Results 91 to 100 of about 15,085,302 (278)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Congenital protein hypoglycosylation diseases

The Application of Clinical Genetics, 2012
Susan E SparksDepartment of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC, USA; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USAAbstract: Glycosylation is an ...
Sparks SE
doaj  

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

3D Bioprinted Glioblastoma Multiforme Models: How the Extracellular Matrix Glycosignature Influences Drug Response

Advanced Functional Materials, EarlyView.
Aberrant glycosylation in the glioblastoma tumor microenvironment drives therapeutic resistance. Here, a 3D bioprinted model was engineered by incorporating α‐NeuNAc‐(2→3)‐β‐D‐Gal‐ and chondroitin sulfate. Combined multiplex immunofluorescence and synchrotron‐based nanoCT analysis revealed that glycan‐matrix interactions dictate specific drug‐escape ...
Francesca Cadamuro, Marco Piazzoni, Ilaria Borghi, Alberto Baeri, Alessandro Fumagalli, Federica Perillo, Hafiz Muhammad Fahad, Martina Ghizzi, Luca Crippa, Gabriella Nicolini, Angela Bentivegna, Daniele Ramazzotti, Valentina Zuliani, Mirko Rivara, Carlo Giorgio Giussani, Andrea Di Cristofori, Guido Cavaletti, Federica Facciotti, Sobhan Sheikhi, Claire Seydoux, Murielle Salome, Peter Cloetens, Alberto Bravin, Paola Coan, Francesco Nicotra, Laura Russo   +25 more
wiley   +1 more source

Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation [PDF]

The American Journal of Human Genetics, 2008
N-linked glycosylation is an essential posttranslational modification of proteins in eukaryotes. The substrate of N-linked glycosylation, dolichol pyrophosphate (DolPP)-GlcNAc(2)Man(9)Glc(3), is assembled through a complex series of ordered reactions requiring the translocation of the intermediate DolPP-GlcNAc(2)Man(5) structure across the endoplasmic ...
Haeuptle, M A, Pujol, F M, Neupert, C, Winchester, B, Kastaniotis, A J, Aebi, M, Hennet, T   +6 more
openaire   +4 more sources

How is Nanoarchitectonics Shaping Extracellular Vesicle Research?

Advanced Healthcare Materials, EarlyView.
The convergence of nanoarchitectonics and extracellular vesicle biology is reshaping next‐generation nanomedicine by enabling rationally designed nanostructures for enhanced EVs detection, engineering, and therapy. ABSTRACT Extracellular vesicles (EVs) have gained recognition as crucial mediators of cell‐to‐cell communication, holding immense potential
Madushani Dahanayake, Md Shahriar A. Hossain, Chia‐Hung Liu, Carlos Salomon, Yusuke Yamauchi, Mostafa Kamal Masud   +5 more
wiley   +1 more source

Influenza virus N-linked glycosylation and innate immunity

Bioscience Reports, 2019
AbstractInfluenza viruses cause seasonal epidemics and sporadic pandemics in humans. The virus’s ability to change its antigenic nature through mutation and recombination, and the difficulty in developing highly effective universal vaccines against it, make it a serious global public health challenge.
Ian A. York, James Stevens, Irina V. Alymova   +2 more
openaire   +2 more sources

Functional Divergence in the Role of N-Linked Glycosylation in Smoothened Signaling [PDF]

PLOS Genetics, 2015
The G protein-coupled receptor (GPCR) Smoothened (Smo) is the requisite signal transducer of the evolutionarily conserved Hedgehog (Hh) pathway. Although aspects of Smo signaling are conserved from Drosophila to vertebrates, significant differences have evolved.
Marada, Suresh, Navarro, Gemma, Truong, Ashley, Stewart, Daniel P., Arensdorf, Angela M., Nachtergaele, Sigrid, Angelats, Edgar, Opferman, Joseph T., Rohatgi, Rajat, McCormick, Peter J., Ogden, Stacey K.   +10 more
openaire   +6 more sources

UDP‐Glucose‐6‐Dehydrogenase Mediated O‐GlcNAcylation of Tight Junction Protein 1 Suppresses Metastasis in Renal Cell Carcinoma

Advanced Science, EarlyView.
Our research unveiled a regulatory paradigm wherein TRIM25 orchestrates the ubiquitin‐mediated degradation of UGDH. UGDH modulates the protein stability of TJP1 by regulating O‐GlcNAcylation levels, effectively impeding the metastasis of ccRCC. Our insights elevate UGDH to a pivotal biomarker and tumor suppressor, marking the first demonstration that ...
Xiaolin Chen, Yuhang Bao, Tao Liu, Jianhui Qiu, Yuanyuan Ma, Zedan Zhang, Chuandong Wang, Ruiyi Deng, Zheng Song, Tianyi He, Haode Liu, Jingcheng Zhou, Yizhou Wang, Kan Gong   +13 more
wiley   +1 more source

N-linked glycosylation of β-amyloid precursor protein

Biochemical and Biophysical Research Communications, 1992
The beta-amyloid peptide that accumulates in the brain of patients with Alzheimer's disease is derived by proteolytic processing of a family of membrane bound beta-amyloid precursor proteins (beta APPs). The three major isoforms of beta APP, derived by alternative splicing, contain 695, 751, and 770 amino acids.
P, Påhlsson, S H, Shakin-Eshleman, S L, Spitalnik   +2 more
openaire   +2 more sources