Anticorps SMN (H-7): sc-137200

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord. SMA is caused by deletion or loss-of-function mutations of SMN (survival of motor neuron) gene. SMN, also known as Gemin1, SMN1, SMNT and BCD541, exists as four isoforms produced by alternative splicing. SMN is oligomeric and forms a complex with Gemin2 (formerly SIP1), Gemin3 (a DEAD box RNA helicase), Gemin4, Gemin5 and Gemin6, as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in splicesomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (gemini of the coiled bodies). Cytoplasmic SMN interacts with spliceosomal Sm proteins and facilitates their assembly onto U snRNAs, and nuclear SMN mediates recycling of pre-mRNA splicing factors. Nearly identical telomeric and centromeric forms of SMN encode the same protein; however, only mutations in the telomeric form are associated with the disease-state SMA. SMN is expresed in a wide variety of tissues including brain, kidney, liver, spinal cord and moderately in skeletal and cardiac muscle.

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Anticorps SMN (H-7) Références:

1. Le complexe SMN: une machine à assembler les RNP.  |  Battle, DJ., et al. 2006. Cold Spring Harb Symp Quant Biol. 71: 313-20. PMID: 17381311
2. Fonctions moléculaires du complexe SMN.  |  Kolb, SJ., et al. 2007. J Child Neurol. 22: 990-4. PMID: 17761654
3. SMN dans l'atrophie musculaire spinale et la biogenèse des snRNP.  |  Coady, TH. and Lorson, CL. 2011. Wiley Interdiscip Rev RNA. 2: 546-64. PMID: 21957043
4. Atrophie musculaire spinale: rôle de SMN dans la régulation de l'ARNm axonal.  |  Fallini, C., et al. 2012. Brain Res. 1462: 81-92. PMID: 22330725
5. Composés induisant le SMN pour le traitement de l'atrophie musculaire spinale.  |  Lorson, MA. and Lorson, CL. 2012. Future Med Chem. 4: 2067-84. PMID: 23157239
6. SMN régule la traduction locale des axones via la voie miR-183/mTOR.  |  Kye, MJ., et al. 2014. Hum Mol Genet. 23: 6318-31. PMID: 25055867
7. Régulation développementale de l'expression du SMN: implications physiopathologiques et perspectives pour le développement de thérapies dans l'atrophie musculaire spinale.  |  Jablonka, S. and Sendtner, M. 2017. Gene Ther. 24: 506-513. PMID: 28556834
8. Le rôle de la protéine de survie du motoneurone (SMN) dans l'homéostasie des protéines.  |  Chaytow, H., et al. 2018. Cell Mol Life Sci. 75: 3877-3894. PMID: 29872871
9. Une approche combinatoire augmente le niveau de SMN chez les souris modèles de SMA.  |  Dumas, SA., et al. 2022. Hum Mol Genet. 31: 2989-3000. PMID: 35419606
10. Cas de microangiopathie thrombotique fatale suite à une thérapie génique SMN virale adéno-associée.  |  Guillou, J., et al. 2022. Blood Adv. 6: 4266-4270. PMID: 35584395

L'anticorps SMN préféré est l'Anticorps SMN (2B1): sc-32313.