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Condition: Ataxia

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Total 67 results found since Jan 2013.

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

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

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

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