Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes. [PDF]
Paternal uniparental disomy of chromosome 6 (UPD6pat) is associated with transient neonatal diabetes mellitus and multisystem developmental anomalies, but the mechanisms underlying its phenotypic variability remain unclear. This study integrates amniotic fluid cfRNA transcriptome analysis and molecular diagnostics, identifying 372 differentially ...
Yu J +6 more
europepmc +2 more sources
Rescue of Glycosylphosphatidylinositol-Anchored Protein Biosynthesis Using Synthetic Glycosylphosphatidylinositol Oligosaccharides [PDF]
The attachment of proteins to the cell membrane using a glycosylphosphatidylinositol (GPI) anchor is a ubiquitous process in eukaryotic cells. Deficiencies in the biosynthesis of GPIs and the concomitant production of GPI-anchored proteins lead to a series of rare and complicated disorders associated with inherited GPI deficiencies (IGDs) in humans ...
Paula A. Guerrero +5 more
openaire +3 more sources
Trypanosome Glycosylphosphatidylinositol Biosynthesis [PDF]
Trypanosoma brucei, a protozoan parasite, causes sleeping sickness in humans and Nagana disease in domestic animals in central Africa. The trypanosome surface is extensively covered by glycosylphosphatidylinositol (GPI)-anchored proteins known as variant surface glycoproteins and procyclins.
Yeonchul, Hong, Taroh, Kinoshita
openaire +2 more sources
Probing Enzymes Late in the Trypanosomal Glycosylphosphatidylinositol Biosynthetic Pathway with Synthetic Glycosylphosphatidylinositol Analogues [PDF]
Glycosylphosphatidylinositol (GPI)-anchored proteins are abundant in the protozoan parasite Trypanosoma brucei, the causative agent of African sleeping sickness in humans and the related disease Nagana in cattle, and disruption of GPI biosynthesis is genetically and chemically validated as a drug target.
Urbaniak, Michael D. +4 more
openaire +4 more sources
Endocytosis of glycosylphosphatidylinositol-anchored proteins [PDF]
Abstract Glycosylphosphatidylinositol-anchored proteins (GPI-APs) represent an interesting amalgamation of the three basic kinds of cellular macromolecules viz. proteins, carbohydrates and lipids. An unusually hybrid moiety, the GPI-anchor is expressed in a diverse range of organisms from parasites to mammalian cells and serves to anchor a ...
Sabharanjak Shefali +2 more
openaire +3 more sources
Semisynthesis of Functional Glycosylphosphatidylinositol‐Anchored Proteins [PDF]
AbstractGlypiation is a common posttranslational modification of eukaryotic proteins involving the attachment of a glycosylphosphatidylinositol (GPI) glycolipid. GPIs contain a conserved phosphoglycan that is modified in a cell‐ and tissue‐specific manner.
Renée F. Roller +8 more
openaire +4 more sources
In normal (nontolerant) cells, CD14 is crucial for both LPS uptake and LPS signaling. In LPS‐tolerant cells, in which LPS‐induced TNF‐α and IFN‐β production is suppressed, there is a dramatic increase in surface CD14 expression. The overexpressed CD14 in LPS‐tolerant cells is responsible for the enhanced LPS uptake without inducing pro‐inflammatory ...
Saeka Nishihara +3 more
wiley +1 more source
The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley +1 more source
Chemical Synthesis of Glycosylphosphatidylinositol Anchors [PDF]
Many eukaryotic cell-surface proteins and glycoproteins are anchored to the plasma membrane by glycosylphosphatidylinositols (GPIs), a family of glycolipids that are post-translationally attached to proteins at their C-termini. GPIs and GPI-anchored proteins play important roles in many biological and pathological events, such as cell recognition and ...
Benjamin M, Swarts, Zhongwu, Guo
openaire +2 more sources
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source

