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Cerebellum (London, England)|February 23, 2021
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)Fabio Pettinato, Giovanni Mostile, Roberta Battini, et al.
Plos Genetics|December 19, 2013
MAN1B1 deficiency: an unexpected CDG-IIDaisy Rymen, Romain Peanne, María B Millón, et al.
Angewandte Chemie (International Ed. in English)|February 1, 2021
Lipopolysaccharide from Gut-Associated Lymphoid-Tissue-Resident Alcaligenes faecalis: Complete Structure Determination and Chemical Synthesis of Its Lipid AAtsushi Shimoyama, Flaviana Di Lorenzo, Haruki Yamaura, et al.
Frontiers in Immunology|December 5, 2015
Structural Relationship of the Lipid A Acyl Groups to Activation of Murine Toll-Like Receptor 4 by Lipopolysaccharides from Pathogenic Strains of Burkholderia mallei, Acinetobacter baumannii, and Pseudomonas aeruginosaKirill V Korneev, Nikolay P Arbatsky, Antonio Molinaro, et al.
Annals of Neurology|October 31, 2012
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyRita Barone, Chiara Aiello, Valérie Race, et al.
Biorxiv : the Preprint Server for Biology|May 7, 2024
Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteinsTianMeng Xu, Rachel Heon-Roberts, Travis Moore, et al.
Nature Communications|October 31, 2014
Covalently linked hopanoid-lipid A improves outer-membrane resistance of a Bradyrhizobium symbiont of legumesAlba Silipo, Giuseppe Vitiello, Djamel Gully, et al.
The Journal of Clinical Investigation|June 20, 2025
Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylationTianMeng Xu, Rachel Heon-Roberts, Travis Moore, et al.
Biorxiv : the Preprint Server for Biology|September 2, 2025
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathyAfitz Da Silva, Samuel Boris Tene Tadoum, Irena J J Muffels, et al.
Science Advances|June 30, 2023
<i>N</i>-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and functionAfitz Da Silva, Junio Dort, Zakaria Orfi, et al.
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