UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at http://www.ucl.ac.uk/finance/research/post_award/post_award_contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
Bestrophin1: A Gene that Causes Many Diseases
  • Publication Type:
    Conference
  • Authors:
    Smith JJ, Nommiste B, Carr A-JF
  • Publisher:
    Springer
  • Publication date:
    29/12/2019
  • Pagination:
    419, 423
  • Published proceedings:
    Retinal Degenerative Diseases. Mechanisms and Experimental Therapy
  • Volume:
    1185
  • Status:
    Published
  • Name of conference:
    18th International Symposium on Retinal Degeneration
  • Conference place:
    Killarney, Ireland
  • Conference start date:
    03/09/2018
  • Conference finish date:
    08/09/2018
  • Print ISSN:
    0065-2598
  • Language:
    eng
  • Keywords:
    BEST1, Bestrophinopathies, Induced pluripotent stem cells, Macula, RPE
Abstract
Bestrophinopathies are a group of clinically distinct inherited retinal dystrophies that lead to the gradual loss of vision in and around the macular area. There are no treatments for patients suffering from bestrophinopathies, and no measures can be taken to prevent visual deterioration in those who have inherited disease-causing mutations. Bestrophinopathies are caused by mutations in the Bestrophin1 gene (BEST1), a protein found exclusively in the retinal pigment epithelial (RPE) cells of the eye. Mutations in BEST1 affect the function of the RPE leading to the death of overlying retinal cells and subsequent vision loss. The pathogenic mechanisms arising from BEST1 mutations are still not fully understood, and it is not clear how mutations in BEST1 lead to diseases with distinct clinical features. This chapter discusses BEST1, the use of model systems to investigate the effects of mutations and the potential to investigate individual bestrophinopathies using induced pluripotent stem cells.
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers
Author
Institute of Ophthalmology
Author
Institute of Ophthalmology
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by