Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the
synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have …

Proteoglycans are among the most abundant and structurally complex biomacromolecules
and play critical roles in connective tissues. They are composed of a core protein onto which …

Proteoglycans are important components of cell plasma membranes and extracellular
matrices of connective tissues. They consist of glycosaminoglycan chains attached to a core …

Proteoglycans (PGs) are a major component of the extracellular matrix in many tissues and
function as structural and regulatory molecules. PGs are composed of core proteins and …

The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders,
characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous …

Abstract β4GalT7 is a transmembrane Golgi enzyme, encoded by B4GALT7, that plays a
pivotal role in the proteoglycan linker region formation during proteoglycan biosynthesis …

Proteoglycans have a core polypeptide connected to glycosaminoglycans (GAGs) via a
common tetrasaccharide linker region. Defects in enzymes that synthesize the linker result in …

Variations in genes encoding for the enzymes responsible for synthesizing the linker region
of proteoglycans may result in recessive conditions known as “linkeropathies”. The two …

Abstract B4GALT7 encodes beta-1, 4-galactosyltransferase which links glycosaminoglycans
to proteoglycans in connective tissues. Rare, biallelic variants in B4GALT7 have been …

Al‐Gazali syndrome encompasses several clinical features including prenatal growth
retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small …