Results 81 to 90 of about 1,366 (180)
Data Science, 2022 Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here a formalization of that claim, stating that all things of class “NGLY1 deficiency” that are in the context of a thing ...
Núria Queralt-Rosinach
doaj +1 more source
Coupled deglycosylation-ubiquitination cascade in regulating PD-1 degradation by MDM2
Cell Reports, 2023 Summary: Posttranslational modifications represent a key step in modulating programmed death-1 (PD-1) functions, but the underlying mechanisms remain incompletely defined. Here, we report crosstalk between deglycosylation and ubiquitination in regulating
Zhen Wu +11 more
doaj +1 more source
Clinical application of exome sequencing in undiagnosed genetic conditions [PDF]
, 2012 BACKGROUND: There is considerable interest in the use of next-generation sequencing to help diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a clinical setting that includes patients with a broad range of ...
Goldstein, David B +7 more
core +2 more sources
Antigen presentation of post‐translationally modified peptides in major histocompatibility complexes
Immunology &Cell Biology, Volume 103, Issue 2, Page 161-177, February 2025.T cells recognize pathogens and malignantly transformed cells through antigen presentation on major histocompatibility complex molecules. Post‐translational modifications (PTMs) of proteins can alter the peptides presented, influencing immune recognition and disease.
Alexine S de Wit +2 more
wiley +1 more source
Cancer Medicine, Volume 14, Issue 1, January 2025.We report differential molecular mechanisms including pathways, key modules, and hub genes, induced by combination of oxaliplatin (L‐OHP) and PRIMA‐1met (APR‐246, eprenetapopt) in p53‐wild type vs. p53‐mutant colorectal cancer. Our in vivo studies show that the additional of PRIMA‐1met offers a threefold advantage: enhanced therapeutic effects, reduced
Xiao‐lan Li +7 more
wiley +1 more source
, 2022 Full Fall 2022 issue of the Pandion Journal, volume 3, issue ...
Research, Office of Undergraduate
core +1 more source
Genetic counseling for congenital disorders of glycosylation (CDG)
Journal of Genetic Counseling, Volume 33, Issue 6, Page 1358-1364, December 2024.Abstract Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel +2 more
wiley +1 more source
Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts
PROTEOMICS, Volume 24, Issue 15, August 2024.Abstract Asparagine‐linked glycosylation 1 protein is a β‐1,4‐mannosyltransferase, is encoded by the ALG1 gene, which catalyzes the first step of mannosylation in N‐glycosylation. Pathogenic variants in ALG1 cause a rare autosomal recessive disorder termed as ALG1‐CDG.
Rohit Budhraja +5 more
wiley +1 more source
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm
JIMD Reports, 2020 Objectives Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1‐CDDG). Since the first report in 2012, 26 patients have been described. All but one were diagnosed by exome or genome sequencing;
Patryk Lipiński +4 more
doaj +1 more source
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing [PDF]
, 2019 SUPPLEMENTARY MATERIAL accompanies this paper athttp://links.lww.com/CTG/A114OBJECTIVES: Serrated polyposis syndrome (SPS) is a complex disorder with a high risk of colorectal cancer for which the germline factors remain largely unknown.
Arnau Collell, Coral +18 more
core +4 more sources