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Condition: Ataxia

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Total 67 results found since Jan 2013.

53BP1 loss suppresses the radiosensitizing effect of icotinib hydrochloride in colorectal cancer cells.
CONCLUSIONS: Our studies confirmed that the loss of 53BP1 serves as a negative regulator of the radiosensitizing effect of icotinib in part by suppressing the ATM-CHK2-P53 apoptotic pathway. PMID: 29388453 [PubMed - as supplied by publisher]
Source: International Journal of Radiation Biology - February 3, 2018 Category: Radiology Tags: Int J Radiat Biol Source Type: research

Novel function of HATs and HDACs in homologous recombination through acetylation of human RAD52 at double-strand break sites
by Takeshi Yasuda, Wataru Kagawa, Tomoo Ogi, Takamitsu A. Kato, Takehiro Suzuki, Naoshi Dohmae, Kazuya Takizawa, Yuka Nakazawa, Matthew D. Genet, Mika Saotome, Michio Hama, Teruaki Konishi, Nakako Izumi Nakajima, Masaharu Hazawa, Masanori Tomita, Manabu Koike, Katsuko Noshiro, Kenichi Tomiyama, Chizuka Obara, Takaya Gotoh, Ayako Ui, Akira Fujimori, Fumiaki Nakayama, Fumio Hanaoka, Kaoru Sugasawa, Ryuichi Okayasu, Penny A. Jeggo, Katsushi Tajima The p300 and CBP histone acetyltransferases are recruited to DNA double-strand break (DSB) sites where they induce histone acetylation, thereby influencing the chromatin structure ...
Source: PLoS Genetics - March 28, 2018 Category: Genetics & Stem Cells Authors: Takeshi Yasuda Source Type: research

Protein kinase N1 critically regulates cerebellar development and long-term function
Increasing evidence suggests that synapse dysfunctions are a major determinant of several neurodevelopmental and neurodegenerative diseases. Here we identify protein kinase N1 (PKN1) as a novel key player in fine-tuning the balance between axonal outgrowth and presynaptic differentiation in the parallel fiber–forming (PF-forming) cerebellar granule cells (Cgcs). Postnatal Pkn1–/– animals showed a defective PF–Purkinje cell (PF-PC) synapse formation. In vitro, Pkn1–/– Cgcs exhibited deregulated axonal outgrowth, elevated AKT phosphorylation, and higher levels of neuronal differentiation-2 (NeuroD2), a transcript...
Source: Journal of Clinical Investigation - April 16, 2018 Category: Biomedical Science Authors: Stephanie zur Nedden, Rafaela Eith, Christoph Schwarzer, Lucia Zanetti, Hartwig Seitter, Friedrich Fresser, Alexandra Koschak, Angus J.M. Cameron, Peter J. Parker, Gottfried Baier, Gabriele Baier-Bitterlich 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

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

GSE113923 RNA-dependent epigenetic silencing directs transcriptional down regulation caused by intronic repeat expansions
Contributors : Hannes Eimer ; Sridevi Sureshkumar ; Avilash S Yadav ; Calvin Kraupner-Taylor ; Champa Bandaranayake ; Andrei Seleznev ; Tamblyn Thomason ; Stephen Fletcher ; Stephanie F Gordon ; Bernard J Carroll ; Sureshkumar BalasubramanianSeries Type : Expression profiling by high throughput sequencingOrganism : Arabidopsis thalianaTranscriptional down regulation caused by intronic triplet repeat expansions underlies diseases such as Friedreich?s ataxia. This down regulation of gene expression is coupled with epigenetic changes but the underlying mechanisms are unknown. Here, we show that an intronic TTC/GAA triplet exp...
Source: GEO: Gene Expression Omnibus - July 25, 2018 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Arabidopsis thaliana Source Type: research

RNA-Dependent Epigenetic Silencing Directs Transcriptional Downregulation Caused by Intronic Repeat Expansions
Publication date: Available online 26 July 2018Source: CellAuthor(s): Hannes Eimer, Sridevi Sureshkumar, Avilash Singh Yadav, Calvin Kraupner-Taylor, Champa Bandaranayake, Andrei Seleznev, Tamblyn Thomason, Stephen J. Fletcher, Stephanie Frances Gordon, Bernard J. Carroll, Sureshkumar BalasubramanianSummaryTranscriptional downregulation caused by intronic triplet repeat expansions underlies diseases such as Friedreich’s ataxia. This downregulation of gene expression is coupled with epigenetic changes, but the underlying mechanisms are unknown. Here, we show that an intronic GAA/TTC triplet expansion within the IIL1 gene...
Source: Cell - July 26, 2018 Category: Cytology 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

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

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

Olaparib-induced Apoptosis Through EBNA1-ATR-p38 MAPK Signaling Pathway in Epstein-Barr Virus-positive Gastric Cancer Cells
CONCLUSION: Olaparib treatment led to different cellular responses depending on EBV infection in gastric cancer cell lines. These results provide new insights into the mechanism of olaparib-induced apoptosis in gastric cancer cells and suggest that EBV infection should be considered when developing new potential therapeutic agents for gastric cancer.PMID:34969765 | DOI:10.21873/anticanres.15513
Source: Cell Research - December 31, 2021 Category: Cytology Authors: Sung Ho Moon Nam-Sook Park Min Hye Noh Yeong Seok Kim Soon Ho Cheong Dae Young Hur 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

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

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