N-glycosylation site occupancy in serum glycoproteins using multiple reaction monitoring liquid chromatography-mass spectrometry [PDF]
, 2007 Congenital disorders of glycosylation (CDGs) are a family of N-linked glycosylation defects associated with severe clinical manifestations. In CDG type-I, deficiency of lipid-linked oligosaccharide assembly leads to the underoccupancy of N-glycosylation ...
Hennet, T +2 more
core +1 more source
Uncovering regulatory pathways that affect hematopoietic stem cell function using 'genetical genomics' [PDF]
, 2005 We combined large-scale mRNA expression analysis and gene mapping to identify genes and loci that control hematopoietic stem cell (HSC) function. We measured mRNA expression levels in purified HSCs isolated from a panel of densely genotyped recombinant ...
A Scherer +24 more
core +2 more sources
Molecular Genetics & Genomic Medicine, 2021 Background Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.‐167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in homozygosity or ...
Sumaya Islam +9 more
doaj +1 more source
Platelet Membrane Glycoprofiling in a PMM2-CDG Patient
Journal of Inborn Errors of Metabolism and Screening, 2021 Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as ...
G.M. Papazoglu +9 more
doaj +1 more source
Pediatric Reports, 2022 Background: Hyperinsulinemic hypoglycemia (HH) is an important cause of persistent hypoglycemia in newborns and infants. Recently, PMM2 (phosphomannomutase 2) mutation has been associated with HH, especially in conjunction with polycystic kidney disease (
Ratna Acharya, Kiran Upadhyay
doaj +1 more source
Transcriptome analysis of Listeria monocytogenes exposed to biocide stress reveals a multi-system response involving cell wall synthesis, sugar uptake, and motility [PDF]
, 2014 peer-reviewedListeria monocytogenes is a virulent food-borne pathogen most often associated with the consumption of “ready-to-eat” foods. The organism is a common contaminant of food processing plants where it may persist for extended periods of time.
Aidan eCasey +6 more
core +4 more sources
The pathogen Moniliophthora perniciosa promotes differential proteomic modulation of cacao genotypes with contrasting resistance to witches´ broom disease [PDF]
, 2020 Background: Witches' broom disease (WBD) of cacao (Theobroma cacao L.), caused by Moniliophthora perniciosa, is the most important limiting factor for the cacao production in Brazil.
Correa, Stephany Cristiane +4 more
core +1 more source
An AciI polymorphism in the 3′ untranslated region of the human phosphomannomutase 2 (PMM2) gene [PDF]
Journal of Human Genetics, 1999 We found an AciI polymorphism in the 3' untranslated region of the phosphomannomutase 2 (PMM2) gene located at 16p13. A G-to-C transition at nucleotide position 96 bp downstream from the PMM2 stop codon was detected in polymerase chain reaction (PCR) products after AciI digestion.
K, Mizugishi +3 more
openaire +2 more sources
Anthropometric Phenotype of Patients with PMM2-CDG
Children, 2021 Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and ...
Patryk Lipiński +3 more
doaj +1 more source
Identification of cell-surface mannans in a virulent Helicobacter pylori strain [PDF]
, 2010 With the intent of contributing to a carbohydrate-based vaccine against the gastroduodenal pathogen, Helicobacter pylori, we report here the structure of cell-surface mannans obtained from a virulent strain.
Azevedo, N. F. +6 more
core +1 more source