Results 91 to 100 of about 1,300 (164)

D‐Mannose Alleviates Type 2 Diabetes and Rescues Multi‐Organ Deteriorations by Controlling Release of Pathological Extracellular Vesicles

Exploration, Volume 5, Issue 5, October 2025.
In this study, Zhang and colleagues show that drinking‐water supplementation of D‐mannose serves as an effective and potential therapeutic of type 2 diabetes, with improvement of both liver health and bone mass. The effect is exerted through suppressing macrophage release of extracellular vesicles based on metabolic control of CD36 expression.
Sha Zhang, Kai Zhang, Chen‐Xi Zheng, Ying‐Feng Gao, Guo‐Rong Deng, Xu Zhang, Yuan Yuan, Ting Jia, Si‐Yuan Tang, Guang‐Xiang He, Zhen Gong, Na Zhao, Bo Ma, Hua Tian, Hong Zhang, Zhe Li, Yong‐Chang Di‐Wu, Yi‐Han Liu, Liang Kong, Jing Ma, Yan Jin, Bing‐Dong Sui   +21 more
wiley   +1 more source

Immunological aspects of glycosylation: from aberrant to defective glycosylation [PDF]

, 2017
Glycosylation is crucial in many biological processes, like cell recognition, signaling and development. Many diseases present altered glycosylation and two extremes are cancer and congenital disorders of glycosylation (CDG), with aberrant and defective ...
Pascoal, Carlota Moutinho
core  

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease [PDF]

, 2022
The most common cause of human congenital disorders of glycosylation (CDG) are mutations in the phosphomannomutase gene PMM2, which affect protein N-linked glycosylation. The yeast gene SEC53 encodes a homolog of human PMM2. We evolved 384 populations of
Allocca M., Andreotti G., Lang G. I., Monticelli M., Norris J. W., Perlstein E. O., Steet R., Vignogna R. C.   +7 more
core   +1 more source

Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model

Disease Models & Mechanisms, 2016
Congenital disorders of glycosylation (CDGs) constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins.
William M. Parkinson, Michelle Dookwah, Mary Lynn Dear, Cheryl L. Gatto, Kazuhiro Aoki, Michael Tiemeyer, Kendal Broadie   +6 more
doaj   +1 more source

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada   +2 more
wiley   +1 more source

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Identification of Compound Heterozygous DPM1 Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie

Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.
Congenital disorders of glycosylation (CDG) constitute a group of rare genetic metabolic diseases caused by defects in the synthesis and modification of oligosaccharides. CDG‐Ie is a rare subtype caused by mutations in the DPM1 gene. We describe a female patient who presented with ocular abnormalities, motor retardation, hypotonia, hepatic dysfunction,
Wei Song, Wenzhi Zhou, Liu Yang, Li Tang, Nur Arslan   +4 more
wiley   +1 more source

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

JA Clinical Reports, 2017
Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage   +3 more
doaj   +1 more source

A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers

Human Mutation, Volume 2025, Issue 1, 2025.
SLC35A1‐CDG is a very rare type of congenital disorders of glycosylation (CDG) with only five cases known to date. Here, we review the literature and present new data from a sixth patient carrying the uncharacterized variant c.133A>G; p.Thr45Ala in the SLC35A1 gene.
Kristina Falkenstein, Lukas Hoeren, Frauke Kikul, Gernot Poschet, Christian Lüchtenborg, Ines B. Brecht, Ruth Falb, Darja Gauck, Tobias Haack, Andreas Hecker, Nastassja Himmelreich, Jürgen G. Okun, Britta Brügger, Christian Thiel, Aziz ur Rehman. Aziz   +14 more
wiley   +1 more source

Insights Into the Pathological Glycosylation Associated With COG6‐CDG

Human Mutation, Volume 2025, Issue 1, 2025.
Background and Aims Congenital disorders of glycosylation (CDG) are rare diseases caused by defects in protein glycosylation. We present an infant with multisystemic clinical involvement, diagnosed with COG6‐CDG. Methods Serum and transferrin‐linked N‐glycans, as well as serum and apolipoprotein CIII–linked O‐glycans, were analyzed by MALDI mass ...
Zuzana Pakanová, Maroš Krchňák, Marek Nemčovič, Rebeka Kodríková, Nina Ondrušková, Hana Štufková, Mária Giertlová, Katarína Okáľová, Paula Stretavská, Slavomíra Martineková, Renáta Zemjarová Mezenská, Michaela Urminská, Martina Škopková, Andrea Andrésová, Miroslava Lysinová, Lenka Belujská, Anna Šalingová, Gábor Beke, Lucia Račková, Tomáš Honzík, Hana Hansíková, Peter Baráth, Priya Gusain   +22 more
wiley   +1 more source