Results 41 to 50 of about 2,059 (132)

Identification of Compound Heterozygous DPM1 Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie

open access: yesCase Reports in Pediatrics, Volume 2025, Issue 1, 2025.
Congenital disorders of glycosylation (CDG) constitute a group of rare genetic metabolic diseases caused by defects in the synthesis and modification of oligosaccharides. CDG‐Ie is a rare subtype caused by mutations in the DPM1 gene. We describe a female patient who presented with ocular abnormalities, motor retardation, hypotonia, hepatic dysfunction,
Wei Song   +4 more
wiley   +1 more source

Interferon Stimulated Gene Expression Is a Biomarker for Primary Mitochondrial Disease

open access: yesAnnals of Neurology, Volume 96, Issue 6, Page 1185-1200, December 2024.
Objective Mitochondria are implicated in regulation of the innate immune response. We hypothesized that abnormalities in interferon signaling may contribute to pathophysiology in patients with primary mitochondrial disease (PMD). Methods Expression of interferon stimulated genes (ISGs) was measured by real‐time polymerase chain reaction (PCR) in whole ...
Nandaki Keshavan   +3 more
wiley   +1 more source

Synthetic Cell Surface Receptors for Delivery of Therapeutics and Probes [PDF]

open access: yes, 2012
Receptor-mediated endocytosis is a highly efficient mechanism for cellular uptake of membrane-impermeant ligands. Cells use this process to acquire nutrients, initiate signal transduction, promote development, regulate neurotransmission, and maintain ...
Hymel, David, Peterson, Blake R.
core   +1 more source

Clinical glycoproteomics: methods and diseases

open access: yesMedComm, Volume 5, Issue 10, October 2024.
An overview of clinical glycoproteomics: methods and diseases. The primary types of glycosylations include N‐glycosylation and O‐glycosylation. Three main glycoproteomic strategies are employed, with the bottom‐up approach being the most commonly utilized.
Yujia Wang   +3 more
wiley   +1 more source

Bifidobacterium longum BL‐19 inhibits oxidative stress and inflammatory damage in the liver of mice with NAFLD by regulating the production of butyrate in the intestine

open access: yesFood Science &Nutrition, Volume 12, Issue 9, Page 6442-6460, September 2024.
Bifidobacterium longum BL‐19 shows promise as an adjunct therapy for NAFLD, as it can significantly improve oxidative stress, reduce inflammation in the liver, and decrease lipid accumulation. Furthermore, B. longum BL‐19 enhances the production of butyric acid in the mouse gut.
Xiajun Zhang   +8 more
wiley   +1 more source

ARF1 is directly involved in dynamin-independent endocytosis [PDF]

open access: yes, 2008
Endocytosis of glycosylphosphatidyl inositol (GPI)-anchored proteins (GPI-APs) and the fluid phase takes place primarily through a dynamin- and clathrin-independent, Cdc42-regulated pinocytic mechanism.
Kumari, Sudha, Mayor, Satyajit
core   +1 more source

Purification and Analysis of Folate-dye Conjugate [PDF]

open access: yes, 2010
The folate receptor has achieved great importance for use in targeted drug delivery and in vitro and in vivo diagnostic assays. The folate receptor (FR) is over-expressed on several cancer cell types and activated macrophages, but exists in relatively ...
Sakhiya, Dilipkumar
core   +1 more source

Active emulsions in living cell membranes driven by contractile stresses and transbilayer coupling

open access: yes, 2022
The spatiotemporal organisation of proteins and lipids on the cell surface has direct functional consequences for signaling, sorting and endocytosis. Earlier studies have shown that multiple types of membrane proteins including transmembrane proteins ...
Anilkumar, Anupama Ambika   +6 more
core  

Cholesterol-sensitive Cdc42 activation regulates actin polymerization for endocytosis via the GEEC pathway [PDF]

open access: yes, 2007
Glycosyl-phosphatidylinositol (GPI)-anchored proteins (GPI-APs) are present at the surface of living cells in cholesterol dependent nanoscale clusters. These clusters appear to act as sorting signals for the selective endocytosis of GPI-APs via a Cdc42 ...
Chadda, Rahul   +5 more
core   +1 more source

Folate-PEG-Histidine for Use in Detection, Capture, and Analysis of FR+ Cells [PDF]

open access: yes, 2016
Folate receptor alpha is a membrane-bound protein displaying high affinity for folic acid. This receptor serves as a receptor-mediated transport system of folic acid into cancer and cells associated with inflammation (e.g., macrophages).
Dwyer, Sean
core   +1 more source

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