Results 81 to 90 of about 4,129 (176)

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

Journal of Medical Case Reports, 2018
Background Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs ...
Ruo-hao Wu, Dong-fang Li, Wen-ting Tang, Kun-yin Qiu, Yu Li, Xiong-yu Liao, Dan-xia Tang, Li-jun Qin, Bing-qing Deng, Xiang-yang Luo   +9 more
doaj   +1 more source

PMM2‐CDG caused by uniparental disomy: Case report and literature review

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins.
Laurien Vaes, George E. Tiller, Belén Pérez, Suzanne W. Boyer, Susan A. Berry, Kyriakie Sarafoglou, Eva Morava   +6 more
doaj   +1 more source

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters [PDF]

, 2014
We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia.
Beales, PL, Garcia, P, Hennekam, RC, Moore, GE, Pais, RP, Paiva, C, Ramos, F, Saraiva, JM, Sousa, SB   +8 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

Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
The metabolite Glucose-1,6-bisphosphate (Glc-1,6-P2) plays a vital role in human metabolism, and is a crucial activator and stabilizer for phosphomannomutase-2 (PMM2) - mutations within this protein propagate the most common congenital disorder of glycosylation (PMM2-CDG).
Monticelli, Maria, Paris, Debora, Monti, Maria Chiara, Morretta, Elva, Pakanova, Zuzana, Nemcovic, Marek, Kodrikova, Rebeka, Cubellis, Maria Vittoria, Andreotti, Giuseppina   +8 more
openaire   +3 more sources

Biosynthesis of GDP-fucose and other sugar nucleotides in the blood-stages of Plasmodium falciparum [PDF]

, 2013
Carbohydrate structures play important roles in many biological processes, including cell adhesion, cell-cell communication, and host-pathogen interactions. Sugar nucleotides are activated forms of sugars used by the cell as donors for most glycosylation
Bandini, Giulia, Bernabeu, Maria, Fernández Becerra, Carmen, Izquierdo, Luis, Mariño, Karina Valeria, Ospina, Diego, Sanz, Silvia   +6 more
core   +2 more sources

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

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

Frontiers in Pediatrics, 2021
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark.
Mercedes Serrano, Mercedes Serrano
doaj   +1 more source

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

Well-known surface and extracellular antigens of pathogenic microorganisms among the immunodominant proteins of the infectious microalgae Prototheca zopfii [PDF]

, 2015
Microalgae of the genus Prototheca (P.) are associated with rare but severe infections (protothecosis) and represent a potential zoonotic risk. Genotype (GT) 2 of P.
Azab, Walid, Irrgang, Alexandra, Murugaiyan, Jayaseelan, Roesler, Uwe, Weise, Christoph   +4 more
core   +2 more sources