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 …

[HTML][HTML] 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 …

Genome-wide definition of selective sweeps reveals molecular evidence of trait-driven domestication among elite goat (Capra species) breeds for the production of …

B Zhang, L Chang, X Lan, N Asif, F Guan, D Fu… - …, 2018 - academic.oup.com
Background The domestication of wild goats and subsequent intensive trait-driven crossing,
inbreeding, and selection have led to dramatic phenotypic purification and intermediate …

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2019–2020

DJ Harvey - Mass spectrometry reviews, 2023 - Wiley Online Library
This review is the tenth update of the original article published in 1999 on the application of
matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry to the analysis of …

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

A Ashikov, N Abu Bakar, XY Wen… - Human molecular …, 2018 - academic.oup.com
Genomics methodologies have significantly improved elucidation of Mendelian disorders.
The combination with high-throughput functional–omics technologies potentiates the …

[HTML][HTML] Biosynthesis of GlcNAc-rich N-and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3

B Szulc, P Sosicka, D Maszczak-Seneczko… - Journal of Biological …, 2020 - ASBMB
Nucleotide sugar transporters, encoded by the SLC35 gene family, deliver nucleotide
sugars throughout the cell for various glycosyltransferase-catalyzed glycosylation reactions …

Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases

JE Powel, CE Sham, M Spiliopoulos… - Clinical …, 2022 - Wiley Online Library
Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation
during embryogenesis that may be associated with additional abnormalities. A systematic …

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of …

A Bruneel, S Cholet, V Drouin‐Garraud… - …, 2018 - Wiley Online Library
Congenital disorders of glycosylation (CDG) are rare autosomal genetic diseases affecting
the glycosylation of proteins and lipids. Since CDG‐related clinical symptoms are classically …

[HTML][HTML] Mice lacking nucleotide sugar transporter SLC35A3 exhibit lethal chondrodysplasia with vertebral anomalies and impaired glycosaminoglycan biosynthesis

S Saito, S Mizumoto, T Yonekura, R Yamashita… - Plos one, 2023 - journals.plos.org
SLC35A3 is considered an uridine diphosphate N-acetylglucosamine (UDP-GlcNAc)
transporter in mammals and regulates the branching of N-glycans. A missense mutation in …

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies

W Haouari, J Dubail, S Lounis‐Ouaras… - Journal of Inherited …, 2020 - Wiley Online Library
Bikunin (Bkn) isoforms are serum chondroitin sulfate (CS) proteoglycans synthesized by the
liver. They include two light forms, that is, the Bkn core protein and the Bkn linked to the CS …