http://www.cnr.it/ontology/cnr/individuo/prodotto/ID4170
Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs (Articolo in rivista)
- Type
- Label
- Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs (Articolo in rivista) (literal)
- Anno
- 2007-01-01T00:00:00+01:00 (literal)
- Alternative label
Gabanella F., Butchbach M.E.R., Saieva L., Carissimi C., Burghes A.H.M. and Pellizzoni L. (2007)
Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
in PloS one
(literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Gabanella F., Butchbach M.E.R., Saieva L., Carissimi C., Burghes A.H.M. and Pellizzoni L. (literal)
- Pagina inizio
- Pagina fine
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- Rivista
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- Pubblicazione su rivista internazionale (literal)
- Note
- ISI Web of Science (WOS) (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- Titolo
- Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs (literal)
- Abstract
- Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival motor neuron (SMN) protein.
SMN together with Gemins2-8 and unrip proteins form a macromolecular complex that functions in the assembly of small
nuclear ribonucleoproteins (snRNPs) of both the major and the minor splicing pathways. It is not known whether the levels of
spliceosomal snRNPs are decreased in SMA. Here we analyzed the consequence of SMN deficiency on snRNP metabolism in the
spinal cord of mouse models of SMA with differing phenotypic severities. We demonstrate that the expression of a subset of
Gemin proteins and snRNP assembly activity are dramatically reduced in the spinal cord of severe SMA mice. Comparative
analysis of different tissues highlights a similar decrease in SMN levels and a strong impairment of snRNP assembly in tissues
of severe SMA mice, although the defect appears smaller in kidney than in neural tissue. We further show that the extent of
reduction in both Gemin proteins expression and snRNP assembly activity in the spinal cord of SMA mice correlates with
disease severity. Remarkably, defective SMN complex function in snRNP assembly causes a significant decrease in the levels of
a subset of snRNPs and preferentially affects the accumulation of U11 snRNPa component of the minor spliceosomein
tissues of severe SMA mice. Thus, impairment of a ubiquitous function of SMN changes the snRNP profile of SMA tissues by
unevenly altering the normal proportion of endogenous snRNPs. These findings are consistent with the hypothesis that SMN
deficiency affects the splicing machinery and in particular the minor splicing pathway of a rare class of introns in SMA. (literal)
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