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eGene Inc. has announced that a research article regarding their HDA-GT12™ was published in Clinical Chemistry's March 2006 issue titled "Determination of SMN1/SMN2 Gene Dosage by a Quantitative ...
Whereas SMN1 controls nearly all of our body’s SMN production, SMN2 makes around 10% of what SMN1 produces. SMA occurs when both copies of a person’s SMN1 gene have a mutation.
Serendipitously, humans also encode gene called SMN2 that is similar to SMN1. In a study published in Nature Biomedical Engineering, a research team led by Christiano Alves, ...
The SMN1 gene is located in the telomeric part of the 5q13.2 segmental duplication, whereas 99% identical SMN2 gene resides in its centromeric part. 3 Consequently, the absence of the SMN1 gene ...
Chen X, harting J, Farrow E, et al. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. Am J Hum Gen . 2023;110(2):240-250. doi:10. ...
Diagnostic tests. The first test in such a patient is a genetic test to detect the SMN1 gene homozygous deletion, namely, a missing SMN1 exon 7 with or without a missing exon 8. This is almost 95% ...
When delivered with AAV serotype 9 (AAV9) into SMA mice that lacked working Smn1 and had the defective human SMN2 gene, the AAV9 efficiently delivered the base editor into 43% of spinal motor neurons.
Amsterdam, November 7, 2022 – Spinal muscular atrophy (SMA), the most common form of neurodegenerative disease in childhood, is caused by defects in the SMN1 gene. SMA patients potentially ...
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy.Scientists ...
The SMN2 gene is present in all patients with SMA, whereas the more commonly targeted SMN1 gene may be mutated or gone entirely. The results, the researchers say, bode well. Related.
Types 1 through 4 are linked to a mutation in both copies of the SMN1 gene (on chromosome 5), ... This can be partially ...