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Article

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

Matrix biology : journal of the International Society for Matrix Biology - 1 Jan 2023

Ghosh Debasish Kumar, Udupa Prajna, Shrikondawar Akshaykumar Nanaji, Bhavani Gandham SriLakshmi, Shah Hitesh, Ranjan Akash, Girisha Katta M

Abstract excerpt

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) type XX. While MESDD233N has similar stability and chaperone activity as wild-type MESD, its mislocalization to...

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Identifiers

PMID: 36526215
DOI: 10.1016/j.matbio.2022.12.001
PMCID: PMC7615836

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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