Keratan sulfate, a complex glycosaminoglycan with unique functional capability

B Caterson, J Melrose - Glycobiology, 2018 - academic.oup.com
From an evolutionary perspective keratan sulfate (KS) is the newest glycosaminoglycan
(GAG) but the least understood. KS is a sophisticated molecule with a diverse structure, and …

The IC3D classification of the corneal dystrophies

JS Weiss, HU Møller, W Lisch, S Kinoshita, AJ Aldave… - Cornea, 2008 - journals.lww.com
Background: The recent availability of genetic analyses has demonstrated the shortcomings
of the current phenotypic method of corneal dystrophy classification. Abnormalities in …

Keratan sulfate biosynthesis

JL Funderburgh - IUBMB life, 2002 - Wiley Online Library
Keratan sulfate was originally identified as the major glycosaminoglycan of cornea but is
now known to modify at least a dozen different proteins in a wide variety of tissues. Despite a …

Distribution and function of glycosaminoglycans and proteoglycans in the development, homeostasis and pathology of the ocular surface

S Puri, YM Coulson-Thomas, TF Gesteira… - Frontiers in cell and …, 2020 - frontiersin.org
The ocular surface, which forms the interface between the eye and the external environment,
includes the cornea, corneoscleral limbus, the conjunctiva and the accessory glands that …

[PDF][PDF] The molecular genetics of the corneal dystrophies--current status

GK Klintworth - Front Biosci, 2003 - article.imrpress.com
[Frontiers in Bioscience 8, d687-713, May 1, 2003] 687 THE MOLECULAR GENETICS OF THE
CORNEAL DYSTROPHIES – CURRENT STATUS Gord Page 1 [Frontiers in Bioscience 8 …

[HTML][HTML] Glycosylation diseases: quo vadis?

H Schachter, HH Freeze - Biochimica et Biophysica Acta (BBA)-Molecular …, 2009 - Elsevier
About 250 to 500 glycogenes (genes that are directly involved in glycan metabolism) are in
the human genome representing about 1–2% of the total genome. Over 40 human …

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 …

Genetics and pathophysiology of mammalian sulfate biology

R Langford, E Hurrion, PA Dawson - Journal of Genetics and Genomics, 2017 - Elsevier
Nutrient sulfate is essential for numerous physiological functions in mammalian growth and
development. Accordingly, disruptions to any of the molecular processes that maintain the …

Matrix morphogenesis in cornea is mediated by the modification of keratan sulfate by GlcNAc 6-O-sulfotransferase

Y Hayashida, TO Akama, N Beecher… - Proceedings of the …, 2006 - National Acad Sciences
Matrix assembly and homeostasis in collagen-rich tissues are mediated by interactions with
proteoglycans (PGs) substituted with sulfated glycosaminoglycans (GAGs). The major GAG …

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa

MM Abd El-Aziz, CA O'Driscoll, RS Kaye… - … & visual science, 2010 - iovs.arvojournals.org
Purpose.: Recently, a novel gene was cloned for autosomal recessive retinitis pigmentosa
(arRP), EYS, on 6q12. This study was conducted to determine the spectrum and frequency …