Perspectives on glycosylation and its congenital disorders

BG Ng, HH Freeze - Trends in Genetics, 2018 - cell.com
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic
disorders that result from abnormal protein or lipid glycosylation. They are often difficult to …

[HTML][HTML] Genetic basis of limb-girdle muscular dystrophies: the 2014 update

V Nigro, M Savarese - Acta Myologica, 2014 - ncbi.nlm.nih.gov
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle
disorders, which first affect the voluntary muscles of the hip and shoulder areas. The …

Classification of domains in predicted structures of the human proteome

RD Schaeffer, J Zhang, LN Kinch… - Proceedings of the …, 2023 - National Acad Sciences
Recent advances in protein structure prediction have generated accurate structures of
previously uncharacterized human proteins. Identifying domains in these predicted …

[HTML][HTML] Diagnostic approach to the congenital muscular dystrophies

CG Bönnemann, CH Wang, S Quijano-Roy… - Neuromuscular …, 2014 - Elsevier
Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with
histological features suggesting a dystrophic process. The congenital muscular dystrophies …

[PDF][PDF] Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy

M Kanagawa, K Kobayashi, M Tajiri, H Manya, A Kuga… - Cell reports, 2016 - cell.com
Glycosylation is an essential post-translational modification that underlies many biological
processes and diseases. α-dystroglycan (α-DG) is a receptor for matrix and synaptic proteins …

[PDF][PDF] Solving glycosylation disorders: fundamental approaches reveal complicated pathways

HH Freeze, JX Chong, MJ Bamshad, BG Ng - The American Journal of …, 2014 - cell.com
Over 100 human genetic disorders result from mutations in glycosylation-related genes. In
2013, a new glycosylation disorder was reported every 17 days. This trend will probably …

Neurological aspects of human glycosylation disorders

HH Freeze, EA Eklund, BG Ng… - Annual review of …, 2015 - annualreviews.org
This review presents principles of glycosylation, describes the relevant glycosylation
pathways and their related disorders, and highlights some of the neurological aspects and …

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

LT Jae, M Raaben, M Riemersma, E Van Beusekom… - Science, 2013 - science.org
Glycosylated α-dystroglycan (α-DG) serves as cellular entry receptor for multiple pathogens,
and defects in its glycosylation cause hereditary Walker-Warburg syndrome (WWS). At least …

Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane

T Yoshida-Moriguchi, KP Campbell - Glycobiology, 2015 - academic.oup.com
Associations between cells and the basement membrane are critical for a variety of
biological events including cell proliferation, cell migration, cell differentiation and the …

Developmental biology of the meninges

K Dasgupta, J Jeong - Genesis, 2019 - Wiley Online Library
The meninges are membranous layers surrounding the central nervous system. In the head,
the meninges lie between the brain and the skull, and interact closely with both during …