Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron

J. Neurochem. (2012) 121, 465–474. The axonal survival of motor neuron (a‐SMN) protein is a truncated isoform of SMN1, the spinal muscular atrophy (SMA) disease gene. a‐SMN is selectively localized in axons and endowed with remarkable axonogenic properties. At present, the role of a‐SMN in SMA is un...

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Veröffentlicht in:	Journal of neurochemistry 2012-05, Vol.121 (3), p.465-474
Hauptverfasser:	Locatelli, Denise, d'Errico, Paolo, Capra, Silvia, Finardi, Adele, Colciaghi, Francesca, Setola, Veronica, Terao, Mineko, Garattini, Enrico, Battaglia, Giorgio
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence axon growth axon swellings Axonogenesis Axons - physiology Axons - ultrastructure Biological and medical sciences Blotting, Western Cell Size Cell Survival Cells, Cultured cytoskeletal abnormalities Cytoskeleton - pathology Cytoskeleton - ultrastructure Data processing Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diseases of striated muscles. Neuromuscular diseases Elongation Fluorescent Antibody Technique Hybrid Cells Hybrids Medical sciences Microscopy, Confocal Missense mutation Molecular Sequence Data motor neuron Motor neurons Motor Neurons - physiology Motor Neurons - ultrastructure Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - pathology Mutation Mutation - genetics Mutation - physiology Mutation, Missense - genetics Neurochemistry Neurology Neurons Overexpression Plasmids - genetics Proteins SMN protein Spinal cord spinal muscular atrophy Subcellular Fractions - pathology Subcellular Fractions - ultrastructure Survival of Motor Neuron 1 Protein - genetics Transfection Tudor domain
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