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Condition: Ataxia

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Total 67 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

APTX acts in DNA double-strand break repair in a manner distinct from XRCC4
J Radiat Res. 2023 Mar 20:rrad007. doi: 10.1093/jrr/rrad007. Online ahead of print.ABSTRACTAprataxin (APTX), the product of the causative gene for hereditary neurogenerative syndromes Ataxia-oculomotor apraxia 1 and early onset ataxia with oculomotor apraxia and hypoalbuminemia, has an enzymatic activity of removing adenosine monophosphate from DNA 5'-end, which arises from abortive ligation by DNA ligases. It is also reported that APTX physically binds to XRCC1 and XRCC4, suggesting its involvement in DNA single-strand break repair (SSBR) and DNA double-strand break repair (DSBR) via non-homologous end joining pathway. Al...
Source: Cell Research - March 20, 2023 Category: Cytology Authors: Rikiya Imamura Mizuki Saito Mikio Shimada Junya Kobayashi Masamichi Ishiai Yoshihisa Matsumoto 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

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

Cancers, Vol. 12, Pages 3260: Improving Radiation Response in Glioblastoma Using ECO/siRNA Nanoparticles Targeting DNA Damage Repair
Camphausen Radiation therapy is a mainstay in the standard of care for glioblastoma (GBM), thus inhibiting the DNA damage response (DDR) is a major strategy to improve radiation response and therapeutic outcomes. Small interfering RNA (siRNA) therapy holds immeasurable potential for the treatment of GBM, however delivery of the siRNA payload remains the largest obstacle for clinical implementation. Here we demonstrate the effectiveness of the novel nanomaterial, ECO (1-aminoethylimino[bis(N-oleoylcysteinylaminoethyl) propionamide]), to deliver siRNA targeting DDR proteins ataxia telangiectasia mutated and DNA-dependen...
Source: Cancers - November 4, 2020 Category: Cancer & Oncology Authors: Jennifer A. Lee Nadia Ayat Zhanhu Sun Philip J. Tofilon Zheng-Rong Lu Kevin Camphausen Tags: Article 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