Refined Characterization of the Expression and Stability of the SMN Gene Products

Spinal muscular atrophy (SMA) is characterized by degeneration of lower motor neurons and caused by mutations of the SMN1 gene. SMN1 is duplicated in a homologous gene called SMN2 , which remains present in patients. SMN has an essential role in RNA metabolism, but its role in SMA pathogenesis remai...

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Veröffentlicht in:	The American journal of pathology 2007-10, Vol.171 (4), p.1269-1280
Hauptverfasser:	Vitte, Jérémie, Fassier, Coralie, Tiziano, Francesco D, Dalard, Cécile, Soave, Sabrina, Roblot, Natacha, Brahe, Christine, Saugier-Veber, Pascale, Bonnefont, Jean Paul, Melki, Judith
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Antibodies - immunology Biological and medical sciences Cell Line Cells, Cultured Cyclic AMP Response Element-Binding Protein - analysis Cyclic AMP Response Element-Binding Protein - genetics Cyclic AMP Response Element-Binding Protein - metabolism Humans Investigative techniques, diagnostic techniques (general aspects) Medical sciences Mice Mice, Inbred C57BL Muscular Atrophy, Spinal - metabolism Nerve Tissue Proteins - analysis Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Neurons - chemistry Neurons - metabolism Pathology Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Regular RNA-Binding Proteins - analysis RNA-Binding Proteins - genetics RNA-Binding Proteins - metabolism Sequence Deletion SMN Complex Proteins Survival of Motor Neuron 1 Protein Survival of Motor Neuron 2 Protein
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