Results 21 to 30 of about 167,517,803 (126)

Prevention of Congenital Cytomegalovirus Infection: Review and Case Series of Valaciclovir versus Hyperimmune Globulin Therapy [PDF]

, 2023
Cytomegalovirus (CMV) is the most common cause of congenital infections in developed countries because is capable of infecting the fetus after both primary and recurrent maternal infection, and because the virus may be spread for years through infected ...
on behalf of the Congenital Cytomegalic Disease Collaborating Group, On Behalf Of The Congenital Cytomegalic Disease Collaborating Group, null, Nigro, Giovanni, Muselli, Mario, Giovanni Nigro, Mario Muselli   +5 more
core   +1 more source

Sugar coating autophagy: exploring the links between the inhibition of NGLY1 (N-glycanase 1) and autophagy induction

Autophagy Reports, 2023
The cytosolic enzyme NGLY1 (N-glycanase 1) is a central mediator of glycoprotein catabolism. The enzyme acts to cleave N-linked glycans from modified substrate asparagine residues prior to degradation of misfolded proteins by the proteasome, playing a ...
Holger B. R. Kramer, Sarah Ann Allman
doaj   +1 more source

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

Orphanet Journal of Rare Diseases, 2022
Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency patients reported
Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge   +8 more
doaj   +1 more source

Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency

Postepy biochemii, 2020
Together with the lysosomal storage diseases, N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including two of them from Poland. The pathogenesis remains unknown, however, the main role is attributed to the disturbed endoplasmic reticulum-associated protein degradation process.
Patryk, Lipiński, Anna, Tylki-Szymańska   +1 more
openaire   +2 more sources

Peptide: N-Glycanase 1 and Its Relationship with Congenital Disorder of Deglycosylation

, 2022
The cytosolic PNGase (peptide:N-glycanase; Png1 in yeast; NGLY1/Ngly1 in human/mice), also known as peptide-N4-(N-acetyl-beta-glucosaminyl)-asparagine ami-dase, is a well-conserved deglycosylation enzyme (EC 3.5.1.52) which catalyzes the non-lysosomal hydrolysis of an N(4)-(acetyl-β-D-glucosaminyl) asparagine residue into N-acetyl-β-D-
Xiangguang Miao, Jin Wu, Hongping Chen, Guanting Lu   +3 more
openaire   +1 more source

The N-glycan Glycoprotein Deglycosylation Complex (Gpd) from Capnocytophaga canimorsus Deglycosylates Human IgG [PDF]

, 2011
Author Summary Capnocytophaga canimorsus are Gram-negative bacteria from the normal oral flora of dogs and cats. They cause rare but severe infections in humans that have been bitten or simply licked by a dog or cat.
Suzette Moes, Paul Jenö, Cornelis, Guy R., Pablo Manfredi, Jenö, Paul, Manuela Mally, Guy R. Cornelis, Francesco Renzi, Guy R Cornelis, Renzi, Francesco, Mally, Manuela, Moes, Suzanne, Manfredi, Pablo   +12 more
core   +2 more sources

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2019–2020

Mass Spectrometry Reviews, Volume 42, Issue 5, Page 1984-2206, September/October 2023., 2023
Abstract This review is the tenth update of the original article published in 1999 on the application of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry to the analysis of carbohydrates and glycoconjugates and brings coverage of the literature to the end of 2020.
David J. Harvey
wiley   +1 more source

Intonation processing in congenital amusia: discrimination, identification and imitation [PDF]

, 2010
This study investigated whether congenital amusia, a neuro-developmental disorder of musical perception, also has implications for speech intonation processing.
Stewart, Lauren, Fourcin, Adrian, Stewart, L., Fourcin, A., Patel, A. D., Patel, Aniruddh D, Patel, Aniruddh, Liu, Fang, Fourcin, A, AD, Patel, Liu, F, Stewart, L; id_orcid   +11 more
core   +1 more source

Genetic disruption of mammalian endoplasmic reticulum‐associated protein degradation: Human phenotypes and animal and cellular disease models

Traffic, Volume 24, Issue 8, Page 312-333, August 2023., 2023
Degradation of unassembled, misfolded, and other defective proteins is mediated by a major quality control mechanism, named the endoplasmic reticulum‐associated protein degradation (ERAD). Throughout this manuscript, we present the various genetically manipulated higher cellular and mammalian animal models that were depleted for specific ERAD ...
Sally Badawi, Feda E. Mohamed, Divya Saro Varghese, Bassam R. Ali   +3 more
wiley   +1 more source

Simultaneous N-deglycosylation and digestion of complex samples on S-Traps enables efficient glycosite hypothesis generation [PDF]

, 2022
N-linked glycosylation is an important post-translational modification that is difficult to identify and quantify in traditional bottom-up proteomics experiments.
Chien-Wei, Wang, Rebecca, Whelan, Christine, DeRosa, Naviya, Schuster-Little, Simon, Weaver   +4 more
core   +2 more sources