Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX

Aberrant forms of endoplasmic reticulum (ER)-resident chaperones are implicated in loss of protein quality control in rare diseases. Here we report a novel mutation (p.Asp233Asn) in the ER retention signal of MESD by whole exome sequencing of an individual diagnosed with osteogenesis imperfecta (OI)...

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Vydáno v:Matrix Biol
Hlavní autoři: Ghosh, Debasish Kumar, Udupa, Prajna, Shrikondawar, Akshaykumar Nanaji, Bhavani, Gandham SriLakshmi, Shah, Hitesh, Ranjan, Akash, Girisha, Katta M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2023
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7615836/
https://ncbi.nlm.nih.gov/pubmed/36526215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.matbio.2022.12.001
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