Results 111 to 120 of about 166,041,693 (206)

Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities

Journal of Advanced Research
Introduction: The human plasma glycoproteome holds enormous potential to identify personalized biomarkers for diagnostics. Glycoproteomics has matured into a technology for plasma N-glycoproteome analysis but further evolution towards clinical ...
Hans J.C.T. Wessels, Purva Kulkarni, Maurice van Dael, Anouk Suppers, Esther Willems, Fokje Zijlstra, Else Kragt, Jolein Gloerich, Pierre-Olivier Schmit, Stuart Pengelley, Kristina Marx, Alain J. van Gool, Dirk J. Lefeber   +12 more
doaj   +1 more source

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, Volume 293, Issue 18, Page 5585-5599, September 2026.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Disorders of Glycosylation

The congenital disorders of glycosylation (CDG) comprise a large and growing family of genetic disorders, characterized by hypoglycosylation of multiple glycoconjugates.
Ng, Bobby G., Patterson, Marc C., Eklund, Erik Axel   +2 more
core   +1 more source

Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG)

, 2013
The visualization of Golgi glycosylation defects in patients' cells with Congenital Disorders of Glycosylation (CDG) is challenging and necessitates the use of cumbersome glycan analysis methods that are barely adapted to clinical research.
Vicogne, Dorothée, Matthijs, Gert, Vanbeselaere, Jorick, Foulquier, François, Biot, Christophe, Guerardel, Yann   +5 more
core   +1 more source

Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation [PDF]

, 2013
Glycosylation is the most common chemical process of protein modification and occurs in every living cell. Disturbances of this process may be either congenital or acquired. Congenital disorders of glycosylation (CDG) are a rapidly growing disease family,
Chrostek, Lech, Gruszewska, Ewa, Cylwik, Bogdan, Naklicki, Marcin   +3 more
core  

Chromatographic Measurement of Transferrin Glycoforms for Detecting Alcohol Abuse and Congenital Disorders of Glycosylation

, 2007
This chapter contains sections titled: Introduction Transferrin Microheterogeneity Carbohydrate‐deficient Transferrin (CDT) Congenital Disorders of Glycosylation (CDG) Analytical Methods for Transferrin Microheterogeneity Chromatographic Methods for CDT ...
Helander, A,
core   +1 more source

From hepatosplenomegaly to genetic diagnosis: A case of congenital disorder of glycosylation type IIb due to mannosyl-oligosaccharide glucosidase mutation

Journal of Integrative Medicine and Research
Congenital disorders of glycosylation (CDG) are rare metabolic conditions with heterogeneous presentations, often complicating diagnosis. We report a 5-year-old male born to consanguineous parents, presenting with a 2-year history of painless abdominal ...
Hari Nandan Reddy Golla, Srinivas Adari, Nirmal Kumar Mohakud, Swarnalata Das, Amit Ranjan Rup   +4 more
doaj   +1 more source

LCMS-based Validation of Glycosylation Variants in Transferrin – A Diagnostic Approach for Congenital Disorders of Glycosylation [PDF]

Congenital disorders of glycosylation (CDG) are rare genetic diseases caused by defects in the glycosylation pathways. Early and accurate diagnosis of congenital disorders of glycosylation (CDG) is crucial for timely initiating appropriate therapies ...
Hima Bindu Allareddy, Dr. Madhurarekha Ch, Kalpana D,Deekshitha Ch,Prof. Manjula Bhanoori*
core   +1 more source

Immunological aspects of congenital disorders of glycosylation (CDG): a review

, 2016
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases comprising more than 85 known distinct disorders. They show a great phenotypic variability ranging from multi-organ/system to mono-organ/system involvement with ...
Dos Reis Ferreira, Vanessa, Videira, Paula A, Monticelli, Maria, Ferro, Tiago, Jaeken, Jaak   +4 more
core   +1 more source

Congenital disorders of glycosylation syndromes [PDF]

Developmental Medicine & Child Neurology, 2002
openaire   +2 more sources