Skeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA) (Q27312220)

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Europe PubMed Central

11 June 2022

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cites work

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

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Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction

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Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

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Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.

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Purification of the human SMN-GEMIN2 complex and assessment of its stimulation of RAD51-mediated DNA recombination reactions

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The spinal muscular atrophy mouse model, SMAΔ7, displays altered axonal transport without global neurofilament alterations.

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

28 September 2017

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Correlation between severity and SMN protein level in spinal muscular atrophy

28 September 2017

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The natural history of type I (severe) spinal muscular atrophy

28 September 2017

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28 September 2017

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RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

28 September 2017

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

28 September 2017

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Muscle could be the therapeutic target in SMA treatment

31 May 2018

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Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

31 May 2018

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The neurobiology of childhood spinal muscular atrophy.

31 May 2018

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31 May 2018

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INFANTILE MUSCULAR ATROPHY. A PROSPECTIVE STUDY WITH PARTICULAR REFERENCE TO A SLOWLY PROGRESSIVE VARIETY

31 May 2018

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Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord

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Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients.

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Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

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Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

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A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein.

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The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

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Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

28 November 2018

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Identifiers

DOI

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release_lawqb6a4zbar7kpclopzzb5tga

0 references

0 references

3529143

1 reference

1 reference

3529143

PubMed publication ID

24667816

1 reference