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Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the PLOD2 Gene.

International journal of molecular sciences - 13 Dec 2024

Bolshakova Olga I, Latypova Evgenia M, Komissarov Artem E, Slobodina Alexandra D, Ryabova Elena V, Varfolomeeva Elena Yu, Agranovich Olga E, Batkin Sergey F, Sarantseva Svetlana V

Abstract excerpt

Bruck syndrome is a rare autosomal recessive disorder characterized by increased bone fragility and joint contractures similar to those in arthrogryposis and is known to be associated with mutations in the FKBP10 (FKBP prolyl isomerase 10) and PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2) genes. These genes encode endoplasmic reticulum proteins that play an important role in the biosynthesis of type I...

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PMID: 39769143
DOI: 10.3390/ijms252413379

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Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the PLOD2 Gene.PMID 39769143Read ↗

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