SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease affecting lower motor neurons. SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene, which result in reduced levels of functional SMN protein. Biochemical studies have linked the ubiquitously expressed SMN prot...

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Veröffentlicht in:	Human molecular genetics 2014-04, Vol.23 (7), p.1754-1770
Hauptverfasser:	See, Kelvin, Yadav, Preeti, Giegerich, Marieke, Cheong, Pearl S, Graf, Martin, Vyas, Himanshu, Lee, Serene G P, Mathavan, Sinnakaruppan, Fischer, Utz, Sendtner, Michael, Winkler, Christoph
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing - genetics Animals Calcium - metabolism Calcium Signaling Cells, Cultured Danio rerio Disease Models, Animal Freshwater Gene Knockdown Techniques In Situ Hybridization Laser Capture Microdissection Mice Mice, Transgenic Morpholinos - genetics Motor Neurons - metabolism Muscular Atrophy, Spinal - genetics Nerve Tissue Proteins - biosynthesis Nerve Tissue Proteins - genetics Protein Isoforms - genetics RNA, Messenger - genetics Spinal Cord - metabolism Survival of Motor Neuron 1 Protein - genetics Survival of Motor Neuron 2 Protein - genetics Zebrafish
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