[HTML][HTML] O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations
A Zhang, SJ Berardinelli, C Leonhard-Melief… - Journal of Biological …, 2020 - ASBMB
ADAMTSL2 mutations cause an autosomal recessive connective tissue disorder,
geleophysic dysplasia 1 (GPHYSD1), which is characterized by short stature, small hands
and feet, and cardiac defects. ADAMTSL2 is a matricellular protein previously shown to
interact with latent transforming growth factor-β binding protein 1 and influence assembly of
fibrillin 1 microfibrils. ADAMTSL2 contains seven thrombospondin type-1 repeats (TSRs), six
of which contain the consensus sequence for O-fucosylation by protein O-fucosyltransferase …
geleophysic dysplasia 1 (GPHYSD1), which is characterized by short stature, small hands
and feet, and cardiac defects. ADAMTSL2 is a matricellular protein previously shown to
interact with latent transforming growth factor-β binding protein 1 and influence assembly of
fibrillin 1 microfibrils. ADAMTSL2 contains seven thrombospondin type-1 repeats (TSRs), six
of which contain the consensus sequence for O-fucosylation by protein O-fucosyltransferase …