A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a relatively common neurodegenerative disease caused by homozygous loss of the survival motor neuron 1 (SMN1) gene. Humans possess a linked, nearly identical gene, SMN2, which produces a functional SMN protein but at levels insufficient to compensate for loss of SMN1...

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Veröffentlicht in:	Nature genetics 2003-08, Vol.34 (4), p.460-463
Hauptverfasser:	Manley, James L, Kashima, Tsuyoshi
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy Atrophy, Muscular Base Sequence Biological and medical sciences Cell physiology Cerebrospinal fluid. Meninges. Spinal cord Cyclic AMP Response Element-Binding Protein Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diagnosis Diseases of striated muscles. Neuromuscular diseases Enhancer Elements, Genetic Exon (Molecular genetics) Exons Fundamental and applied biological sciences. Psychology Genetic aspects Genetic engineering HeLa Cells Heterogeneous Nuclear Ribonucleoprotein A1 Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism Humans Medical sciences Models, Genetic Molecular and cellular biology Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - metabolism Mutation Nerve Tissue Proteins - genetics Nervous system (semeiology, syndromes) Neurology Physiological aspects Physiology Proteins Risk factors RNA - genetics RNA - metabolism RNA Interference RNA Splicing - genetics RNA-Binding Proteins Signal transduction Silencer Elements, Transcriptional SMN Complex Proteins Survival of Motor Neuron 1 Protein Survival of Motor Neuron 2 Protein Transfection
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