Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders.
Spinal muscular atrophy (SMA) is a devastating neuromuscular disease characterised by progressive loss of spinal motor neurons. Mutations in the genes underlying spontaneous bovine and feline models of SMA have recently been described. The clinical and pathological features of these disorders are si...
| Hlavní autoři: | , , , |
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| Médium: | Journal article |
| Jazyk: | English |
| Vydáno: |
2008
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| _version_ | 1826296400643620864 |
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| author | Parkinson, N Baumer, D Rose-Morris, A Talbot, K |
| author_facet | Parkinson, N Baumer, D Rose-Morris, A Talbot, K |
| author_sort | Parkinson, N |
| collection | OXFORD |
| description | Spinal muscular atrophy (SMA) is a devastating neuromuscular disease characterised by progressive loss of spinal motor neurons. Mutations in the genes underlying spontaneous bovine and feline models of SMA have recently been described. The clinical and pathological features of these disorders are similar to human forms of SMA making both genes excellent candidates in patients with motor neuron loss of no known aetiology. Here we report that a screen for mutations in coding regions and splice sites of the LIX1 and FVT1 genes in a cohort of 96 non-5q SMA patients and 119 familial and sporadic Amyotrophic Lateral Sclerosis patients identified no obvious pathogenic changes. This study indicates that mutations in these genes do not contribute significantly to the cause of motor neuron diseases in the human population. |
| first_indexed | 2024-03-07T04:15:45Z |
| format | Journal article |
| id | oxford-uuid:c959dd29-e8e2-4ddb-9edc-a11c7adf9d42 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T04:15:45Z |
| publishDate | 2008 |
| record_format | dspace |
| spelling | oxford-uuid:c959dd29-e8e2-4ddb-9edc-a11c7adf9d422022-03-27T06:58:32ZCandidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c959dd29-e8e2-4ddb-9edc-a11c7adf9d42EnglishSymplectic Elements at Oxford2008Parkinson, NBaumer, DRose-Morris, ATalbot, KSpinal muscular atrophy (SMA) is a devastating neuromuscular disease characterised by progressive loss of spinal motor neurons. Mutations in the genes underlying spontaneous bovine and feline models of SMA have recently been described. The clinical and pathological features of these disorders are similar to human forms of SMA making both genes excellent candidates in patients with motor neuron loss of no known aetiology. Here we report that a screen for mutations in coding regions and splice sites of the LIX1 and FVT1 genes in a cohort of 96 non-5q SMA patients and 119 familial and sporadic Amyotrophic Lateral Sclerosis patients identified no obvious pathogenic changes. This study indicates that mutations in these genes do not contribute significantly to the cause of motor neuron diseases in the human population. |
| spellingShingle | Parkinson, N Baumer, D Rose-Morris, A Talbot, K Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. |
| title | Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. |
| title_full | Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. |
| title_fullStr | Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. |
| title_full_unstemmed | Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. |
| title_short | Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. |
| title_sort | candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders |
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