A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein.
about
ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy.Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2.Splicing arrays reveal novel RBM10 targets, including SMN2 pre-mRNA.Diverse role of survival motor neuron protein.How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophyActivation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene.A Multilayered Control of the Human Survival Motor Neuron Gene Expression by Alu Elements.Biology and clinical relevance of noncoding sno/scaRNAs.Intrinsic mechanisms of neuronal axon regeneration.Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes.
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P2860
A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 02 August 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A novel human-specific splice ...... Survival Motor Neuron protein.
@en
A novel human-specific splice ...... Survival Motor Neuron protein.
@nl
type
label
A novel human-specific splice ...... Survival Motor Neuron protein.
@en
A novel human-specific splice ...... Survival Motor Neuron protein.
@nl
prefLabel
A novel human-specific splice ...... Survival Motor Neuron protein.
@en
A novel human-specific splice ...... Survival Motor Neuron protein.
@nl
P2093
P2860
P356
P1433
P1476
A novel human-specific splice ...... Survival Motor Neuron protein.
@en
P2093
Brian M Lee
Eric W Ottesen
Joonbae Seo
Natalia N Singh
Ravindra N Singh
P2860
P2888
P356
10.1038/SREP30778
P407
P577
2016-08-02T00:00:00Z