B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.

doi:10.1172/jci.insight.179474

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Article

B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.

JCI insight - 22 Aug 2025

Diana Roméo Milan, Jolivet Benjamin, Vincourt Jean-Baptiste, Hergalant Sébastien, Francius Grégory, Karami Yasaman, Khakzad Hamed, Wild Rebekka, Bourgeais Marie, Robert Anne, Wurtz Alison, Barreto Guillermo, Ramalanjaona Nick, Helle Déborah, Onifarasoaniaina Rachel, Front Sophie, Lopin-Bon Chrystel, Syx Delfien, Malfait Fransiska, Fournel-Gigleux Sylvie, Gulberti Sandrine, Bui Catherine

Abstract excerpt

Ehlers-Danlos syndromes (EDS) comprise a genetically and clinically heterogenous group of rare diseases that cause severe, often fatal, damage to connective tissue. The molecular basis of EDS implicates defects in extracellular matrix components, including various fibrillar collagens and glycosaminoglycans (GAGs). However, the precise pathogenic mechanisms behind EDS remain elusive. Here, we have implemented a...

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Topics

Ehlers-Danlos Syndrome
Humans
Galactosyltransferases
Connective Tissue

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Glycosylation

Extracellular Matrix

Biomechanical Phenomena

Male

Female

Glycosaminoglycans

Collagen

Source

Open in PubMed Open full text

Identifiers

PMID: 40857410
DOI: 10.1172/jci.insight.179474
PMCID: PMC12406734

Genes

B3GALT6

Provenance

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