Results 61 to 70 of about 1,603 (150)

Defeitos congénitos da glicosilação [PDF]

, 2022
Congenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but
Bandeira, Anabela, Correia, Joana, Martins, Esmeralda, Mendes, Ana Raquel, Paiva Coelho, Margarida, Quelhas, D   +5 more
core   +1 more source

Staphylococcus aureus Extracellular Vesicles Enhance PslE‐Mediated Pathogenesis in Pseudomonas aeruginosa

MicrobiologyOpen, Volume 15, Issue 1, February 2026.
PslE is essential for the ability of S. aureus‐derived extracellular vesicles to enhance P. aeruginosa pathogenicity. ABSTRACT Coinfection of Pseudomonas aeruginosa (P. aeruginosa) and Staphylococcus aureus (S. aureus) is frequently observed. Our previous study demonstrated that S. aureus‐derived extracellular vesicles (SaEVs) promote P.
Phawinee Subsomwong, Rojana Sukchawalit, Naoko Watabe, Akio Nakane, Krisana Asano   +4 more
wiley   +1 more source

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg [PDF]

, 2017
In the endoplasmic reticulum (ER) of eukaryotes, N-linked glycans are first assembled on the lipid carrier dolichyl pyrophosphate. The GlcNAc2Man9Glc3 oligosaccharide is transferred to selected asparagine residues of nascent polypeptides.
Aebi, Markus, Berger, Eric G., Frank, Christian G., Grubenmann, Claudia E., Hennet, Thierry, Kjaergaard, Susanne   +5 more
core  

Identification of genomic regions associated with partial resistance to Aphanomyces root rot in pea

The Plant Genome, Volume 18, Issue 4, December 2025.
Abstract Root rot caused by Aphanomyces euteiches is a major concern in pea (Pisum sativum L.). The lack of other effective control strategies makes crucial the development of resistant varieties. Although partial resistance has been reported, its quantitative inheritance, the association of resistance‐linked genomic regions with unfavorable agronomic ...
Sara Rodriguez‐Mena, Maria Carlota Vaz Patto, Susana Trindade Leitão, Diego Rubiales, Mario González   +4 more
wiley   +1 more source

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik [PDF]

, 2017
Defects of N-linked glycosylation represent diseases with multiple organ involvements that are classified as congenital disorders of glycosylation (CDG).
Aebi, Markus, Berger, Eric G., Frank, Christian G., Grubenmann, Claudia E., Hennet, Thierry, Hülsmeier, Andreas J., Matthijs, Gert, Mayatepek, Ertan, Schollen, Els   +8 more
core  

Bacterial lipid II analogs : novel in vitro substrates for mammalian oligosaccharyl diphosphodolichol diphosphatase (DLODP) activities [PDF]

, 2019
Mammalian protein N-glycosylation requires the transfer of an oligosaccharide containing 2 residues of N-acetylglucosamine, 9 residues of mannose and 3 residues of glucose (Glc3Man9 GlcNAc2) from Glc3Man9GlcNAc2-diphospho (PP)-dolichol (DLO) onto ...
Bosco, Michael, Bouhss, Ahmed, Busca, Patricia, Chantret, Isabelle, Dowson, Christopher G., Gravier-Pelletier, Christine, Jamal, Layla, Léger, Thibaut, Massarweh, Ahmad, Moore, Stuart E. H., Roper, David I.   +10 more
core   +4 more sources

Unveiling Host Interactions and Evolutionary Constraints of a Novel Bacteriophage Infecting Xanthomonas hortorum pv. vitians

Environmental Microbiology Reports, Volume 17, Issue 6, December 2025.
A transposon insertion sequencing approach revealed that the novel phage ΦXhv‐1 targets Xanthomonas hortorum pv. vitians through LPS O‐antigen recognition. Mutations in LPS conferring phage resistance reduce bacterial motility and virulence, highlighting a trade‐off that may naturally constrain resistance development and support the sustainable phage ...
Anaelle Baud, Lucas Morinière, Imane El Idrissi, Fernando Clavijo‐Coppens, Elise Lacroix, Nicolas Taveau, Denis Costechareyre, Franck Bertolla   +7 more
wiley   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, Volume 108, Issue 6, Page 731-741, December 2025.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

A comprehensive update of genotype–phenotype correlations in PMM2-CDG: insights from molecular and structural analyses

Orphanet Journal of Rare Diseases
PMM2-CDG (phosphomannomutase 2-deficiency) is the most prevalent N-glycosylation disorder and results from impairments of PMM2 activity. This disease presents a large variety of pathogenic variants, which cause a wide phenotypical spectrum.
Tiago Oliveira, Ricardo Ferraz, Luísa Azevedo, Dulce Quelhas, João Carneiro, Jaak Jaeken, Sérgio F. Sousa   +6 more
doaj   +1 more source

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP : possible implications for the disease PMM2-CDG [PDF]

, 2017
The most frequent disorder of glycosylation, PMM2-CDG, is caused by a deficiency of phosphomannomutase activity. In humans two paralogous enzymes exist, both of them require mannose 1,6-bis-phosphate or glucose 1,6-bis-phosphate as activators, but only ...
C. Cimmaruta, G. Andreotti, G. Viscido, L. Liguori, M.V. Cubellis, V. Citro   +5 more
core   +1 more source