Publications

Latest publication 03/27/2002

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in

Mutations of survival of the motor neuron gene (SMN1) are responsible for spinal muscular atrophy (SMA), a common genetic cause of death in...

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    [title] => Neurofilament accumulation at the motor endplate and lack of axonal sprouting in
    [paragraph] => Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model.
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Authors
C. Cifuentes-Diaz, S. Nicole, M. E. Velasco, C. Borra-Cebrian, C. Panozzo et al.

 Lab
Université d'Evry, GENOPOLE,  Institut National de la Santé et de la Recherche Médicale (INSERM), Molecular Neurogenetics Laboratory, Evry, France.
Journal
Human Molecular Genetics
Abstract
Mutations of survival of the motor neuron gene (SMN1) are responsible for spinal muscular atrophy (SMA), a common genetic cause of death in childhood. The cellular mechanism by which mutations of SMN1 are responsible for the selective neuromuscular defect and motor neuron cell degeneration observed in SMA has not been described. We have previously generated mice carrying a homozygous deletion of Smn exon 7 directed to neurons. We report here that these mutant mice display a dramatic and progressive loss of motor axons involving both proximal and terminal regions, in agreement with the skeletal muscle denervation process and disease progression. Moreover, we found massive accumulation of neurofilaments, including phosphorylated forms, in terminal axons of the remaining neuromuscular junctions. This aberrant cytoskeletal organization of synaptic terminals was associated with reduction of branched structures of the postsynaptic apparatus and defect of axonal sprouting in mutant mice. Together, these findings may be responsible for severe motor neuron dysfunction, and suggest that loss of motor neuron cell bodies results from a ‘dying-back’ axonopathy in SMA. Smn mutant mice should represent a valuable model for elucidating the pathway linking Smn to cytoskeletal organization.
BIOSEB Instruments Used
Aron Test or Four Plates Test (LE830),Rotarod (BX-ROD)
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The Four Plates Test is an exclusivity from BIOSEB!
The Aron test allows a quick characterization of putative anxiolytics compounds in naïve animals. A must for studying anxiety, drug screening and phenotyping.
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Rotarod provides an easy way to test the motor activity in rodents (mouse or rat) - an ideal solution for studying central nervous system damage, disease effects on motor activity, drugs administration, fatigue resistance, etc. Now even easier to use! The new touchscreen graphic user interface allows clear visualization of timing and speed for each lane. Change modes, adjust speed, and create protocols right from the main screen for greater flexibility with maximum functionality and usability

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