نتایج جستجو برای: survival motor neuron protein

تعداد نتایج: 1684030  

2016
Phillip Zaworski Katharine M. von Herrmann Shannon Taylor Sara S. Sunshine Kathleen McCarthy Nicole Risher Tara Newcomb Marla Weetall Thomas W. Prior Kathryn J. Swoboda Karen S. Chen Sergey Paushkin

Spinal muscular atrophy (SMA) is caused by defects in the survival motor neuron 1 (SMN1) gene that encodes survival motor neuron (SMN) protein. The majority of therapeutic approaches currently in clinical development for SMA aim to increase SMN protein expression and there is a need for sensitive methods able to quantify increases in SMN protein levels in accessible tissues. We have developed a...

Journal: :Human molecular genetics 2015
Hansjörg Rindt Zhihua Feng Chiara Mazzasette Jacqueline J Glascock David Valdivia Noah Pyles Thomas O Crawford Kathryn J Swoboda Teresa N Patitucci Allison D Ebert Charlotte J Sumner Chien-Ping Ko Christian L Lorson

Systemically low levels of survival motor neuron-1 (SMN1) protein cause spinal muscular atrophy (SMA). α-Motor neurons of the spinal cord are considered particularly vulnerable in this genetic disorder and their dysfunction and loss cause progressive muscle weakness, paralysis and eventually premature death of afflicted individuals. Historically, SMA was therefore considered a motor neuron-auto...

Journal: :The Malaysian journal of medical sciences : MJMS 2017
Tan Yew Chin Sim Sze Kiat Hizal Ghazali Faizul Wutian Wu Jafri Malin Abdullah

BACKGROUND The neuroprotective role of minocycline in the treatment of brachial plexus injury is controversial. OBJECTIVE To study the neuroprotective effect of minocycline via different routes in adult Sprague Dawley rats with brachial plexus injury. METHODS The C7 nerve roots of the animals were avulsed via an anterior extravertebral approach. Traction force was used to transect the ventr...

Journal: :Human molecular genetics 2012
Paul N Porensky Chalermchai Mitrpant Vicki L McGovern Adam K Bevan Kevin D Foust Brain K Kaspar Stephen D Wilton Arthur H M Burghes

Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by α-motor neuron loss in the spinal cord anterior horn. SMA results from deletion or mutation of the Survival Motor Neuron 1 gene (SMN1) and retention of SMN2. A single nucleotide difference between SMN1 and SMN2 results in exclusion of exon 7 from the majority of SMN2 transcripts, leading to decreased SMN protein l...

Journal: :Cellular and Molecular Life Sciences 2021

Abstract Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease of variable clinical severity that caused by mutations in the survival 1 ( SMN1 ) gene. Despite its name, SMN a ubiquitous protein functions within and outside nervous system has multiple cellular roles transcription, translation, proteostatic mechanisms. Encouragingly, several SMN-directed therapies have rece...

Journal: :Human molecular genetics 2000
L Campbell K M Hunter P Mohaghegh J M Tinsley M A Brasch K E Davies

Spinal muscular atrophy is an autosomal recessive neurodegenerative disease of childhood, resulting from deletion or mutation of the survival motor neuron ( SMN ) gene on chromosome 5q13. SMN exists as part of a 300 kDa multi-protein complex, incorporating several proteins critically required in pre-mRNA splicing. Although SMN mutations render SMN defective in this role, the specific alpha-moto...

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