Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular...
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disease characterized by defects of lower motor neurons. Approximately 95% of SMA patients are homozygous for
(
) gene deletion, while ~5% carry an intragenic
mutation. Here, we investigated the stability and oligomerization ability of mutated SMN1 proteins. Plasmi...
Alternative Titles
Full title
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8872419
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8872419
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes13020205
