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Written by Ross Pelzel Edited by Eder Xhako, PhD and Celeste Suart, PhD Alternative splicing produces different versions of proteins that arise from the same gene. In many neurodegenerative diseases, this process results in dysfunctional proteins that lead to disease symptoms. In Shorrock et al., the authors investigate how alternative Read More…
Escrito por: Asmer Aliyeva Editado por: Dr. Hannah K Shorrock Traduzido por: Priscila Pereira Sena Tratamento com Oligonucleotídeo Antisenso (ASO, do inglês Antisense Oligonucleotide) melhora a função dos neurônios de Purkinje regulada por canais de potássio, e destaca a conectividade cerebral alterada na interrupção do movimento na SCA3. Entender quais tipos celulares Read More…
La Comunicación Aumentativa y Alternativa (CAA) es un término general que tiene muchos significados. En pocas palabras, la CAA es toda forma de comunicación distinta del habla. En esencia, la CAA utiliza símbolos. Para que un mensaje se considere una CAA, debe representarse simbólicamente. La CAA debe significar algo más. Read More…
Escrito por Asmer Aliyeva Editado por Dr. Hannah K Shorrock Traducido por BS Ismael Araujo-Aliaga El tratamiento con oligonucleótidos antisentido (ASO) mejora la función de las neuronas de Purkinje regulada por canales de potasio y resalta la conectividad cerebral alterada en el trastorno del movimiento en SCA3. Comprender qué tipos de células Read More…
Written by Alexandra Putka Edited by Dr Hannah K Shorrock Scientists characterize SCA1, 2, 3, & 6 disease progression, finding that symptoms change most rapidly in the first 10 years of the disease. Designing clinical trials for rare diseases such as spinocerebellar ataxias (SCAs) requires us to know the timeline Read More…
Written by Juan MatoEdited by Hayley McLoughlin, PhD German research team uses specialized imaging technology to measure neuropathy in SCA3 patients. The Unexplored Depths of Peripheral Neuropathy in SCA3 Spinocerebellar Ataxia Type 3 (SCA3) is an inherited neurodegenerative disease that affects balance, coordination, speech, and overall mobility. However, did you Read More…
Escrito por Dr. Gülin ÖzEditado por Dr. Celeste SuartTraduzido por Ana Carolina Martins A ressonância magnética (RM) detecta alterações cerebrais antes dos sintomas de ataxia. A lista de empresas farmacêuticas que direcionaram a sua atenção para as ataxias tem aumentado ao longo da última década. Isto se deve ao promissor Read More…
Written by Tala Ortiz Edited by Dr. Larissa Nitschke Repeat-associated non-AUG (RAN) translation in CAG repeat expansion diseases is toxic to cells and causes them to die. The Jain group found that RAN proteins and expanded RNA can be found in the same location in cells and interfere with essential Read More…
Written by Asmer Aliyeva Edited by Dr. Hannah K Shorrock Antisense Oligonucleotide (ASO) treatment improves Purkinje neuron function regulated by potassium channels and highlights altered brain connectivity in movement disruption in SCA3. Understanding which cell types are important for disease onset is vital for therapy development and treatment options for Read More…
Written by Alexandra Putka Edited by Dr. Hayley S. McLoughlin Walking measurements detect changes in SCA3 severity across a 1-year study and represent an important biomarker of disease progression Medical doctors use a number of tools to assess a patient’s health: a thermometer and blood pressure monitor, for example. These Read More…
