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Our laboratory
studies mechanisms of retinal degeneration caused by gene mutations
as well as techniques to introduce therapeutic genes into photoreceptor
cells in vivo (gene therapy). We are currently studying the functions
of several proteins important for photoreceptor function and/or
involved in retinal degenerative diseases. These include the
retinitis pigmentosa GTPase regulator, the tubby family of proteins,
and the mammalian homologs of the Drosophila rdgB protein. Preliminary
studies indicate that they are not components of the phototransduction
cascade but that they may participate in membrane/protein trafficking
through the inner segments or across the connecting cilia of
photoreceptor cells. Specific hypotheses have been put forward
regarding the physiological functions of these proteins, linking
them to active transport or a diffusion barrier function across
the connecting cilium, specificity of vesicle translocation,
and membrane vesicle budding, respectively. A deficit in any
of these functions will impact photoreceptor function and viability,
and therefore may be a cause of photoreceptor degeneration. Experimental
approaches will emphasize a combination of in vivo analyses of
animal models, in vitro biochemical characterizations, and a
dissection of the molecular pathways through a search for interacting
proteins. Following the elucidation of the phototransduction
cascade, many of the remaining genes, implicated in retinal degeneration
but whose functions remain poorly understood, may encode essential
functions in the process of photoreceptor membrane renewal. Therefore
our studies will be of major importance to photoreceptor disease
mechanisms. |
Publications
Lab
Members Links
E-Mail:
tli@meei.harvard.edu