Results 51 to 60 of about 11,049 (200)

Sugary Logistics Gone Wrong:Membrane Trafficking and Congenital Disorders of Glycosylation [PDF]

, 2020
Glycosylation is an important post-translational modification for both intracellular and secreted proteins. For glycosylation to occur, cargo must be transported after synthesis through the different compartments of the Golgi apparatus where distinct ...
Bogaart, G. van den, Lefeber, D.J., Peters, Ella, Dirk J. Lefeber, Geert van den Bogaart, Lefeber, Dirk J., Beest, M.B.A. ter, Peter T. A. Linders, van den Bogaart, Geert; id_orcid, Ella Peters, ter Beest, Martin, Linders, P.T.A., Linders, Peter T. A., van den Bogaart, Geert, Martin ter Beest   +14 more
core   +1 more source

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Orphanet Journal of Rare Diseases, 2021
Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska   +6 more
doaj   +1 more source

Malectin Alleviates Endoplasmic Reticulum Stress in Gestational Diabetes Mellitus via Glycoprotein Quality Control Mechanisms

Advanced Science, EarlyView.
Malectin alleviates high glucose‐induced ER stress and damage in placental trophoblasts, a function dependent on its six critical carbohydrate‐binding residues. In a GDM mouse model, administration of TAT‐Malectin ameliorated hyperglycemia and placental ER stress and prevented fetal macrosomia.
Jiahui Zhu, Yumeng Zhang, Ye Wang, Xiaoyu Zhu, Ailin Yuan, Weijing Yin, Huangmin Yu, Xuemin Pang, Yufeng He, Yuchen Wang, Tong Wang, Yong Li, Yunlong Si   +12 more
wiley   +1 more source

Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation [PDF]

, 2023
Congenital disorders of glycosylation are a group of rare related disorders causing multisystem dysfunction, including ovarian failure in females that requires early estrogen replacement.
Boucher, Alexander A.,, Miller, Bradley S.,, Lund University., Eklund, Erik A.,   +3 more
core   +3 more sources

SSR4 sustains Tertiary Lymphoid Structures by Regulation Quality Control of N‐linked Glycosylation During B‐cell Differentiation Into Plasmacyte in Colorectal Cancer

Advanced Science, EarlyView.
SSR4, a TRAP component induced in B cells, governs BAFFR N‐glycosylation via DDOST to sustain NF‐κB signaling, B‐cell differentiation, and TLS maturation. Its loss impairs anti‐tumor immunity, while overexpression improves antibody glycosylation and ADCC, revealing a critical regulator for cancer immunotherapy.
Wei Zhao, Youcai Zhao, Haiyang Li, Bowen Yang, Siyan Lu, Xueting Fu, Caixia Zhang, Yirong Chen, Xiaofeng Bian, Xinghua Ma, Xiaobing Yang, Bin Wang, Yuan Fang, Lulu Yang, Yelin Zhao, Shuli Zhao   +15 more
wiley   +1 more source

MAN1B1-CDG: Three new individuals and associated biochemical profiles

Molecular Genetics and Metabolism Reports, 2021
Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders.
Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel   +14 more
doaj   +1 more source

Targeting GALNT7 Disrupts the TAZ O‐GalNAcylation Feedback Loop to Suppress Gallbladder Cancer Progression

Advanced Science, EarlyView.
Aberrant GALNT7‐mediated O‐GalNAcylation stabilizes TAZ to drive gallbladder cancer progression through a feed‐forward transcriptional loop. Structure‐based screening identifies Olaparib as a potent GALNT7 antagonist that disrupts this oncogenic axis, providing an immediate therapeutic strategy for this aggressive malignancy.
Peng Qiu, Ming Zhang, Yunxiang Feng, Yibo Deng, Kai Zhao, Xiangyu Li, Yun Lu, Li Tian, Tao Yang, Wei Yao, Jianming Wang, Zhengdong Deng   +11 more
wiley   +1 more source

Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan [PDF]

, 2010
The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies.
Godfrey, C.
core  

N- and O-glycan analysis for the detection of glycosylation disorders

Egyptian Journal of Medical Human Genetics, 2021
Background Congenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids.
Amr Sobhi Gouda, Azza Fahmy Elbaz, Thierry Dupré, Ola Sayed Mohamed Ali, Maha Saad Zaki, Ekram Maher Fateen   +5 more
doaj   +1 more source

PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

JIMD Reports, 2023
The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins.
Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J. Schultz, Suzanne W. Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K. Grange   +7 more
doaj   +1 more source