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Written by Dr Hannah K Shorrock Edited by Dr Larissa Nitschke Splice modifying compounds can regulate whether or not gene therapy is active Gene therapy is an incredibly versatile therapeutic strategy that can be used to treat monogenic disorders. Gene therapy can inactivate or silence mutant gene transcripts, edit the Read More…
Written by Kaitlyn NeumanEdited by Dr Chandana Kondapalli To induce cell death, or to degrade sick mitochondria – that is the question: a new role for ataxin-3 as a mediator of this decision. Have you ever heard the saying: “I may look like I’m not doing anything, but on a Read More…
Written by Dr Hannah K Shorrock Edited by Dr Vitaliy V Bondar Measuring levels of polyQ ATXN3 proteins in cerebrospinal fluid and plasma distinguishes SCA3 patients from unaffected individuals For disease-modifying medicines or therapies to be approved for use in the clinic, the treatments must demonstrate success at meeting pre-set Read More…
Escrito por Dr. Lauren R. Moore Editado por Dr.Larissa Nitschke. Inicialmente publicado em 5 de julho de 2019. Traduzido para o português por Ana Carolina Martins. A creatina, um suplemento alimentar comum tomado por atletas, atrasa sintomas e melhora o equilíbrio e força em camundongos com SCA3. Poderia um suplemento Read More…
Written by Dr. Hannah K Shorrock Edited by Dr. Hayley McLoughlin A C. elegans model of SCA3 helps to identify the serotonin receptor agonist befiradol as a potential therapeutic for SCA3 To move toward treatments for ataxia patients, it is important to understand what cellular and molecular pathways are dysfunctional Read More…
Written by Carrie Sheeler Edited by Dr. Hayley McLoughlin Researchers use Magnetic Resonance Imaging (MRI) to determine if brain volume can be a biomarker for SCA3 There are two goals of preclinical research. First, to understand the cause of a disease. Second, to develop treatments to stop or slow its Read More…
Escrito por Dr. Maria do Carmo Costa, editado por Dr. Hayley McLoughlin. Inicialmente publicado em 24 de abril de 2020. Traduzido para o português por Priscila P. Sena. Em um trabalho de colaboração utilizando modelo animal, pesquisadores de Portugal e do Reino Unido descobrem um subproduto do óleo de canola Read More…
Written by Dr. Marija Cvetanovic Edited by Dr. Larissa Nitschke Elsaey and colleagues develop a new animal model of SCA1 using zebrafish. These SCA1-fish can help researchers learn more about what happens to neurons as disease progresses. Spinocerebellar ataxia type 1 is dominantly inherited spinocerebellar ataxia caused by the lengthening Read More…
Written by Dr Hannah K Shorrock Edited by Dr. Maria do Carmo Costa Neurofilament light chain predicts cerebellar atrophy across multiple types of spinocerebellar ataxia A team led by Alexandra Durr at the Paris Brain Institute identified that the levels of neurofilament light chain (NfL) protein are higher in SCA1, Read More…
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…
