Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

P Fratta, P Sivakumar, J Humphrey, K Lo… - The EMBO …, 2018‏ - embopress.org
TDP‐43 (encoded by the gene TARDBP) is an RNA binding protein central to the
pathogenesis of amyotrophic lateral sclerosis (ALS). However, how TARDBP mutations …

[HTML][HTML] Chronic peripheral inflammation causes a region-specific myeloid response in the central nervous system

P Süß, A Hoffmann, T Rothe, Z Ouyang, W Baum… - Cell Reports, 2020‏ - cell.com
Systemic immune dysregulation contributes to the development of neuropsychiatric and
neurodegenerative diseases. The precise effect of chronic peripheral immune stimulation on …

Presynaptic homeostasis opposes disease progression in mouse models of ALS-like degeneration: evidence for homeostatic neuroprotection

BO Orr, AG Hauswirth, B Celona, RD Fetter, G Zunino… - Neuron, 2020‏ - cell.com
Progressive synapse loss is an inevitable and insidious part of age-related
neurodegenerative disease. Typically, synapse loss precedes symptoms of cognitive and …

Identification of the functions and prognostic values of RNA binding proteins in bladder cancer

Y Wu, Z Liu, X Wei, H Feng, B Hu, B Liu, Y Luan… - Frontiers in …, 2021‏ - frontiersin.org
Post-transcriptional regulation plays a leading role in gene regulation and RNA binding
proteins (RBPs) are the most important posttranscriptional regulatory protein. RBPs had …

The role of zinc supplementation on the metallothionein system in children with autism spectrum disorder

NA Meguid, G Bjørklund, OH Gebril, MD Doşa… - Acta Neurologica …, 2019‏ - Springer
The present research was carried out to elucidate the role of zinc (Zn) supplementation on
the plasma concentration and gene expression, as well as the effects on cognitive-motor …

Linking functions: an additional role for an intrinsically disordered linker domain in the transcriptional coactivator CBP

S Contreras-Martos, A Piai, S Kosol, M Varadi… - Scientific reports, 2017‏ - nature.com
The multi-domain transcriptional coactivators CBP/p300 integrate a multitude of signaling
inputs, interacting with more than 400 proteins via one or more of their globular domains …

Severe muscle wasting and denervation in mice lacking the RNA-binding protein ZFP106

DM Anderson, J Cannavino, H Li, KM Anderson… - Proceedings of the …, 2016‏ - pnas.org
Innervation of skeletal muscle by motor neurons occurs through the neuromuscular junction,
a cholinergic synapse essential for normal muscle growth and function. Defects in nerve …

Genome-wide association study for four measures of epigenetic age acceleration and two epigenetic surrogate markers using DNA methylation data from Taiwan …

WY Lin - Human molecular genetics, 2022‏ - academic.oup.com
To highlight the genetic architecture for epigenetic aging, McCartney et al. recently identified
137 significant single-nucleotide polymorphisms based on genome-wide association study …

[HTML][HTML] A diagnostic gene-expression signature in fibroblasts of amyotrophic lateral sclerosis

G Morello, V La Cognata, M Guarnaccia, V La Bella… - Cells, 2023‏ - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease with
limited treatment options. Diagnosis can be difficult due to the heterogeneity and non …