Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? (Q52053569)

20 April 2018

title

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? (English)

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20 April 2018

author

Carolina Soler-Botija

1

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20 April 2018

Ivon Cuscó

2

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author name string

Lídia Caselles

3

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Eva López

4

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Montserrat Baiget

5

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Eduardo F Tizzano

6

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publication date

1 March 2005

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Journal of Neuropathology & Experimental Neurology

published in

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volume

64

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issue

3

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page(s)

215-223

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20 April 2018

Identification and characterization of a spinal muscular atrophy-determining gene

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Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

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Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

21 January 2018

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

21 January 2018

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The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

21 January 2018

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The survival motor neuron protein in spinal muscular atrophy

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Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

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Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

21 January 2018

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A mouse model for spinal muscular atrophy

21 January 2018

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

21 January 2018

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Survival motor neuron protein modulates neuron-specific apoptosis

21 January 2018

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Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord

21 January 2018

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Downregulation of Bcl-2 proteins in type I spinal muscular atrophy motor neurons during fetal development.

21 January 2018

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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

21 January 2018

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Structure and organization of the human survival motor neurone (SMN) gene

21 January 2018

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Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

21 January 2018

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A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

21 January 2018

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21 January 2018

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Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy

21 January 2018

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Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system

21 January 2018

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Differential subcellular localization of the survival motor neuron protein in spinal cord and skeletal muscle

21 January 2018

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Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/JNEN/64.3.215

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20 April 2018

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20 April 2018