Observations of dystrophic epidermolysis bullosa patients with collagen VII NC2 truncation provide new insights into anchoring fibril assembly

2026-03-03

PRE

Neha S. Momin

Işın Sinem Bağcı

John A. Dolorito

Sara F. Tufa

Pragya Tripathi

Kunju J. Sridhar

Douglas R. Keene

M. Peter Marinkovich *

DOI：10.1016/j.matbio.2026.03.001

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• Two DEB patients with NC2 domain truncations demonstrated partially assembled AFs. • Lateral association of collagen VII into banded AFs occurred despite absence of anti-parallel dimer formation. • Findings suggest anti-parallel dimer formation and lateral association are independent steps in AFs assembly. • AF looping is essential for dermal–epidermal cohesion, as its absence correlates with a generalized blistering phenotype.

Keywords:

collagen VII

anchoring fibrils

DEB patients

NC2 domain

AF assembly

Observations of dystrophic epidermolysis bullosa patients with collagen VII NC2 truncation provide new insights into anchoring fibril assembly

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