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Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. De plus, nous expédions NOP56 Anticorps (30) et et beaucoup plus de produits pour cette protéine.
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Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China, with its causative mutation as a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene, has been described.
Studies indicate that the causative mutation for spinocerebellar ataxias SCA36, namely intronic hexanucleotide GGCCTG expansion in NOP56 gene, has been identified.
We newly found intronic hexanucleotide GGCCTG gene expansion in NOP56 gene as the causative mutation in nine unrelated Japanese familial hereditary spinocerebellar ataxia patients
This study demonistrated that NOP56 mutation is response spinocerebellar ataxia 36 in Spainish family.
Expansion of the intronic GGCCTG hexanucleotide repeat in NOP56 causes a unique form of spinocerebellar ataxias, SCA36, which shows not only ataxia but also motor neuron dysfunction.
hNop56p functions in the early to middle stages of 60 S subunit synthesis in human cells and has functional similarities with treacle-associated ribonucleoproteins
Data demonstrate that fibrillarin and Nop56 directly interact in vivo, and that this interaction is indispensable for the association of both proteins with the box C/D snoRNPs.
snoRNP assembly factor NUFIP can regulate the interactions between TIP48 and TIP49 and the core box C/D proteins.
The study suggests a progressive loss of nuclear proteins and subsequent RNA processing problems including a novel gene relating to amyotrophic lateral sclerosis (NOP56) under the motor neuron degeneration.
Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined.
NOP56 ribonucleoprotein homolog
, nucleolar protein 56
, nucleolar protein 5A (56kDa with KKE/D repeat)
, 56kDa with KKE/D repeat
, nucleolar protein 5A