Proteoglycans and neuronal migration in the cerebral cortex during development and disease

N Maeda - Frontiers in neuroscience, 2015 - frontiersin.org
Chondroitin sulfate proteoglycans and heparan sulfate proteoglycans are major constituents
of the extracellular matrix and the cell surface in the brain. Proteoglycans bind with many …

Proteoglycans in brain development and pathogenesis

NB Schwartz, MS Domowicz - FEBS letters, 2018 - Wiley Online Library
Proteoglycans are diverse, complex extracellular/cell surface macromolecules composed of
a central core protein with covalently linked glycosaminoglycan (GAG) chains; both of these …

GGC repeat expansion and exon 1 methylation of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome

AJ LaCroix, D Stabley, R Sahraoui, MP Adam… - The American Journal of …, 2019 - cell.com
Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by
short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by …

Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis

J Wen, J Xiao, M Rahdar… - Proceedings of the …, 2014 - National Acad Sciences
Most eukaryotic cells elaborate several proteoglycans critical for transmitting biochemical
signals into and between cells. However, the regulation of proteoglycan biosynthesis is not …

XYLT1 mutations in Desbuquois dysplasia type 2

C Bui, C Huber, B Tuysuz, Y Alanay… - The American Journal of …, 2014 - cell.com
Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint
laxity, and advanced carpal ossification. Based on the presence of additional hand …

Advances in repeat expansion diseases and a new concept of repeat motif–phenotype correlation

H Ishiura, S Tsuji - Current Opinion in Genetics & Development, 2020 - Elsevier
Recently repeat expansions have been found in more than 10 diseases in the past two
years. Because the same repeat motifs are found in similar disease (as exemplified by …

Advances in skeletal dysplasia genetics

KA Geister, SA Camper - Annual review of genomics and …, 2015 - annualreviews.org
Skeletal dysplasias result from disruptions in normal skeletal growth and development and
are a major contributor to severe short stature. They occur in approximately 1/5,000 births …

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects

CF Munns, S Fahiminiya, N Poudel… - The American Journal of …, 2015 - cell.com
Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in
cellular and tissue homeostasis including growth factor function, morphogen gradient …

Congenital disorders of deficiency in glycosaminoglycan biosynthesis

S Mizumoto, S Yamada - Frontiers in genetics, 2021 - frontiersin.org
Glycosaminoglycans (GAGs) including chondroitin sulfate, dermatan sulfate, and heparan
sulfate are covalently attached to specific core proteins to form proteoglycans, which are …

Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view

C Paganini, R Costantini, A Superti‐Furga… - The FEBS …, 2019 - Wiley Online Library
Glycosaminoglycans (GAG s) are a heterogeneous family of linear polysaccharides that
constitute the carbohydrate moiety covalently attached to the protein core of proteoglycans …