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PMID:14578428
| Citation |
Reiners, J, Reidel, B, El-Amraoui, A, Boëda, B, Huber, I, Petit, C and Wolfrum, U (2003) Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. Invest. Ophthalmol. Vis. Sci. 44:5006-15 |
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| Abstract |
Human Usher syndrome is the most common form of combined deafness and blindness. Usher type I (USH1), the most severe form, is characterized by profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa. Previous studies have shown that the USH1-proteins myosin VIIa, harmonin, and cadherin 23 interact and form a functional network during hair cell differentiation in the inner ear. The purpose of the present study was to analyze the molecular and cellular functions of these USH1 proteins in the mammalian retina. |
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| Keywords |
Animals; Blotting, Western; Cadherins/metabolism; Carrier Proteins/metabolism; Dyneins; Fluorescent Antibody Technique, Indirect; Mice; Mice, Inbred C57BL; Microscopy, Fluorescence; Microscopy, Immunoelectron; Myosins/metabolism; Photoreceptor Cells, Vertebrate/metabolism; Photoreceptor Cells, Vertebrate/ultrastructure; Protein Isoforms; Rats; Rats, Wistar; Reverse Transcriptase Polymerase Chain Reaction; Subcellular Fractions; Synaptophysin/metabolism |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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