Debora B. Farber
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Decreased CREB phosphorylation impairs embryonic retinal neurogenesis in the<i>Oa1-/-</i>mouse model of Ocular albinism Open
Summary Mutations in the human Ocular albinism type-1 gene OA1 are associated with abnormal retinal pigment epithelium (RPE) melanogenesis and poor binocular vision resulting from misrouting of ipsilateral retinal ganglion cell (iRGC) axon…
CRISPR-AsCas12a Efficiently Corrects a <i>GPR143</i> Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient Open
Mutations in the GPR143 gene cause X-linked ocular albinism type 1 (OA1), a disease that severely impairs vision. We recently generated induced pluripotent stem cells (iPSCs) from skin fibroblasts of an OA1 patient carrying a point mutatio…
Human embryonic stem cells extracellular vesicles and their effects on immortalized human retinal Müller cells Open
Extracellular vesicles (EVs) released by virtually every cell of all organisms are involved in processes of intercellular communication through the delivery of their functional mRNAs, proteins and bioactive lipids. We previously demonstrat…
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism Open
Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal pigment epithelium (RPE). This disorder is characterized by both RPE macro-melan…