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Spinal muscular atropy

Benjamin S Wilfond, Christian Morales, Holly A Taylor
No abstract text is available yet for this article.
October 2017: American Journal of Bioethics: AJOB
Derek Ho, M Omair Noor, Ulrich J Krull, Glenn Gulak, Roman Genov
A spectral-multiplexed fluorescence contact imaging microsystem for DNA analysis is presented. The microsystem integrates a filterless CMOS Color PhotoGate (CPG) sensor that exploits the polysilicon gate as an optical filter, and therefore does not require an external color filter. The CPG is applied to fluorescence-based transduction in a spectrally multiplexed format by differentiating among multiple emission bands, hence replacing the functionality of a bank of emission filters. A microsystem has been quantitatively modeled and prototyped based on the CPG fabricated in a standard 0...
October 2013: IEEE Transactions on Biomedical Circuits and Systems
Remco Sprangers, Philipp Selenko, Michael Sattler, Irmgard Sinning, Matthew R Groves
Spinal muscular atropy (SMA) is the major genetic disease leading to childhood mortality and is caused by mutations in or deletions of the smn1 gene. The human survival of motor neurons (SMN) protein encoded by this gene plays an important role in the assembly of snRNPs (small nuclear ribonucleoprotein complexes) via binding to the spliceosomal Sm proteins. The tails of these Sm proteins contain symmetrically dimethylated arginines that are recognized by the central SMN Tudor domain. To gain insight in the molecular basis of this specific interaction, the SMN Tudor domain has been crystallized...
February 2003: Acta Crystallographica. Section D, Biological Crystallography
Y Tsujimoto
Apoptosis is an essential physiological cell death for selective elimination of cells, involved in a variety of biological events including morphogenesis, cell turn over and removal of harmful cells. Disruption of the regulation of apoptosis may result in various diseases, including cancer and autoimmune diseases both associated with inhibition of apoptosis and various degenerative disorders associated with enhancement of apoptosis, and therefore, apoptosis is an important theme in the medical field. Apoptosis is driven by a family of cysteine proteases, called caspases and regulated by a Bcl-2 family of proteins, which is the best characterized apoptosis regulators...
2000: Journal of Neural Transmission. Supplementum
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