PK4C9 is a splice modulator of survival of motor neuron gene SMN2 that increases production of full-length SMN protein. Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency in SMN protein resulting from loss of expression of the SMN1 gene. The related SMN2 gene can compensate, but polymorphism in SMN2 often results in altered splicing and exclusion of exon 7, which is required for a full-length SMN transcript. PK4C9 binds to pentaloop conformations of the stem-loop RNA structure TSL2, a cis-regulatory element for E7 inclusion, and promotes a shift to triloop conformations that display enhanced E7 splicing. In SMA cells, PK4C9 increased E7 inclusion by 40% accompanied by a 1.5-fold increase in SMN protein, a level shown to reverse SMA phenotypes in mice models.
Splice modulator of survival of motor neuron gene SMN2 that increases production of full-length SMN protein.
Codice della classe di stoccaggio
11 - Combustible Solids
Classe di pericolosità dell'acqua (WGK)
WGK 3
Punto d’infiammabilità (°F)
Not applicable
Punto d’infiammabilità (°C)
Not applicable
Scegli una delle versioni più recenti:
Certificati d'analisi (COA)
Lot/Batch Number
It looks like we've run into a problem, but you can still download Certificates of Analysis from our Documenti section.
Modification of SMN2 exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA). However, a target-based approach to identify small-molecule E7 splicing modifiers has not been attempted, which could reveal novel therapies with improved mechanistic insight.
Domande
Recensioni
★★★★★ Nessuna valutazione
Filtri attivi
Il team dei nostri ricercatori vanta grande esperienza in tutte le aree della ricerca quali Life Science, scienza dei materiali, sintesi chimica, cromatografia, discipline analitiche, ecc..
