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SCA3

Terapia génica lentiviral en ratones SCA3: Seguridad a largo plazo

Escrito por la Dra. Ambika Tewari Editado por la Dra. Hayley McLoughlin. Publicado inicialmente en el 6 de agosto de 2021. Traducción al español fueron hechas por FEDAES. La expresión lentiviral de un ARNhc contra ataxina-3 fue bien tolerada y no produjo efectos adversos medibles en ratones de tipo salvaje. La Read More…

Snapshot: What is Riluzole?

Riluzole, often sold under the trade name Rilutek, is a medication used for the treatment of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease that mainly affects neurons controlling muscle movements. The drug was approved by the FDA (1995), Health Canada (1997), and the European Commission (1996). It Read More…

Spotlight: The CMRR Ataxia Imaging Team

Location: University of Minnesota, MN, USA Year Research Group Founded:  2008 What disease areas do you research? Ataxia (SCA1, SCA2, SCA3, SCA6, Friedreich Ataxia) Multiple System Atrophy – Cerebellar Ataxia Huntington’s Disease Amyotrophic Lateral Sclerosis Multiple Sclerosis Alzheimer’s disease Parkinson’s disease Traumatic Brain Injury Diabetes What models and techniques do you Read More…

Spotlight: The Kuo Lab

Principal Investigator: Dr. Sheng-Han Kuo Location: Columbia University, New York, NY, United States Year Founded:  2012 What disease areas do you research? SCA1 SCA2 SCA3 SCA6 Tremor Essential Tremor What models and techniques do you use? Mouse models Post-mortem patient tissue Optogenetics Human physiology EEG (electroencephalogram) Neuromodulation Research Focus What is your Read More…

Failure to repair DNA damage may be linked to SCA3

Written by Dr. Ambika Tewari Edited by Dr. Maria do Carmo Costa Mutations in Ataxin-3 protein prevent the normal functioning of a DNA repair enzyme leading to an accumulation of errors Cells are bombarded by thousands of DNA damaging events each day from internal and external sources. Internal sources include Read More…

A promising biomarker to track disease progression in SCA3

Written by Dr. Ambika Tewari Edited by Dr. Gulin Oz Neurofilament light chain could provide a reliable readout of how far an SCA3 patient’s disease has progressed How often have you heard that the most effective way to treat a disorder is early intervention? In reality, “early” is not possible Read More…

Spotlight: The Neuro-D lab Leiden

Principal Investigator: Dr. Willeke van Roon-Mom Location: Leiden University Medical Centre, Leiden, The Netherlands Year Founded: 1995 What disease areas do you research? SCA1 SCA3 Huntington’s Disease Dutch – Cerebral Amyloid Angiopathy Alzheimer Disease What models and techniques do you use? Mouse Models hiPSC-derived stem cells models Post-mortem patient tissue Read More…

Targeting protein degradation to alleviate symptoms in MJD

Written by Ambika Tewari   Edited by Brenda Toscano Márquez Trehalose, a natural autophagy inducer shows promise as a therapeutic candidate for MJD/SCA3 Every cell has an elaborate set of surveillance mechanisms to ensure optimal functioning. As proteins are synthesized, errors can occur leading to misfolded proteins. These abnormal proteins can Read More…

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