Navigation Links
Researchers define role of CEP290 in maintaining ciliary function

A new study in the September 6 issue of the Journal of Cell Biology ( helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases.

Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated blindness to perinatal death. CEP290 mutations are known to cause Meckel syndrome, Joubert syndrome, and NPHPthe most common syndromic form of cystic kidney disease in childhoodamong others.

Although the exact role of CEP290 has been unclear, a team of researchers from the University of Massachusetts Medical School and Yale University now demonstrate that CEP290 is an integral component of the ciliary "gate" that bridges the transition zone between the cilia and cytoplasm. The protein plays an important role in maintaining the structural integrity of this gate, and thus has a crucial role in maintaining ciliary function.


Contact: Rita Sullivan
Rockefeller University Press

Page: 1

Related biology news :

1. Research about Brazilian marine biodiversity brings researchers from 5 countries together
2. Researchers identify how bone-marrow stem cells hold their breath in low-oxygen environments
3. Bochums researchers discover proton diode
4. U-M researchers receive largest single collection of psoriasis DNA samples
5. Researchers analyze the environmentalists paradox
6. Researchers develop simulation to better understand the effects of sound on marine life
7. U of Alberta researchers discover important mechanism in fighting infection
8. UBC researchers unveil toolbox of MiniPromoters for gene research and therapy
9. Researchers to activate anti-cancer gene
10. ISU researchers develop hybrid protein tools for gene cutting and editing
11. Researchers discover novel mechanism protecting plants against freezing
Post Your Comments:
(Date:6/22/2016)... 2016   Acuant , the leading ... has partnered with RightCrowd ® to ... Management, Self-Service Kiosks and Continuous Workforce Assurance. ... functional enhancements to existing physical access control ... with an automated ID verification and authentication ...
(Date:6/15/2016)... ALBANY, New York , June 15, 2016 ... published a new market report titled "Gesture Recognition Market ... Trends and Forecast, 2016 - 2024". According to the ... at USD 11.60 billion in 2015 and is ... and reach USD 48.56 billion by 2024.  ...
(Date:6/2/2016)... The Department of Transport Management (DOTM) ... million US Dollar project, for the , Supply ... Enrolment, and IT Infrastructure , to ... implementation of Identity Management Solutions. Numerous renowned international vendors participated ... was selected for the most compliant and innovative ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... ... June 27, 2016 , ... Parallel 6 , the leading software as ... Clinical Reach Virtual Patient Encounter CONSULT module which enables both audio and video ... trial team. , Using the CONSULT module, patients and physicians can schedule a face ...
(Date:6/27/2016)... , June 27, 2016  Liquid Biotech ... the funding of a Sponsored Research Agreement with ... tumor cells (CTCs) from cancer patients.  The funding ... CTC levels correlate with clinical outcomes in cancer ... data will then be employed to support the ...
(Date:6/24/2016)... SAN DIEGO , June 24, 2016 /PRNewswire/ ... that more sensitively detects cancers susceptible to PARP ... individual circulating tumor cells (CTCs). The new test ... of HRD-targeted therapeutics in multiple cancer types. ... therapies targeting DNA damage response pathways, including PARP, ...
(Date:6/23/2016)... ... June 23, 2016 , ... Mosio, a leader ... “Clinical Trials Patient Recruitment and Retention Tips.” Partnering with experienced clinical research professionals, ... providing practical tips, tools, and strategies for clinical researchers. , “The landscape of ...
Breaking Biology Technology: