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Condition: Ataxia
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Total 40 results found since Jan 2013.

TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2
AbstractSpinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease, which belongs to the trinucleotide repeat disease group with a CAG repeat expansion in exon 1 of theATXN2 gene resulting in an ataxin-2 protein with an expanded polyglutamine (polyQ)-stretch. The disease is late manifesting leading to early death. Today, therapeutic interventions to cure the disease or even to decelerate disease progression are not available yet. Furthermore, primary readout parameter for disease progression and therapeutic intervention studies are limited. Thus, there is an urgent need for quantifi...
Source: Molecular Neurobiology - April 22, 2023 Category: Neurology Source Type: research

Reduction of fetuin-A levels contributes to impairment of Purkinje cells in cerebella of patients with Parkinson's disease
In conclusion, morphological abnormalities of Purkinje cells in PD mice and patients have a close relationship with a decrease of fetuin-A, suggesting that diagnosis and treatment of cerebellar functions of PD patients might be possible through regulation of fetuin-A.PMID:36935573
Source: BMB Reports - March 20, 2023 Category: Biochemistry Authors: Sunmi Yoon Napissara Boonpraman Chae Young Kim Jong-Seok Moon Sun Shin Yi Source Type: research

Chronic suppression of STIM1-mediated calcium signaling in Purkinje cells rescues the cerebellar pathology in spinocerebellar ataxia type 2
Biochim Biophys Acta Mol Cell Res. 2023 Mar 18:119466. doi: 10.1016/j.bbamcr.2023.119466. Online ahead of print.ABSTRACTDistorted neuronal calcium signaling has been reported in many neurodegenerative disorders, including different types of spinocerebellar ataxias (SCAs). Cerebellar Purkinje cells (PCs) are primarily affected in SCAs and the disturbances in the calcium homeostasis were observed in SCA PCs. Our previous results have revealed that 3,5-dihydroxyphenylglycine (DHPG) induced greater calcium responses in SCA2-58Q PC cultures than in wild type (WT) PC cultures. Here we observed that glutamate-induced calcium rele...
Source: Biochimica et Biophysica Acta - March 20, 2023 Category: Biochemistry Authors: Polina A Egorova Ksenia S Marinina Ilya B Bezprozvanny Source Type: research

Cigarette smoking is a secondary cause of folliculin loss
Conclusions Our study demonstrates that CS exposure is a secondary cause of FLCN deficiency due to the enhanced proteolysis, which promoted airway epithelial cell death.
Source: Thorax - March 15, 2023 Category: Respiratory Medicine Authors: Li, X., Lai, Y., Lane, Z., Strollo, H., Tanimura, K., Sembrat, J. C., Zou, C., Myerburg, M. M., Rojas, M., Shapiro, S., Jiang, Y., Nyunoya, T. Tags: Open access, Thorax Smoking Source Type: research

TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2
Mol Neurobiol. 2023 Mar 9. doi: 10.1007/s12035-023-03294-y. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease, which belongs to the trinucleotide repeat disease group with a CAG repeat expansion in exon 1 of the ATXN2 gene resulting in an ataxin-2 protein with an expanded polyglutamine (polyQ)-stretch. The disease is late manifesting leading to early death. Today, therapeutic interventions to cure the disease or even to decelerate disease progression are not available yet. Furthermore, primary readout parameter for disease progression and thera...
Source: Molecular Medicine - March 9, 2023 Category: Molecular Biology Authors: Jessica Bux Nesli Ece Sen Isa-Maria Klink Stefan Hauser Matthis Synofzik Ludger Sch öls Georg Auburger Olaf Riess Jeannette H übener-Schmid Source Type: research

ATR inhibition sensitizes liposarcoma to doxorubicin by increasing DNA damage
In this study, we investigated the expression, function, and potential of ATR as a therapeutic target in liposarcoma. Activation and expression of ATR in liposarcoma was analyzed by immunohistochemistry, which was further explored for correlation with patient clinical characteristics. ATR-specific siRNA and the ATR inhibitor VE-822 were applied to determine the effect of ATR inhibition on liposarcoma cell proliferation and anti-apoptotic activity. Migration activity and clonogenicity were examined using wound healing and clonogenic assays. ATR (p-ATR) was overexpressed in 88.1% of the liposarcoma specimens and correlated w...
Source: Cell Research - May 9, 2022 Category: Cytology Authors: Juncheng Cui Dylan Dean Francis J Hornicek Raphael E Pollock Robert M Hoffman Zhenfeng Duan Source Type: research

NLRP3 inflammasome inhibition attenuates subacute neurotoxicity induced by acrylamide in vitro and in vivo.
In conclusion, our findings indicate that activation of the NLRP3 inflammasome pathway is involved in AA-induced neurotoxicity, whereas MCC950 treatment or NLRP3 knock-out could effectively protect against AA-induced neurotoxic injury through the inhibition of neuroinflammation and activation of the Nrf2 antioxidant pathway. Therefore, the NLRP3 inflammasome might serve as a promising therapeutic target, with drugs designed to specifically inhibit this pathway potentially providing new avenues for preventing or ameliorating AA poisoning. PMID: 32014472 [PubMed - as supplied by publisher]
Source: Toxicology - January 30, 2020 Category: Toxicology Authors: Sui X, Yang J, Zhang G, Yuan X, Li W, Long J, Luo Y, Li Y, Wang Y Tags: Toxicology Source Type: research

Oxidative stress induces apoptosis via calpain- and caspase-3- mediated cleavage of ATM in pancreatic acinar cells.
Authors: Cho SO, Lim JW, Kim H Abstract Oxidative stress-induced DNA cleavage and apoptosis in pancreatic acinar cells has been implicated in the pathogenesis of acute pancreatitis. Thus, an efficient DNA repair process is key to prevention of apoptotic pancreatic acinar cell death. Ataxia telangiectasia mutated (ATM), a sensor of DNA breaks, functions by recruiting DNA repair proteins to initiate the DNA repair process. In the present study, we investigated whether H2O2 produced by the action of glucose oxidase on α-D-glucose (G/GO) induces apoptosis in pancreatic acinar AR42J cells through an alteration of the l...
Source: Free Radical Research - August 14, 2019 Category: Research Tags: Free Radic Res Source Type: research

Cell death mechanisms in a mouse model of retinal degeneration in Spinocerebellar ataxia 7
In this study, we show that in a retinal SCA7 mouse model, polyQ ataxin7 induces stress within the retina and activates Muller cells. Moreover, Unfolded Protein Response and autophagy are activated in SCA7 photoreceptors. We have also shown that the photoreceptor death does not involve a caspase-dependent apoptosis but instead involves apoptosis inducing factor (AIF) and Leukocyte Elastase Inhibitor (LEI/L-DNase II). When these two cell death effectors are downregulated by their siRNA, a significant reduction of photoreceptor death is observed. These results highlight the consequences of polyQ protein expression in the ret...
Source: Neuroscience - January 6, 2019 Category: Neuroscience Source Type: research

Co-inhibition of Pol η and ATR sensitizes cisplatin-resistant non-small cell lung cancer cells to cisplatin by impeding DNA damage repair.
In this study, we showed that there was no difference in intracellular uptake of cisplatin or the removal of platinum-DNA adducts between a cisplatin-resistant NSCLC cell line (A549/DR) and a cisplatin-sensitive NSCLC cell line (A549). However, the capacity to repair DNA interstrand crosslinks (ICLs) and double-strand breaks (DSBs) was significantly enhanced in the A549/DR cell line compared to 3 cisplatin-sensitive cell lines. We found that the protein and mRNA expression levels of Pol η, a Y-family translesion synthesis (TLS) polymerase, were markedly increased upon cisplatin exposure in A549/DR cells compared with A549...
Source: Acta Pharmacologica Sinica - May 31, 2018 Category: Drugs & Pharmacology Authors: Li XQ, Ren J, Chen P, Chen YJ, Wu M, Wu Y, Chen K, Li J Tags: Acta Pharmacol Sin Source Type: research

Lead (Pb) induced ATM-dependent mitophagy via PINK1/Parkin pathway.
In this study, we found that Pb could trigger mitophagy in both HEK293 cells and the kidney cortex of male Kunming mice. However, whether ataxia telangiectasis mutated (ATM) which is reported to be linked with PTEN-induced putative kinase 1 (PINK1)/Parkin pathway (a well-characterized mitophagic pathway) participates in the regulation of Pb-induced mitophagy and its exact role remains enigmatic. Our results indicated that Pb activated ATM in vitro and in vivo, and further in vitro studies showed that ATM could co-localize with PINK1 and Parkin in cytosol and interact with PINK1. Knockdown of ATM by siRNA blocked Pb-induced...
Source: Toxicology Letters - April 13, 2018 Category: Toxicology Authors: Gu X, Qi Y, Feng Z, Ma L, Gao K, Zhang Y Tags: Toxicol Lett Source Type: research