Bill Nye the Science Guy is speaking at the 2024 Annual Ataxia Conference! Register now. LEARN MORE!
Brainstem – the part that connects and acts as a communicator between our brain and our spinal cord. The brainstem itself is composed of midbrain, pons, and medulla oblangata. Even minor injuries or disruptions to this neural communication and this region can have devastating consequences. The pons is a horseshoe-shaped 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…
Many daily tasks, such as writing or buttoning a shirt, require fine motor skills. One aspect of fine motor skills is muscle strength. In order to write, for example, you need to grip the pencil with the appropriate amount of force. Ataxia can involve a loss of control over fine Read More…
Oligonucleotídeos antisenso (em inglês “antisense oligonucleotides” – ASOs ou AONs) são pequenas moléculas que podem ser usadas para prevenir ou alterar a produção de proteínas. As proteínas são os “trabalhadores” da célula e coordenam a maior parte dos processos celulares. A formação de proteínas geralmente consiste em duas etapas: primeiro, Read More…
Immunofluorescence is a common laboratory technique used to see proteins in a sample through microscopy. It relies on attaching a fluorophore, a chemical compound that can release light of a certain colour, to an antibody that can recognize a specific protein of interest. Immunofluorescence is an important tool for studying Read More…
Principal Investigator: Vikram Shakkottai, MD, PhD Location: UT Southwestern Medical Center, Dallas, TX, USA Year Founded: 2010 What disease areas do you research? SCA1 SCA2 SCA3 SCA6 SCA7 What models and techniques do you use? Mouse Models Microscopy Patch-clamp electrophysiology In vivo electrophysiology Next-generation sequencing approaches (RNA-seq) Research Focus What is your 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…
Most things about you are written in your genes: from the colour of your eyes, whether you are lactose intolerant, to if you have a higher chance of getting certain diseases. You may have heard of the popular ancestry DNA testing service that tells if you are part Chinese, part Read More…
Terapia genética significa utilizar ácidos nucleicos para tratar uma desordem genética. Esses ácidos nucleicos podem ser desenhados em uma variedade de formas para alcançar um mesmo propósito terapêutico. Ferramentas de terapia genética podem ser utilizadas para corrigir um gene mutante através de uma das três formas: Expressão de uma cópia saudável 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…
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