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Spinal muscular atrophy and the Antiapoptotic role of Survival of Motor Neuron (SMN) protein
Journal article   Peer reviewed

Spinal muscular atrophy and the Antiapoptotic role of Survival of Motor Neuron (SMN) protein

R.S. Anderton, B.P. Meloni, F.L. Mastaglia and S. Boulos
Molecular Neurobiology, Vol.47(2), pp.821-832
2013
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Abstract

Spinal muscular atrophy (SMA) is a devastating and often fatal neurodegenerative disease that affects spinal motor neurons and leads to progressive muscle wasting and paralysis. The survival of motor neuron (SMN) gene is mutated or deleted in most forms of SMA, which results in a critical reduction in SMN protein. Motor neurons appear particularly vulnerable to reduced SMN protein levels. Therefore, understanding the functional role of SMN in protecting motor neurons from degeneration is an essential prerequisite for the design of effective therapies for SMA. To this end, there is increasing evidence indicating a key regulatory antiapoptotic role for the SMN protein that is important in motor neuron survival. The aim of this review is to highlight key findings that support an antiapoptotic role for SMN in modulating cell survival and raise possibilities for new therapeutic approaches.

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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.255 Musculoskeletal Disorders
1.255.2204 Spinal Muscular Atrophy
Web Of Science research areas
Neurosciences
ESI research areas
Neuroscience & Behavior
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