Zobrazeno 1 - 10
of 176
pro vyhledávání: '"Survival Motor Neuron, SMN"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-17 (2024)
Abstract Spinal muscular atrophy (SMA) genes, SMN1 and SMN2 (hereinafter referred to as SMN1/2), produce multiple circular RNAs (circRNAs), including C2A–2B–3–4 that encompasses early exons 2A, 2B, 3 and 4. C2A-2B-3-4 is a universally and abund
Externí odkaz:
https://doaj.org/article/7d6d0f64ce3f4042b7ff32505f5de059
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionThe U1 small nuclear RNA (snRNA) forms ribonucleoprotein particles (RNPs) such as U1 snRNP and U1-TAF15 snRNP. U1 snRNP is one of the most studied RNPs due to its critical role in pre-mRNA splicing in defining the 5′ splice site (5′ss
Externí odkaz:
https://doaj.org/article/17dea3230bf44639aa28ffc0eda8c236
Akademický článek
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Autor:
Karyka, E., Ramirez, N.B., Webster, C.P., Marchi, P.M., Graves, E.J., Godena, V.K., Marrone, L., Bhargava, A., Ray, S., Ning, K., Crane, H., Hautbergue, G.M., El-Khamisy, Sherif, Azzouz, M.
Yes
Spinal muscular atrophy, the leading genetic cause of infant mortality, is a motor neuron disease caused by low levels of survival motor neuron (SMN) protein. SMN is a multifunctional protein that is implicated in numerous cytoplasmic and nu
Spinal muscular atrophy, the leading genetic cause of infant mortality, is a motor neuron disease caused by low levels of survival motor neuron (SMN) protein. SMN is a multifunctional protein that is implicated in numerous cytoplasmic and nu
Externí odkaz:
http://hdl.handle.net/10454/19676
Autor:
Wilfried Rossoll, Ravindra N. Singh
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
Externí odkaz:
https://doaj.org/article/7de8661bee6e467bbd6347ba1764a483
Publikováno v:
Neurobiology of Disease, Vol 159, Iss , Pp 105488- (2021)
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by survival motor neuron (SMN) protein deficiency which results in motor neuron loss and muscle atrophy. SMA is caused by a mutation or deletion of the survival motor neuro
Externí odkaz:
https://doaj.org/article/94f018ebc9774928b368b6ccc95ccc71
Autor:
Francesco Errico, Carmen Marino, Manuela Grimaldi, Tommaso Nuzzo, Valentina Bassareo, Valeria Valsecchi, Chiara Panicucci, Elia Di Schiavi, Tommaso Mazza, Claudio Bruno, Adele D’Amico, Manolo Carta, Anna Maria D’Ursi, Enrico Bertini, Livio Pellizzoni, Alessandro Usiello
Publikováno v:
Biomolecules, Vol 12, Iss 10, p 1431 (2022)
Intrathecal delivery of Nusinersen–an antisense oligonucleotide that promotes survival motor neuron (SMN) protein induction–is an approved therapy for spinal muscular atrophy (SMA). Here, we employed nuclear magnetic resonance (NMR) spectroscopy
Externí odkaz:
https://doaj.org/article/ce83effeed5340a18bf7eb4ed8c9b6e4
Akademický článek
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Autor:
Emily Foran, Deborah Y. Kwon, Jonathan H. Nofziger, Eveline S. Arnold, Matthew D. Hall, Kenneth H. Fischbeck, Barrington G. Burnett
Publikováno v:
Neurobiology of Disease, Vol 88, Iss , Pp 118-124 (2016)
The development of therapeutics for neurological disorders is constrained by limited access to the central nervous system (CNS). ATP-binding cassette (ABC) transporters, particularly P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP),
Externí odkaz:
https://doaj.org/article/891d7a1cee84474a87764f91c4d60f2e
Publikováno v:
Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 5-14 (2015)
Neurodegenerative disorders are commonly encountered in medical practices. Such diseases can lead to major morbidity and mortality among the affected individuals. The molecular pathogenesis of these disorders is not yet clear. Recent literature has r
Externí odkaz:
https://doaj.org/article/564ecba8b2ab45e0b21c361b20fda71e