Brecht Guillemyn

TL;DR: These findings expand the clinical and molecular spectrum of metabolic cutis laxa syndromes and further link defective extracellular matrix assembly to faulty protein processing and cellular trafficking caused by genetic defects in the V-ATPase complex.

TL;DR: It is shown that BMP1/mTLD‐deficiency in humans not only results in delayed cleavage of the type I procollagen C‐propeptide but also hampers the processing of the small leucine‐rich proteoglycan prodecorin, a regulator of collagen fibrillogenesis.

TL;DR: The phenotype associated with B3GALT6 mutations is redefined on the basis of clinical, molecular and biochemical data in 12 patients, and an in‐depth assessment of &bgr;3GalT6 activity and GAG synthesis to better understand this rare condition.

TL;DR: It is demonstrated that TAPT1 mutations underlie a complex congenital syndrome, showing clinical overlap between lethal skeletal dysplasias and ciliopathies, and Knockdown of tapt1b in zebrafish induces severe craniofacial cartilage malformations and delayed ossification, which is shown to be associated with aberrant differentiation of cranial neural crest cells.

TL;DR: The first homozygous pathogenic missense variant is identified in a patient with lethal OI, which is located within the highly conserved basic leucine zipper domain, four amino acids upstream of the DNA binding domain, and affects a critical residue in this functional domain, thereby decreasing the type I collagen transcriptional binding ability.