1997
DOI: 10.1006/bmme.1997.2590
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Expression Study of Survival Motor Neuron Gene in Human Fetal Tissues

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Cited by 32 publications
(26 citation statements)
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“…While both genes have identical reading frames, mutations or deletions in SMN1 are causative of SMA (4). Due to a silent polymorphic nucleotide difference within an important exonic enhancer, approximately 90% of SMN2 transcripts are alternatively spliced, encoding a truncated product termed SMNΔ7, while only approximately 10% of SMN2 transcripts encode full-length SMN (5,6). While the SMN protein is associated with a variety of ribonucleic complexes and is critical for spliceosomal assembly in all cell types (7,8), it is still unclear how an SMN deficiency leads to the development of SMA.…”
Section: Introductionmentioning
confidence: 99%
“…While both genes have identical reading frames, mutations or deletions in SMN1 are causative of SMA (4). Due to a silent polymorphic nucleotide difference within an important exonic enhancer, approximately 90% of SMN2 transcripts are alternatively spliced, encoding a truncated product termed SMNΔ7, while only approximately 10% of SMN2 transcripts encode full-length SMN (5,6). While the SMN protein is associated with a variety of ribonucleic complexes and is critical for spliceosomal assembly in all cell types (7,8), it is still unclear how an SMN deficiency leads to the development of SMA.…”
Section: Introductionmentioning
confidence: 99%
“…This point mutation inactivates an Exonic Splicing Enhancer (ESE) resulting in exon 7 skipping in most SMN2 transcripts (6,7). This splicing isoform encodes an unstable truncated form of the SMN protein (8). Consequently, the amount of functional SMN proteins produced from SMN2 gene is not sufficient to compensate for the absence of SMN1 gene expression and maintain functional motor neurons (8,9).…”
Section: Introductionmentioning
confidence: 99%
“…Homozygous loss of the survival motor neuron 1 (SMN1) gene is responsible for greater than 98% of 5q-linked SMA cases (Lefebvre et al 1995). SMN is expressed ubiquitously, however, SMA is a motor neuron speciWc disease (Lefebvre et al 1995;Novelli et al 1997). The SMN protein is found in many cells within the central and peripheral nervous system and is abundant in normal motor neurons (Battaglia et al 1997;La Bella et al 1998Tizzano et al 1998;Williams et al 1999;Young et al 2000).…”
Section: Introductionmentioning
confidence: 99%