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- W2793283600 abstract "Inherited point mutations in collagen II in humans affecting mainly cartilage are broadly classified as chondrodysplasias. Most mutations occur in the glycine (Gly) of the Gly-X-Y repeats leading to destabilization of the triple helix. Arginine to cysteine substitutions that occur at either the X or Y position within the Gly-X-Y cause different phenotypes like Stickler syndrome and congenital spondyloepiphyseal dysplasia (SEDC). We investigated the consequences of arginine to cysteine substitutions (X or Y position within the Gly-X-Y) towards the N and C terminus of the triple helix. Protein expression and its secretion trafficking were analyzed. Substitutions R75C, R134C and R704C did not alter the thermal stability with respect to wild type; R740C and R789C proteins displayed significantly reduced melting temperatures (Tm) affecting thermal stability. Additionally, R740C and R789C were susceptible to proteases; in cell culture, R789C protein was further cleaved by matrix metalloproteinases (MMPs) resulting in expression of only a truncated fragment affecting its secretion and intracellular retention. Retention of misfolded R740C and R789C proteins triggered an ER stress response leading to apoptosis of the expressing cells. Arginine to cysteine mutations towards the C-terminus of the triple helix had a deleterious effect, whereas mutations towards the N-terminus of the triple helix (R75C and R134C) and R704C had less impact." @default.
- W2793283600 created "2018-03-29" @default.
- W2793283600 creator A5049839584 @default.
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- W2793283600 date "2018-02-11" @default.
- W2793283600 modified "2023-09-26" @default.
- W2793283600 title "Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival" @default.
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- W2793283600 doi "https://doi.org/10.3390/ijms19020541" @default.
- W2793283600 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5855763" @default.
- W2793283600 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29439465" @default.
- W2793283600 hasPublicationYear "2018" @default.
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