نتایج جستجو برای: survival motor neuron gene

تعداد نتایج: 1595196  

Journal: :iranian journal of child neurology 0
m.r. salehi omran pediatric neurologist,babol university of medical sciences a. ghabeli juibary general physician

abstract objective autosomal recessive spinal muscular atrophy (sma) is, after cystic fibrosis, the second most common fatal monogenic disorder and the second most common hereditary neuromuscular disease after duchenne dystrophy. the disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. depending on the clinical type (werdnig- ho...

Journal: :Archives of Iranian medicine 2007
Iman Salahshourifar Yousef Shafeghati Zahra Golkar Hossein Najmabadi

BACKGROUND Spinal muscular atrophy is an autosomal recessive disorder characterized by degeneration of anterior horn cells in the spinal cord leading to progressive muscular weakness and atrophy. The spinal muscular atrophy candidate interval genes including survival motor neuron, the responsible gene in spinal muscular atrophy phenotype expression, neuronal apoptosis inhibitory protein, and P4...

Objective(s): Cell therapy has provided clinical applications to the treatment of motor neuron diseases. The current obstacle in stem cell therapy is to direct differentiation of stem cells into neurons in the neurodegenerative disorders. Biomaterial scaffolds can improve cell differentiation and are widely used in translational medicine and tissue engineering. The aim...

2013
Kevin H.J. Park Sonia Franciosi Blair R. Leavitt

MyoD and myogenin are myogenic transcription factors preferentially expressed in adult fast and slow muscles, respectively. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder in which motor neuron loss is accompanied by muscle denervation and paralysis. Studies suggest that muscle phenotype may influence ALS disease progression. Here we demonstrate that myogenin gene transfer i...

Journal: :Human molecular genetics 2013
James P Van Meerbeke Rebecca M Gibbs Heather L Plasterer Wenyan Miao Zhihua Feng Ming-Yi Lin Agnieszka A Rucki Claribel D Wee Bing Xia Shefali Sharma Vincent Jacques Darrick K Li Livio Pellizzoni James R Rusche Chien-Ping Ko Charlotte J Sumner

Spinal muscular atrophy (SMA) is caused by mutations of the survival motor neuron 1 (SMN1) gene, retention of the survival motor neuron 2 (SMN2) gene and insufficient expression of full-length survival motor neuron (SMN) protein. Quinazolines increase SMN2 promoter activity and inhibit the ribonucleic acid scavenger enzyme DcpS. The quinazoline derivative RG3039 has advanced to early phase clin...

Journal: :Proceedings of the National Academy of Sciences 2000

Journal: :Journal of Down Syndrome & Chromosome Abnormalities 2017

Journal: :genetics in the 3rd millennium 0
seyedeh sedigheh abedini maryam azad mandana hassanzad kimia kahrizi hossein najmabadi

spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous deletion of the survival motor neuron gene 1 (smn1) in more than 90% of patients. according to the age of onset and severity of the disease, sma is classified into three groups: type i (severe), type ii (intermediate) and type iii (mild). as reported, the smn2 gene, centromeric copy gene, showed ...

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