Results 61 to 70 of about 166,041,693 (206)

Diseases of glycosylation beyond classical congenital disorders of glycosylation [PDF]

, 2012
BACKGROUND: Diseases of glycosylation are rare inherited disorders, which are often referred to as congenital disorders of glycosylation (CDG). Several types of CDG have been described in the last decades, encompassing defects of nucleotide-sugar ...
Hennet, Thierry, Thierry Hennet
core   +1 more source

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source

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   +3 more sources

Impact of Yeast Glycosylation Pathway on Cell Integrity and Morphology, Glycosylation, Stefana Petrescu (Ed.), ISBN: 978-953-51-0771-2, InTech, Available from: http://www.intechopen.com/books/glycosylation/impact-of-yeast-glycosylation-pathway-on-cell-integrity-and-morphology [PDF]

, 2012
Protein glycosylation is a multi step reaction, well conserved in the eukaryotic cells. In N-glycosylation reactions dolichyl phosphate (DolP) serves as a lipid acceptor of sugar residues forming DolPPGlcNAc2Man9Glc3.
Palamarczyk, Grazyna, Juchimiuk, Mateusz, Pasikowska, Monika, Janik, Anna, Orłowski, Jacek, Kruszewska, Joanna S.   +5 more
core   +1 more source

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis

Molecular Genetics and Metabolism Reports
Congenital disorders of glycosylation (CDG) are a group of rare metabolic disorders caused by the defects in the glycosylation pathways of biomacromolecules leading to altered glycoprofiles in affected individuals. In this case study, we present a 3-year-
Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Veronika Krajčovičová, Anna Šalingová, Katarína Skalická, Miriam Kolníková, Peter Baráth, Marek Nemčovič   +8 more
doaj   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

Developmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

Putative role of TMEM165 in congenital cardiomyopathies

Frontiers in Molecular Neuroscience
Within the significant worldwide causes of mortality and morbidity are congenital heart diseases. Congenital cardiomyopathies include conditions in which early diagnosis and care can improve survival and health.
Paula P. Gonçalves
doaj   +1 more source