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Written by Ziyang Zhao Edited by Dr. Hayley McLoughlin A newly developed smartphone application will allow patients to assess ataxia at home. There’s an interesting problem in science that’s often overshadowed in the scientific community. It’s not as flashy or as newsworthy as most scientific headlines, like the eradication of Read More…
Escrito por la Dra. Hannah Shorrock Editado por la Dra. Larissa Nitschke. Publicado inicialmente en el 7 de mayo de 2021. Traducción al español fueron hechas por FEDAES y Carlos Barba. Pastor y sus colegas identifican pequeñas moléculas aprobadas por la FDA que reducen selectivamente la proteína tóxica expandida con poliglutamina Read More…
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…
Written by Dr. Judit M Perez Ortiz Edited by Dr. Maria do Carmo Costa A druggable target in Spinocerebellar Ataxia type 1 (SCA1) shows promise in treating cerebellar and non-cerebellar aspects of disease. Spinocerebellar Ataxia type 1 (SCA1) is a neurodegenerative disease that typically starts with coordination difficulties (ataxia) in Read More…
Written by Dr. By Marija Cvetanovic Edited by Dr. Larissa Nitschke Suart et al. show that Ataxin-1 interacts with an important DNA repair protein Ataxia telangiectasia mutated (ATM), and that reduction of ATM improves motor phenotype in the fruit fly model of SCA1, indicating DNA repair as an important modifier Read More…
Written by Sophia Leung Edited by Dr. Marija Cvetanovic While the mutant proteins in SCA19/22 lose part of their innate functions and properties, they also disrupt the key functions of the normal healthy protein. The underlying mechanism of the hereditary property of SCA19/22 is elusive. In this study, the researchers Read More…
Written by Dr. Ambika Tewari Edited by Dr. Hayley McLoughlin Lentiviral expression of an shRNA against ataxin-3 was well-tolerated and produced no measurable adverse effects in wild-type mice. Evaluating the safety profile is a necessary and crucial step in qualifying a therapy for use in patients. Gene therapy is an Read More…
Written by Dr. Hannah Shorrock Edited by Dr. Hayley McLoughlin Nitschke and colleagues identify a microRNA that regulates ataxin-1 levels and rescues motor deficits in a mouse model of SCA1 What if you could use systems already in place in the cell to regulate levels of toxic proteins in disease? Read More…
Written by Dr Hannah Shorrock Edited by Dr. Larissa Nitschke Pastor and colleagues identify FDA-approved small molecules that selectively reduce the toxic polyglutamine-expanded protein in SCA6. Selectively targeting disease-causing genes without disrupting cellular functions is essential for successful therapy development. In spinocerebellar ataxia type 6 (SCA6), achieving this selectivity is Read More…
Written by Dr. Marija Cvetanovic Edited by Dr. Larissa Nitschke Expanded CAG repeats are the cause of Huntington’s disease (HD) and several spinocerebellar ataxias (SCAs). Longer inherited CAG expansions correlate with the earlier disease onset and worse symptoms. We know from past research that these expansions are unstable and become longer Read More…
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