Revista de genética e investigación del ADN.

NGLY1 (N-glycanase 1) encodes an evolutionarily conserved enzyme that catalyzes the cleavage of N-glycans from glycoproteins. Mutations in human NGLY1 cause a rare congenital disorder with severe developmental delay, delayed bone age and osteopenia, gastrointestinal dysfunction, small hands/feet and absent tears. However, the mechanism by which NGLY1 deficiency causes the above-mentioned clinical phenotypes is not known, and neither has NGLY1 been linked to any major developmental signaling pathway. Here we show that Drosophila Pngl encodes an Nglycanase and exhibits a high degree of functional conservation with human NGLY1. Loss of Pngl results in developmental midgut defects reminiscent of midgut-specific loss of BMP signaling. Tissuespecific knock-down and rescue exp

The CH−π and OH−π interaction of aromatic residues of amyloid beta (Aβ) with GM1 oligosaccharide is concluded to be effective to keep Aβ peptides attached to the membrane surface and play an important role to initial stages of Alzheimer’s disease pathology. In this work, molecular dynamics (MD) simulations for Aβ42 were performed to investigate the behaviors of Aβ42 on GM1- ganglioside-containing lipid membrane. As far the computational model, the initial atom coordinate of Aβ42 were extracted from one of the conformations which had been determined by solution nuclear magnetic resonance (NMR) spectroscopy (PDB accession code: 1Z0Q/1IYT). A computational model for mixed membrane was composed of 48 monosialotetrahexosylganglioside (GM1), 96 sphingomyelin (SM), and 96 cholesterol(CHL).

Chitin is a glycan composed of 1, 4-linked N-acetyl-D-glucosamine that exist in cell wall of Saccharomyces cerevisiae (S. cerevisiae). One of the emerging fungal pathogens is S. cerevisiae, when host defenses are weakened. S. cerevisiae strains show a specific transcription pattern after human blood infection and sequencing of genomes in yeast and mammals that encode very similar proteins. They make systemic infection and even death in the worst scenarios. In this work, in silico approach to screening RNA with potential binding affinity to a desired Chs5 (Chitin localization protein agent) to block chitin transferred. Atom coordinate of Chs5 were extracted from one of the conformations which had been determined by solution nuclear magnetic resonance (NMR) spectroscopy (PDB accession code: 4WJW).

Prostate cancer (PCa) is the most commonly diagnosed cancer and second leading cause for men in the United States. The majority of prostate cancer (PCa) detected in the era of routine prostate-specific antigen (PSA) screening are indolent and pose little or no threat to the health or longevity of the patients. However, about 90% of men with localized PCa receive aggressive treatment that often causes significant morbidity. This clinical dilemma is largely attributed to the fact that clinical variables, such as Gleason Score (GS), PSA level, and tumor stage, cannot accurately predict aggressive from indolent diseases at diagnosis. It is imperative to find biomarkers that can augment clinical variables and improve risk stratification of PCa patients.

Pulmonary hypertension (PH) is a highly lethal and widespread lung disorder that is a common complication in chronic lung diseases such as chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF). Its presence in these chronic lung diseases is the single most significant predictor of mortality. While increased levels of hyaluronan have been observed in IPF patients, hyaluronan-mediated vascular remodeling and the hyaluronan-mediated mechanisms promoting PH associated with IPF are not fully understood.