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Ataxia

Snapshot: What is the Hippocampus?

How do you remember your name? Thank your hippocampus, a part of the brain that lies buried in the cerebrum and plays an important role in memory. The hippocampus looks like a seahorse when removed from the brain and hence the name (derived from Hippokampus, the Greek word for seahorse). Read More…

Failure to repair DNA damage may be linked to SCA3

Written by Dr. Ambika Tewari Edited by Dr. Maria do Carmo Costa Mutations in Ataxin-3 protein prevent the normal functioning of a DNA repair enzyme leading to an accumulation of errors Cells are bombarded by thousands of DNA damaging events each day from internal and external sources. Internal sources include Read More…

Snapshot: What is Neurofilament light protein (NfL)?

Nerve cells (aka neurons) are unique cells in that they have long, and thin extensions called axons which form connections with and talk to other neurons. This particular shape of neurons determines how quickly they can get their messages to other cells. You can think of the axons in the Read More…

Clearing aggregated ataxin-2 protein as a therapeutic avenue for SCA2

Written by Dr. Vitaliy Bondar Edited by Dr. Hayley McLoughlin New research suggests that mutant ataxin-2 protein overwhelms cells in SCA2, leading to decreased autophagy and clearance of damaged proteins. Many comparisons can be made between cells and human beings. Just like humans, cells can accumulate junk and waste at Read More…

2 minuti di Scienza: Cosa sono I nucleotidi antisenso?

I nucleotidi anti-senso (anche noti come ASOs o AON, dall’inglese Antisense oligonucleotides) sono piccole molecole che possono essere usate per prevenire o alterare la produzione di proteine. Le proteine sono la forza lavoro della cellula, e dirigono la maggior parte dei processi cellulari. Le proteine sono prodotte in due fasi: Read More…

A new molecule identified that controls cerebellar communication

Written by Dr. Ambika Tewari Edited by Dr. Sriram Jayabal Targeting phosphatases in the cerebellum can correct miscommunication in multiple models of ataxia. The cerebellum is essential for motor coordination and consists of the coordinated activity of different types of cells. Purkinje cells are one of the most fascinating cell Read More…

Snapshot: What is a Genome-Wide Association Study (GWAS)?

A genome is a person’s complete set of DNA which provides the instructions to make and maintain their body’s functions. Throughout the entire genome, there are genetic differences between individuals known as single nucleotide polymorphisms or SNPs (pronounced “snips”). These variations may be unique or may occur in many people. Read More…

Discovery of a new molecular pathway in spinocerebellar ataxia 17

Written by Dr. Sriram Jayabal Edited by Dr. Ray Truant A potential new pathway for SCA17: gene therapy that in mice restores a critical protein deficit protects brain cells from death in SCA17. Neurodegenerative ataxias are a group of brain disorders that progressively affect one’s ability to make fine coordinated Read More…

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