Results 101 to 110 of about 17,093 (242)

CLN3p Impacts Galactosylceramide Transport, Raft Morphology, and Lipid Content [PDF]

Pediatric Research, 2008
Juvenile neuronal ceroid lipofuscinosis (JNCL) belongs to the neuronal ceroid lipofuscinoses characterized by blindness/seizures/motor/cognitive decline and early death. JNCL is caused by CLN3 gene mutations that negatively modulate cell growth/apoptosis.
Elena, Rusyn, Talal, Mousallem, Dixie-Ann, Persaud-Sawin, Sara, Miller, Rose-Mary N, Boustany   +4 more
openaire   +2 more sources

The Major Role of Type 2 Inflammation in Asthma: From the Perspective of Immunological Mechanism

BioMed Research International, Volume 2026, Issue 1, 2026.
Asthma is a heterogeneous disease that affects individuals of diverse age groups globally and exhibits variable responses to different treatments. Type 2 inflammation contributes to the pathogenesis of asthma through the production of cytokines IL‐4, IL‐5, and IL‐13, thereby inducing characteristic features of asthma such as elevated eosinophil levels ...
Lanying Cheng, Lihong Sun, Baisakhi Banerjee   +2 more
wiley   +1 more source

Biological Roles Played by Sphingolipids in Dimorphic and Filamentous Fungi

mBio, 2018
Filamentous and dimorphic fungi cause invasive mycoses associated with high mortality rates. Among the fungal determinants involved in the establishment of infection, glycosphingolipids (GSLs) have gained increased interest in the last few decades.
Caroline Mota Fernandes, Gustavo H. Goldman, Maurizio Del Poeta   +2 more
doaj   +1 more source

Bidirectional Causal Effect Between Gut Microbiota and Glioma Risk: A Systematic Review‐Based Mendelian Randomization and Immune‐Mediated Effect Analysis

Cancer Innovation, Volume 4, Issue 6, December 2025.
Through Mendelian randomization analysis, the study confirmed a causal relationship between the gut microbiota and the risk of glioma. The most significant finding was that circulating immune cells play a central mediating role in this “gut–brain connection.” This result not only deepens our understanding of the pathogenesis of glioma but also provides
Jiachen Wang, Yilin Zhang, Zhuang Kang, Shenglan Li, Rong Zhang, Mengqian Huang, Chengzhuo Wang, Yuxiang Fan, Xinrui Liu, Yuxiao Chen, Tingrui Han, Yuji Wang, Wenbin Li   +12 more
wiley   +1 more source

Recent progress in the synthesis of six-membered aminocyclitols (2008-2017) [PDF]

, 2018
Aminocyclitols are of interest as glucosidase inhibitors, as probes for the study of pseudoglycosyltransferases, and as potential therapeutics for the treatment of Gaucher’s disease.
Donaldson, William
core   +1 more source

A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease [PDF]

, 2017
Galactosylceramidase (GALC) is the lysosomal β-galactosidase responsible for the hydrolysis of galactosylceramide. Inherited deficiency in GALC causes Krabbe disease, a devastating neurological disorder characterized by accumulation of galactosylceramide
Aerts, Johannes M F G, Biela-Banas, Anna, Boot, Rolf G., Cachón‐González, M. Begoña, Cox, Timothy M., Florea, Bogdan I., Herrera Moro, Daniela, Kallemeijn, Wouter W., Kim, Nee Na, Marques, André R. A., Martin, Olivier R., Nelson, Jessica K., Ottenhoff, Roelof, Overkleeft, Herman S., Scheij, Saskia, van Roomen, Cindy P.A.A., Verhoek, Marri, Willems, Lianne I.   +17 more
core   +1 more source

Toll-like Receptor agonists and alpha-galactosylceramide synergistically enhance the production of interferon-gamma in murine splenocytes

Scientific Reports, 2013
Vα14 natural killer T (iNKT) cells activated by alpha-galactosylceramide (GalCer) secrete a large amount of cytokines. Toll-like receptors (TLRs) play a critical role in the innate immune responses via the recognition of pathological antigen.
T. Ando, Hiroyasu Ito, H. Ohtaki, M. Seishima   +3 more
semanticscholar   +1 more source

Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 12, December 2025.
This study presents a comprehensive analysis of the genetic and clinical spectrum of Krabbe disease in a Chinese cohort, with a particular focus on adult‐onset cases. We identified 11 GALC variants, including the novel mutation p.P340L, and provided functional evidence supporting its pathogenicity through impaired protein processing, mislocalization ...
Yi Zhang, Hui‐Fen Huang, Juan‐Juan Xie, Wang Ni, Hao Yu, Zhi‐Ying Wu   +5 more
wiley   +1 more source

Galactokinase 1 is the source of elevated galactose‐1‐phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia

JIMD Reports
Classic galactosemia (CG) arises from loss‐of‐function mutations in the Galt gene, which codes for the enzyme galactose‐1‐phosphate uridylyltransferase (GALT), a central component in galactose metabolism.
Linley Mangini, Roger Lawrence, Manuel E. Lopez, Timothy C. Graham, Christopher R. Bauer, Hang Nguyen, Cheng Su, John Ramphal, Brett E. Crawford, Tom A. Hartl   +9 more
doaj   +1 more source

The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance

Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.
Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis, Vishwanath V. Prabhu, Bruce D. Carter   +2 more
wiley   +1 more source