Spinocerebellar ataxia

Ebook "Stem cells in modeling human genetic diseases" examples of the use of iPS cell technology, a recent Nobel Prize-winning scientific breakthrough, to obtain patient-specific pluripotent cells from which many types of specialized cells involved in a particular disease can be generated, including psychiatric and neurodegenerative disorders, muscular dystrophies, laminopathies, among others.

157p ladongphongthanh1008 22-04-2024 6 2   Download

Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.

6p vidoctorstrange 06-05-2023 2 2   Download

Spinocerebellar ataxia types 2 (SCA2) and 3 (SCA3) are autosomal-dominantly inherited, neurodegenerative dis-eases caused by CAG repeat expansions in the coding regions of the genes encoding ataxin-2 and ataxin-3, respectively. To provide a rationale for further functional experiments, we explored the proteinarchitectures of ataxin-2 and ataxin-3. Using structure-based multiple sequence alignments of homologous proteins, we investigated domains, sequence motifs, and interaction partners.

16p awards 05-04-2013 46 3   Download

The protein ataxin-3 is responsible for spinocerebellar ataxia type 3, a neu-rodegenerative disease triggered when the length of a stretch of consecutive glutamines exceeds a critical threshold. Different physiologic roles have been suggested for this protein. More specifically, recent papers have shown that the highly conserved N-terminal Josephin domain of ataxin-3 binds ubiquitin and has ubiquitin hydrolase activity, thanks to a catalytic device specific to cysteine proteases.

10p inspiron33 25-03-2013 30 3   Download

Model systems are important tools for the investigation of pathogenic processes. Especially for diseases with a late onset of symptoms and slow progression, like most spinocerebellar ataxias (SCA), it is time-consuming or even impossible to analyze all aspects of the pathogenesis in humans.

206p hotmoingay 03-01-2013 41 3   Download

Many risks that we face on a daily basis may be unavoidable, so there is an expectation by individuals that the level of risk is being managed and reduced to safe levels through evidence-based risk assessments and public health interventions. There has been a growing recognition that risks need to be viewed in their public health context to ensure that the most important risks are prioritized and addressed. Under a broader public health imperative, risk assessments are used as an important process to quantify the probability of harmful effects to individuals, sub-populations (eg.

206p wqwqwqwqwq 20-07-2012 77 5   Download

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Mesenchymal stem cell transplantation ameliorates motor function deterioration of spinocerebellar ataxia by rescuing cerebellar Purkinje cells...

9p toshiba23 21-11-2011 41 3   Download

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: Protein-protein interaction networks in the spinocerebellar ataxias...

3p thulanh20 10-11-2011 39 2   Download