| Literature DB >> 21863053 |
Marian M Humphries1, Paul F Kenna, Matthew Campbell, Lawrence C S Tam, Anh T H Nguyen, G Jane Farrar, Marina Botto, Anna Sophia Kiang, Peter Humphries.
Abstract
Retinitis pigmentosa (RP) is a degenerative retinal disease involving progressive loss of rod and cone photoreceptor function. It represents the most common form of registered blindness among the working aged populations of developed countries. Given the immense genetic heterogeneity associated with this disease, parameters influencing cone photoreceptor survival (preservation of daytime vision) that are independent of primary mutations are exceedingly important to identify from a therapeutic standpoint. Here we identify C1q, the primary component of the classical complement pathway, as a cone photoreceptor neuronal survival factor.Entities:
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Year: 2011 PMID: 21863053 PMCID: PMC3234518 DOI: 10.1038/ejhg.2011.151
Source DB: PubMed Journal: Eur J Hum Genet ISSN: 1018-4813 Impact factor: 4.246