Marius Ueffing
French Institute of Health and Medical Research
Unfolded protein responseEndoplasmic reticulumEndoplasmic-reticulum-associated protein degradationRhodopsinMG132Valosin-containing proteinRetinal degenerationRetinitis pigmentosaBiochemistryBiologyCell biology
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#1Ana Griciuc (French Institute of Health and Medical Research)H-Index: 8
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The most common Rhodopsin (Rh) mutation associated with autosomal dominant retinitis pigmentosa (ADRP) in North America is the substitution of proline 23 by histidine (RhP23H). Unlike the wild-type Rh, mutant RhP23H exhibits folding defects and forms intracellular aggregates. The mechanisms responsible for the recognition and clearance of misfolded RhP23H and their relevance to photoreceptor neuron (PN) degeneration are poorly understood. Folding-deficient membrane proteins are subjected to Endo...
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