Protein expression changes in spinal muscular atrophy revealed with a novel antibody array technology.

Journal article

Autosomal recessive proximal spinal muscular atrophy (SMA) is a severe neurodegenerative disease of childhood causing weakness and wasting secondary to motor neuron dysfunction. Over 97% of cases are caused by deletions or mutations within the survival motor neuron (SMN) gene. The SMN protein is highly expressed within brain, spinal cord and muscle, and is decreased in SMA patients. It has been shown to have an important role in RNA metabolism, but the reason for the specific motor neuron los...

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Authors: Anderson, K; Potter, A; Baban, D; Davies, K

• Publication status: Published
• Journal: Brain : a journal of neurology
• Volume: 126
• Issue: Pt 9
• Pages: 2052-2064
• Publication date: 2003-09-01
• DOI: 10.1093/brain/awg208
• EISSN: 1460-2156
• ISSN: 0006-8950
• Language: English
• Keywords: Oligonucleotide Array Sequence Analysis; Muscle Proteins; RNA-Binding Proteins; Immunoassay; Cyclic AMP Response Element-Binding Protein; Blotting, Western; Models, Biological; SMN Complex Proteins; Muscular Atrophy, Spinal; Humans; Adult; Female; Cells, Cultured; Proteomics; RNA, Messenger; Adolescent; Male; Muscle, Skeletal; Gene Expression; Nerve Tissue Proteins