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  2. SMN1 - Wikipedia

    en.wikipedia.org/wiki/SMN1

    SMN1 and SMN2 are nearly identical and encode the same protein. [6] The critical sequence difference between the two is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. [6]

  3. Survival of motor neuron - Wikipedia

    en.wikipedia.org/wiki/Survival_of_motor_neuron

    Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes. SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. [2]

  4. Spinal muscular atrophy - Wikipedia

    en.wikipedia.org/wiki/Spinal_muscular_atrophy

    This approach aims at modifying the alternative splicing of the SMN2 gene to force it to code for higher percentage of full-length SMN protein. Sometimes it is also called gene conversion, because it attempts to convert the SMN2 gene functionally into SMN1 gene. It is the therapeutic mechanism of the approved medications nusinersen and risdiplam.

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    www.aol.com/lifestyle/austin-musician-casey...

    Spinal muscular atrophy now has a gene therapy treatment, given shortly after birth to introduce a new copy of the SMN1 gene. Babies now born with SMA are identified at birth and treated within a ...

  6. Onasemnogene abeparvovec - Wikipedia

    en.wikipedia.org/wiki/Onasemnogene_abeparvovec

    SMA is a neuromuscular disorder caused by a mutation in the SMN1 gene, which leads to a decrease in SMN protein, a protein necessary for survival of motor neurons. Onasemnogene abeparvovec is a biologic drug consisting of AAV9 virus capsids that contains a SMN1 transgene along with synthetic promoters. [5]

  7. Nusinersen - Wikipedia

    en.wikipedia.org/wiki/Nusinersen

    The drug is used to treat spinal muscular atrophy associated with a mutation in the SMN1 gene. It is administered directly to the central nervous system (CNS) using intrathecal injection. [4] In clinical trials, the drug halted the disease progression. In around 60% of infants affected by type 1 spinal muscular atrophy, it improves motor ...

  8. Epigenetics of neurodegenerative diseases - Wikipedia

    en.wikipedia.org/wiki/Epigenetics_of...

    SMN1 is located in a telomeric region of human chromosome 5 and also contains SMN2 in a centromeric region. SMN1 and SMN2 are nearly identical except for a single nucleotide change in SMN2 resulting in an alternative splicing site where intron 6 meets exon 8. This single base pair change leads to only 10–20% of SMN2 transcripts resulting in ...

  9. Small nuclear RNA - Wikipedia

    en.wikipedia.org/wiki/Small_nuclear_RNA

    Spinal muscular atrophy - Mutations in the survival motor neuron-1 (SMN1) gene result in the degeneration of spinal motor neurons and severe muscle wasting. The SMN protein assembles Sm-class snRNPs, and probably also snoRNPs and other RNPs. [16]