SMN1

Isis Pharmaceuticals will test its experimental antisense drug in 24 children with spinal muscular atrophy at five U.S. centers

posted on January 2, 2012 - 6:00am
A 24-person, phase 1 trial to test the safety and tolerability of the experimental drug ISIS-SMNRx in children with spinal muscular atrophy (SMA) is now open at Columbia University Medical Center in New York, with additional sites expected to open in Boston, Philadelphia, Dallas and Salt Lake City.

Mice with a severe SMA-like disease that were injected with a synthetic "antisense" molecule developed bigger, more structurally sound muscles than untreated mice

posted on March 15, 2011 - 1:31pm
A team of research scientists has found that mice with a disease resembling a severe form of spinal muscular atrophy (SMA) that were treated with a gene-modifying molecule produced more of a needed protein throughout their spinal cords; developed bigger, stronger muscles; and survived longer than expected. 

Preserving a shortened version of the SMN protein rescued SMN-deficient cells, opening the door to a possible new therapeutic strategy

posted on March 17, 2010 - 4:26pm
A research team at the University of Pennsylvania in Philadelphia has characterized the mechanism responsible for rapid decay of the survival of motor neurons (SMN) protein that is encoded by the human SMN2 gene and which plays a key role in a variety of therapeutic strategies under development for spinal muscular atrophy (SMA). 

Researchers have identified a compound that helps cells produce more full-length SMN protein from the backup SMN2 gene.

posted on November 6, 2009 - 1:19pm
Scientists have identified a chemical cousin of the commonly used antibiotic tetracycline that has the potential to be refined and modified into a therapy for spinal muscular atrophy (SMA). PTK-SMA1 works by correcting an error in a cellular process called RNA splicing, and leads to increased production of a critical protein that is deficient in this disease.

A variant in the SMN2 gene leads to more full-length SMN protein and better function

posted on September 29, 2009 - 1:34pm
Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

 A variant in the SMN2 gene leads to more full-length SMN protein and better function

posted on September 29, 2009 - 10:46am
Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.
posted on April 1, 2009 - 7:08am
QUEST Vol. 16, No. 2