The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.

Monani, U R; Sendtner, M; Coovert, D D; Parsons, D W; Andreassi, C; Le, T T; Jablonka, S; Schrank, B; Rossoll, W; Rossol, W; Prior, T W; Morris, G E; Burghes, A H

Monani, U R; Sendtner, M; Coovert, D D; Parsons, D W; Andreassi, C; Le, T T; Jablonka, S; Schrank, B; Rossoll, W; Rossol, W; Prior, T W; Morris, G E; Burghes, A H.

Affiliation

Monani UR; Departments of Neurology, College of Medicine, Ohio State University, Columbus, OH 43210, USA.

Hum Mol Genet ; 9(3): 333-9, 2000 Feb 12.

Article in En | MEDLINE | ID: mdl-10655541

Subject(s)

Muscular Atrophy, Spinal/genetics; Nerve Tissue Proteins/genetics; Animals; Animals, Newborn; Blotting, Northern; Blotting, Western; Brain Stem/metabolism; Brain Stem/pathology; Centromere; Cyclic AMP Response Element-Binding Protein; Disease Models, Animal; Exons; Gene Dosage; Genotype; Humans; In Vitro Techniques; Mice; Mice, Transgenic; Microinjections; Motor Neurons/pathology; Muscular Atrophy, Spinal/mortality; Muscular Atrophy, Spinal/pathology; Nerve Tissue Proteins/metabolism; RNA-Binding Proteins; Reverse Transcriptase Polymerase Chain Reaction; SMN Complex Proteins; Spinal Cord/metabolism; Spinal Cord/pathology; Survival of Motor Neuron 1 Protein; Survival of Motor Neuron 2 Protein

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Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Nerve Tissue Proteins Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2000 Document type: Article Affiliation country: United States Country of publication: United kingdom

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