Linked Life Data

9845364

Source:http://linkedlifedata.com/resource/pubmed/id/9845364

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1998-12-28
pubmed:abstractText
Spinal muscular atrophy (SMA) is a common motor neuron degenerative disease that results from reduced levels of, or mutations in, the Survival of Motor Neurons (SMN) protein. SMN is found in the cytoplasm and the nucleus where it is concentrated in gems. SMN interacts with spliceosomal snRNP proteins and is critical for snRNP assembly in the cytoplasm. We show that a dominant-negative mutant SMN (SMNdeltaN27) causes a dramatic reorganization of snRNPs in the nucleus. Furthermore, SMNdeltaN27 inhibits pre-mRNA splicing in vitro, while wild-type SMN stimulates splicing. SMN mutants found in SMA patients cannot stimulate splicing. These findings demonstrate that SMN plays a crucial role in the generation of the pre-mRNA splicing machinery and thus in mRNA biogenesis, and they link the function of SMN in this pathway to SMA.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0092-8674
pubmed:author
pubmed:issnType
Print
pubmed:day
25
pubmed:volume
95
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
615-24
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:9845364-Autoantigens, pubmed-meshheading:9845364-Cyclic AMP Response Element-Binding Protein, pubmed-meshheading:9845364-HeLa Cells, pubmed-meshheading:9845364-Humans, pubmed-meshheading:9845364-Microscopy, Fluorescence, pubmed-meshheading:9845364-Muscular Atrophy, Spinal, pubmed-meshheading:9845364-Nerve Tissue Proteins, pubmed-meshheading:9845364-Nuclear Proteins, pubmed-meshheading:9845364-Open Reading Frames, pubmed-meshheading:9845364-Organelles, pubmed-meshheading:9845364-Phosphoproteins, pubmed-meshheading:9845364-RNA Precursors, pubmed-meshheading:9845364-RNA Splicing, pubmed-meshheading:9845364-RNA-Binding Proteins, pubmed-meshheading:9845364-Ribonucleoproteins, Small Nuclear, pubmed-meshheading:9845364-SMN Complex Proteins, pubmed-meshheading:9845364-Spliceosomes
pubmed:year
1998
pubmed:articleTitle
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing.
pubmed:affiliation
Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia 19104-6148, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't