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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

Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells
AbstractFriedreich ’s ataxia is an inherited neurological disorder characterised by mitochondrial dysfunction and increased susceptibility to oxidative stress. At present, no therapy has been shown to reduce disease progression. Strategies being trialled to treat Friedreich’s ataxia include drugs that improve mito chondrial function and reduce oxidative injury. In addition, stem cells have been investigated as a potential therapeutic approach. We have used siRNA-induced knockdown of frataxin in SH-SY5Y cells as an in vitro cellular model for Friedreich’s ataxia. Knockdown of frataxin protein expression to l evels det...
Source: The Cerebellum - April 29, 2017 Category: Neurology Source Type: research

The Role of Staufen1 in Aberrant RNA Metabolism in SCA2 (P6.396)
Conclusions: Our results unravel a novel function for Staufen1 in aberrant RNA processing events and indicate its role in SCA2 pathogenesis. Our results further support a role for aberrant RNA metabolism in neurodegeneration thereby revealing its potential as a therapeutic target. Study Supported by: This work was supported by Grants RO1NS33123 and RC4NS073009 from the National Institutes of Neurological Disorders and Stroke to SMP.Disclosure: Dr. Paul has nothing to disclose. Dr. Dansithong has nothing to disclose. Dr. Figueroa has nothing to disclose. Dr. Scoles has nothing to disclose. Dr. Pulst has received personal co...
Source: Neurology - April 3, 2016 Category: Neurology Authors: Paul, S., Dansithong, W., Figueroa, K., Scoles, D., Pulst, S. Tags: Movement Disorders: Spinocerebellar Ataxias Source Type: research

Coenzyme Q10, Statin, and Spinocerebellar Ataxias (I11-1.008)
CONCLUSIONS:CoQ10 is associated with better clinical outcome in SCA1, 2, and 3 whereas statins are associated with worse clinical outcome in SCA6. These drug exposures did not appear to influence clinical progression within 2 years. CoQ10 and statins may have only symptomatic effects or require a longer period of time for disease modification.Study Supported by:American Brain Foundation Research Fellowship, Rare Disease Clinical Research Network RC1NS068897, and NINDS K08 NS083738.Disclosure: Dr. Kuo has nothing to disclose. Dr. Lo has nothing to disclose. Dr. Figueroa has nothing to disclose. Dr. Pulst has received person...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Kuo, S.-H., Lo, R., Figueroa, K., Pulst, S., Perlman, S., Wilmot, G., Gomez, C., Schmahmann, J., Paulson, H., Shakkottai, V., Ying, S., Zesiewicz, T., Bushara, K., Geschwind, M., Xia, G., Subramony, S., Ashizawa, T. Tags: Proteinopathy in Neurodegenerative Disease Poster Presentations Source Type: research

Coenzyme Q10, Statin, and Spinocerebellar Ataxias (P6.047)
CONCLUSIONS:CoQ10 is associated with better clinical outcome in SCA1, 2, and 3 whereas statins are associated with worse clinical outcome in SCA6. These drug exposures did not appear to influence clinical progression within 2 years. CoQ10 and statins may have only symptomatic effects or require a longer period of time for disease modification.Study Supported by:American Brain Foundation Research Fellowship, Rare Disease Clinical Research Network RC1NS068897, and NINDS K08 NS083738.Disclosure: Dr. Kuo has nothing to disclose. Dr. Lo has nothing to disclose. Dr. Figueroa has nothing to disclose. Dr. Pulst has received person...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Kuo, S.-H., Lo, R., Figueroa, K., Pulst, S., Perlman, S., Wilmot, G., Gomez, C., Schmahmann, J., Paulson, H., Shakkottai, V., Ying, S., Zesiewicz, T., Bushara, K., Geschwind, M., Xia, G., Subramony, S., Ashizawa, T. Tags: Movement Disorders: Spinocerebellar Ataxias Source Type: research

Prodegenerative IκBα expression in oligodendroglial α-synuclein models of multiple system atrophy.
Abstract Multiple system atrophy is a progressive, neurodegenerative disease characterized by parkinsonism, ataxia, autonomic dysfunction, and accumulation of α-synuclein in oligodendrocytes. To understand how α-synuclein aggregates impact oligodendroglial homeostasis, we investigated an oligodendroglial cell model of α-synuclein dependent degeneration and identified responses linked to the NF-κB transcription factor stress system. Coexpression of human α-synuclein and the oligodendroglial protein p25α increased the expression of IκBα mRNA and protein early during the degenerative process and this was depe...
Source: Neurobiology of Disease - December 17, 2013 Category: Neurology Authors: Kragh CL, Gysbers AM, Rockenstein E, Murphy K, Halliday GM, Masliah E, Jensen PH Tags: Neurobiol Dis Source Type: research