Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by deletion or mutation ofSMN1(survival motor neuron 1).SMNexon 7 splicing is regulated by a number of exonic and intronic regulatory sequences and the trans-factors that bind them. Variants located in o...
Gianna Ulzi1, Serena Pagliarani1, Federica Rizzo1, Emanuele Frattini1, Franco Pagani2, Nereo Bresolin1, Giacomo Comi1 & Stefania Corti1 Spinal muscular atrophy (SMA) is a primary genetic cause of infant mortality due to mutations in the Survival Motor Neuron (SMN) 1 gene...
2009. Less is more: therapeutic exon skipping for Duchenne muscular dystrophy. Lancet neurology; 8(10):873-5.Aartsma-Rus A, van Ommen GJ. Less is more: therapeutic exon skipping for Duchenne muscular dystrophy. Lancet Neurol 2009;8:873-5....
AveXis is a clinical-stage gene therapy company developing treatments for rare and life-threatening neurological genetic diseases. The company's initial product candidate, scAAV9.CB.SMN, is in an ongoing Phase 1 clinical trial for the treatment of spinal muscular atrophy (SMA) Type 1, an autos...
Spinal muscular atrophy (SMA) is a group of hereditary diseases that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy. What ...
The neuromuscular disorder spinal muscular atrophy (SMA), the most common inherited killer of infants, is caused by insufficient expression of survival motor neuron (SMN) protein. SMA therapeutics development efforts have focused on identifying strategies to increase SMN expression. We identified a long...
Spinal muscular atrophy (SMA) is the second most common autosomal recessive disease (after cystic fibrosis) and the second most common neuromuscular disease (after muscular dystrophy). We used electron-microscopical (EM) analysis as well as TUNEL and ISEL methods to assess DNA fragmentation, and im...
LGDLow-Grade Dysplasia(abnormal cells, such as those found when doing a biopsy) LGDLivestock Guardian Dog LGDLaboratory of Genomic Diversity LGDLou Gehrig's Disease(Amyotrophic Lateral Sclerosis) LGDLooking Glass Design(various organizations)
Experiments on mice have shown that CRISPR can disable a defective gene associated with Duchenne muscular dystrophy (DMD), inhibit the formation of deadly proteins involved in Huntington’s disease, and eliminate an HIV infection.In 2015, Chinese scientists created super muscular beagles by disabling ...
However, it antagonizes various TGF-β superfamily members, such as myostatin, and in fact, its clinical application has been intensively studied regarding Duchenne muscular dystrophy45. Developing a ligand trap (follistatin-based) specific for ActA would constitute a breakthrough in the treatment of ...