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SCAsource Article Summary

Sunrise of Gene Therapy for Friedreich’s Ataxia

Written by Dr. Marija Cvetanovic   Edited by Dr. Ronald Buijsen Researchers from the University of California show they can “edit” the Frataxin gene in human cells from Friedreich’s Ataxia and transplant them into mice. This lays the groundwork for this method to be tested for safety. Friedreich’s ataxia is a Read More…

Repeat interruptions are associated with epileptic seizures in SCA10

Written by Dr Hannah Shorrock  Edited by Larissa Nitschke Repeat interruptions in SCA10 influence repeat tract stability and are associated with epileptic seizures Multiple spinocerebellar ataxias (SCAs) are caused by repeat expansion mutations, but in some cases, these repeat expansions are interrupted. The presence of repeat interruptions can influence disease 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…

A New Use for Old Drugs

Written by Dr. Amy Smith-Dijak Edited by Logan Morrison Basic biology helps identify a new treatment for ataxia Drug design doesn’t always have to start with a blank slate. Sometimes understanding how existing drugs work can help researchers to design new ones, or even to recombine old drugs in new Read More…

Finding New Off-Balance Protein Networks in SCA7

Written by Frida Niss Edited by Dr. Siddharth Nath Can neurodegeneration in SCA7 in part be due to faulty calcium homeostasis in the cerebellum? Polyglutamine diseases are caused by an increase in the length of CAG repeats within a specific gene. The mutation for spinocerebellar ataxia type 7 (SCA7) was Read More…

Terapia gênica validada em celulas estaminais SCA3 humanas

Escrito por Dr. Marija Cvetanovic, Editado por Dr. Sriram Jayabal, Traduzido para Português por Guilherme Santos, Publicado inicialmente em: 20 de março de 2020. Grupo de pesquisa em Michigan relata a criação do primeiro modelo de célula humana aprovado pelo NIH que reflete as características da doença SCA3 – defeitos Read More…

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