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Titolo:
Molecular mechanisms in spinal muscular atrophy: models and perspectives
Autore:
Sendtner, M;
Indirizzi:
Univ Wurzburg, Inst Clin Neurobiol, D-97080 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-97080 robiol, D-97080 Wurzburg, Germany
Titolo Testata:
CURRENT OPINION IN NEUROLOGY
fascicolo: 5, volume: 14, anno: 2001,
pagine: 629 - 634
SICI:
1350-7540(200110)14:5<629:MMISMA>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOTOR-NEURON PROTEIN; SPLICEOSOMAL SM PROTEINS; DISEASE GENE-PRODUCT; DEAD BOX PROTEIN; SINGLE NUCLEOTIDE; MOUSE MODEL; SURVIVAL; COMPLEX; DEGENERATION; APOPTOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
51
Recensione:
Indirizzi per estratti:
Indirizzo: Sendtner, M Univ Wurzburg, Inst Clin Neurobiol, Josef Schneider Str 11, D-97080 Wurzburg, Germany Univ Wurzburg Josef Schneider Str 11 Wurzburg Germany D-97080
Citazione:
M. Sendtner, "Molecular mechanisms in spinal muscular atrophy: models and perspectives", CURR OP NEU, 14(5), 2001, pp. 629-634

Abstract

Spinal muscular atrophy is an autosomal-recessive disorder that is caused by homozygous mutations or deletion of the telomeric copy of the survival of motor neurone (SMN) gene on human chromosome 5q13. The SMN gene is present as an inverted repeat in this chromosomal region, and both SMN genes are expressed. They differ by the preferential expression of a full-length transcript from the telomeric copy and a truncated SMN protein from the centromeric SMN gene, which lacks the carboxyl-terminal portions of the protein encoded by exon 7. The SMN protein is part of multiprotein complexes in the cytoplasm and the nucleus that are involved in spliceosomal small-nuclear RNP assembly. This function depends on interaction with spliceosomal Sm. coreproteins. Recent data have also shown that the SMN protein interacts with RNA polymerase It, thus implying additional functions in messenger RNA transcription, possibly by assembly of RNA polymerase II transcription complexes. Thus, the SMN protein is involved in critical steps of messenger RNA transcription and processing, and current research efforts are directed at identifying the specificity of these defects for the pathophysiological changes in motor neurones that occur in spinal muscular atrophy. Curr Opin Neurol14:629-634. (C) 2001 Lippincott Williams & Wilkins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 09:17:25