Results 81 to 90 of about 73,691 (271)

Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy

, 2011
Survival motor neuron (SMN) messenger RNA and protein levels in spinal muscular atrophy (SMA) model mice and in patients with SMA were measured. There was a high correlation between leukocyte and spinal cord SMN expression in SMA model mice and a ...
蔡力凱;楊智超;丁振紘;蘇怡寧;胡務亮;李鴻, TSAI, LI-KAI;YANG, CHIH-CHAO;TING, CHEN-HON;SU, YI-NING;HWU, WUH-LIANG;LI, HUNG   +1 more
core   +1 more source

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

FEBS Open Bio, EarlyView.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik, Russell Pickford, Hannah C. Timmins, Olivier Piguet, Glenda M. Halliday, Matthew C. Kiernan, Woojin Scott Kim   +6 more
wiley   +1 more source

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

, 2001
Background: Spinal muscular atrophy (SMA) results from mutations of the survival motor neuron (SMN) gene on chromosome 5. The SMN gene exists in two highly homologous copies, telomeric (SMN1) and centromeric (SMN2). SMA is caused by mutations in SMN1 but
Stulp, RP, Wokke, JHJ, Scheffer, H, Vogels, OJ, De Jong, JMBV, Cobben, JM, van den Berg, LH, Veldink, JH, Baas, F   +8 more
core   +2 more sources

Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction

Frontiers in Molecular Biosciences, 2017
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder that results from decreased levels of the survival motor neuron (SMN) protein. SMN is part of a multiprotein complex that also includes Gemins 2–8 and Unrip. The SMN-Gemins complex cooperates with
Maia Lanfranco, Maia Lanfranco, Maia Lanfranco, Neville Vassallo, Neville Vassallo, Ruben J. Cauchi, Ruben J. Cauchi   +6 more
doaj   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Chinese massage therapy (Tuina) inhibits motor neuron apoptosis in rats with sciatic nerve injury by regulating the cPLA2 and RhoA/ROCK2 signaling pathways

Frontiers in Neurology
ObjectiveTo investigate whether Tuina therapy alleviated inflammation and motor neuron apoptosis in sciatic nerve injury (SNI) rats by regulating cytosolic phospholipase A2 (cPLA2) and Ras homolog family member A/Rho-associated coiled-coil comprising ...
Jiawei Sun, Yingqi Zhang, Zhifeng Liu, Hanyu Zhang, Jiayue Liu, Yue Xu, Rentuya Na, Hongzheng Zhang, Jiawang Yan, Tianyuan Yu   +9 more
doaj   +1 more source

Splicing therapeutics in SMN2 and APOB

, 2009
Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR, Khoo, B., Krainer, A. R., Khoo, B   +3 more
core  

Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis

FEBS Open Bio, EarlyView.
Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho, Rebecca Schmitt, Aneesha Dasgupta, Alexandra Ducharme, Jason Doles   +4 more
wiley   +1 more source

Survival in the pre-senile dementia frontotemporal lobar degeneration with TDP-43 proteinopathy: effects of genetic, demographic and neuropathological variables

Folia Neuropathologica, 2016
Factors associated with survival were studied in 84 neuropathologically documented cases of the pre-senile dementia frontotemporal dementia lobar degeneration (FTLD) with transactive response (TAR) DNA-binding protein of 43 kDa (TDP-43) proteinopathy ...
Richard A. Armstrong
doaj   +1 more source

Acute caffeine treatment protects the developing retina from ischemia‐induced cell death

FEBS Open Bio, EarlyView.
Caffeine reduces cell death in the developing retina under ischemia (OGD). This effect does not involve BDNF upregulation or antioxidant pathways (NRF2/VEGF). Neuroprotection occurs mainly through adenosine A2A receptor antagonism, decreasing glutamate release and excitotoxicity, highlighting caffeine's potential as an acute neuroprotective agent in ...
Amanda Alves Nascimento, Danniel Pereira‐Figueiredo, Gabriella Grossi de Lima Dias, Gabriel Ferreira dos Santos, Mariana Rodrigues Pereira, Rafael Brito, Karin C Calaza   +6 more
wiley   +1 more source