Results 171 to 180 of about 375,320 (335)

Quantitative Profiling of Nanoscopic Protein Aggregates Reveals Specific Fingerprint of TDP‐43‐Positive Assemblies in Motor Neuron Disease

open access: yesAdvanced Science, EarlyView.
Single‐molecule fluorescence microscopy is combined with proteomic profiling to fingerprint the morphology and composition of TDP‐43 protein aggregates found in post‐mortem motor neuron disease brain tissues. Aggregate fingerprints can distinguish disease from control donors and detect unexpected TDP‐43 pathology in SOD1‐MND.
Dezerae Cox   +9 more
wiley   +1 more source

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

open access: yesGenome Medicine
Background RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative.
Carolina Jaramillo Oquendo   +8 more
doaj   +1 more source

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

open access: yesAdvanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer   +18 more
wiley   +1 more source

BLOC1S1 Attenuates B. Melitensis 16M LPS‐Triggered Autophagy by Spatial Confinement of TDP‐43

open access: yesAdvanced Science, EarlyView.
This study explores how B. melitensis 16M LPS and BLOC1S1 regulate autophagy in goat spermatogonial stem cells. The 16M LPS is activating AMPK‐dependent autophagy, increasing LC3B‐II/I ratios and lysosomal genes, while Escherichia coli LPS shows no effect.
Shicheng Wan   +13 more
wiley   +1 more source

U1 RNA-protein complex preferentially binds to both 5' and 3' splice junction sequences in RNA or single-stranded DNA.

open access: green, 1984
Kazuaki Tatei   +6 more
openalex   +1 more source

Gene Editing of a Susceptibility LncRNA Enhances Broad‐Spectrum Disease Resistance in Rice without Developmental Trade‐Offs

open access: yesAdvanced Science, EarlyView.
Editing susceptibility lncRNAs offers a strategy to enhance disease resistance without yield loss. RESIS, a domestication‐acquired, pathogen‐induced lncRNA, promotes protein N‐terminal acetylation through its interaction with NatA complex. Knockout of RESIS increases translation and confers broad‐spectrum resistance to both fungal and bacterial ...
Wen‐long Zhao   +17 more
wiley   +1 more source

Elevated Apolipoprotein E Expression in Hippocampal Microglia Drives Temporal Lobe Epilepsy Progression

open access: yesAdvanced Science, EarlyView.
In temporal lobe epilepsy, hippocampal APOE is markedly upregulated predominantly in microglia. APOE overexpression in microglia drives TLR4 and cGAS/STING‐dependent neuroinflammation, engages bidirectional crosstalk with neurons and astrocytes, increases neuronal excitability, and perturbs hippocampal lipid metabolism. These findings suggest that APOE‐
Jianwei Shi   +10 more
wiley   +1 more source

Home - About - Disclaimer - Privacy