes, proteins and disease mechanisms.

Authors:  Anneke I den Hollander; Ronald Roepman; Robert K Koenekoop; Frans P M Cremers
Journal:  Prog Retin Eye Res       Date:  2008-06-01       Impact factor: 21.198

10.  CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

Authors:  Joon Kim; Suguna Rani Krishnaswami; Joseph G Gleeson
Journal:  Hum Mol Genet       Date:  2008-09-04       Impact factor: 6.150

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  2 in total

1.  Fetus sound stimulation: cilia memristor effect of signal transduction.

Authors:  Svetlana Jankovic-Raznatovic; Svetlana Dragojevic-Dikic; Snezana Rakic; Branka Nikolic; Snezana Plesinac; Lidija Tasic; Zivko Perisic; Mirjana Sovilj; Tatjana Adamovic; Djuro Koruga
Journal:  Biomed Res Int       Date:  2014-02-26       Impact factor: 3.411

Review 2.  Digenic inheritance in medical genetics.

Authors:  Alejandro A Schäffer
Journal:  J Med Genet       Date:  2013-06-19       Impact factor: 6.318

  2 in total

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