A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

• Published in: Human molecular genetics Vol. 17; no. 1; pp. 71 - 86
• Main Authors: Maerker, Tina, van Wijk, Erwin, Overlack, Nora, Kersten, Ferry F.J., McGee, JoAnn, Goldmann, Tobias, Sehn, Elisabeth, Roepman, Ronald, Walsh, Edward J., Kremer, Hannie, Wolfrum, Uwe
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.01.2008; Oxford Publishing Limited (England)
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Animals; Biological and medical sciences; Cercopithecus aethiops; COS Cells; Extracellular Matrix Proteins - genetics; Extracellular Matrix Proteins - metabolism; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Humans; In Vitro Techniques; Membrane Proteins - genetics; Membrane Proteins - metabolism; Mice; Mice, Inbred C57BL; Mice, Knockout; Microscopy, Immunoelectron; Models, Biological; Molecular and cellular biology; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; NIH 3T3 Cells; Photoreceptor Cells, Vertebrate - metabolism; Photoreceptor Cells, Vertebrate - ultrastructure; Protein Interaction Mapping; Receptors, G-Protein-Coupled - deficiency; Receptors, G-Protein-Coupled - genetics; Subcellular Fractions - metabolism; Transfection; Usher Syndromes - classification; Usher Syndromes - genetics; Usher Syndromes - metabolism; Xenopus; Xenopus - genetics; Xenopus - metabolism; Eye; Visual system; Retina; Genetics; Protein; Photoreceptor

The human Usher syndrome (USH) is the most frequent cause of combined deaf–blindness. USH is genetically heterogeneous with at least 12 chromosomal loci assigned to three clinical types, USH1–3. Although these USH types exhibit similar phenotypes in human, the corresponding gene products belong to v...