Results 61 to 70 of about 25,010,716 (171)
Evidence for substrate assisted catalysis in N-acetylphosphoglucosamine mutase [PDF]
, 2018 11 pags, 4 figs, 2 tabs . -- Supplementary data is available at the Publisher's web pageN-acetylphosphoglucosamine mutase (AGM1) is a key component of the hexosamine biosynthetic pathway that produces UDP-GlcNAc, an essential precursor for a wide range ...
Baxter +36 more
core +4 more sources
Accessing the genomic information of unculturable oceanic picoeukaryotes by combining multiple single cells [PDF]
, 2017 Mangot, Jean-François et al.-- 12 pages, 7 figures, 2 tables, supplementary information https://dx.doi.org/10.1038/srep41498Pico-sized eukaryotes play key roles in the functioning of marine ecosystems, but we still have a limited knowledge on their ...
Latorre, Fran +4 more
core +1 more source
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
Orphanet Journal of Rare Diseases, 2021 A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients.
Peter Witters +8 more
doaj +1 more source
Transcriptional analysis of the innate immune response of ducks to different species-of-origin low pathogenic H7 avian influenza viruses [PDF]
, 2013 BACKGROUND: Wild waterfowl, including ducks, represent the classic reservoir for low pathogenicity avian influenza (LPAI) viruses and play a major role in the worldwide dissemination of AIV.
Brian S Ladman +6 more
core +1 more source
Oil degradation and biosurfactant production by the deep sea bacterium Dietzia maris As-13-3 [PDF]
, 2014 : Recent investigations of extreme environments have revealed numerous bioactive natural products. However, biosurfactant-producing strains from deep sea extreme environment are largely unknown. Here, we show that Dietzia maris As-13-3 isolated from deep
Bobo Cai, Wanpeng Wang, Zongze Shao
core +6 more sources
Phosphomannomutase deficiency (PMM2-CDG): Ataxia and cerebellar assessment [PDF]
, 2015 Background: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is ...
Artuch, R. +23 more
core +3 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