Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-125-->Arg in the transmembrane helix C.

Eitemau Tebyg

• Structure and function in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa.
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• Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa
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• Structure and function in rhodopsin: Mass spectrometric identification of the abnormal intradiscal disulfide bond in misfolded retinitis pigmentosa mutants
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• Pharmacological clearance of misfolded rhodopsin for the treatment of RHO-associated retinitis pigmentosa.
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  Cyhoeddwyd: (2020)
• The Retinitis Pigmentosa-Linked Mutations in Transmembrane Helix 5 of Rhodopsin Disrupt Cellular Trafficking Regardless of Oligomerization State
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  Cyhoeddwyd: (2018)