2022

CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient

2016

GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

Lipid transfer and metabolism across the endolysosomal-mitochondrial boundary

2014

Mitochondria and Melanosomes Establish Physical Contacts Modulated by Mfn2 and involved in Organelle Biogenesis

also referenced here - Organelle Interactions: Melanosomes and Mitochondria Get Cozy

2013

A Constitutively Active Gαi3 Protein Corrects the Abnormal Retinal Pigment Epithelium Phenotype of Oa1 -/- mice

L-Dopa and the Albino Riddle: Content of L-Dopa in the Developing Retina of Pigmented and Albino Mice

2011

Specific Interaction of the Gαi3 with the Oa1 G-Protein Coupled Receptor Controls the Size and Density of Melanosomes in Retinal Pigment Epithelium

Visual Acuity Development of Children with Infantile Nystagmus Syndrome


2010

Signaling Pathways in Melanosome Biogenesis and Pathology


2009

Transfer of MicroRNAs by Embryonic Stem Cell Microvesicles


2008

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

Involvement of OA1, an Intracellular GPCR, and Gαi3, its Binding Protein, in Melanosomal Biogenesis and Optic Pathway Formation

Retinal Function in X-Linked Ocular Albinism (OA1)


2006

An Unconventional Dileucine and a Novel Cytosolic Motif are required for the Lysosomal/Melanosomal Targeting of OA1

The Melanosomal/Lysosomal Protein OA1 has Properties of a G Protein-Coupled Receptor


2004

The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis


1999

X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats


1996

The Ocular Albinism Type 1 Gene Product is a membrane Glycoprotein Localized to Melanosomes