Spinal muscular atrophy

Journal of Inherited Metabolic Disease

Volumn 22, Issue 4, 1999, Pages 545-554

  Talbot, K ^a  

^a RADCLIFFE INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

CHILDHOOD; CHROMOSOME 5; CHROMOSOME DUPLICATION; CONFERENCE PAPER; DISABILITY; GENE CONVERSION; GENE DELETION; HUMAN; MODEL; MOLECULAR GENETICS; MUSCLE WEAKNESS; RNA PROCESSING; SPINAL MUSCULAR ATROPHY;

ANIMALS; CHILD; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; HUMANS; MOTOR NEURON DISEASE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; RNA; RNA-BINDING PROTEINS;

EID: 0033005549     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005516625866     Document Type: Conference Paper

References (38)

1. Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G (1996) Frameshift mutation in the survival motor neuron gene in a severe case of SMA Type I. Hum Mol Genet 5: 1971-1976 .
2. Brzustowicz LM, Lehner T, Castilla LH, et al (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to 5q11.2-13.3. Nature 344: 540-541.
3. Burglen L, Patel S, Dubowitz V, Melki J, Muntoni F (1996) A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy. In: Proceedings of First Congress of the World Muscle Society. Neuromusc Dis, S39.
4. Burglen L, Seroz T, Miniou P, et al (1997) The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large scale deletions associated with Werdnig-Hoffmann disease. Am J Hum Genet 60: 72-79.
5. Bussaglia E, Clermont O, Tizzano E, et al (1995) A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genetics 11: 335-337.
6. Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K (1997) Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 61: 40-50.
7. Carter T, Bonnemann C, Wang C, et al (1997) A multicopy transcription repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet 6: 229-236.
8. Coovert D, Thanh TL, McAndrew P, et al (1997) The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 6: 1205-1214.
9. Daniels RJ Campbell L, Rodrigues NR, et al (1995) Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele. J Med Genet 32: 93-96.
10. Dubowitz, V (1995) The spinal muscular atrophies. In Dubowitz V, ed. Muscle Disorders in Childhood, London: WB Saunders, 540.
11. Fischer U, Liu Q, Dreyfuss G (1997) The SMN-SIPI complex has an essential role in spliceosomal snRNP biogenesis. Cell 90: 1023-1029.
12. Francis MJ, Nesbit MA, Theodosiou AM, et al (1995) Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13. Genomics 27: 366-369.
13. Gao F-B (1998) Messenger RNAs in dendrites: localisation, stability, and implications for neuronal function. Bioessays 20: 70-78.
14. Gennarelli M, Lucarelli M, Capon F, et al (1995) Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 213: 342-348.
15. Gilliam TC, Brzustowicz IM, Castilla LH, et al (1990) Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345: 823-825.
16. Hahnen E, Forkert R, Marke C, et al (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4: 1927-1933.
17. Horn D, Suburo A, Terenghi G, Hudson L, Polak J, Latchman D (1992) Expression of the tissue specific splicing protein SmN in neuronal cell lines and in regions of the brain with different splicing capacities. Brain Res Mol Brain Res 16: 13-19.
18. Iwahashi H, Eguchi Y, Yasuhara N, Hanafusa T, Matsuzawa Y, Tsujimoto Y (1997) Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy. Nature 390: 413-417.
19. Lefebvre S, Burglen L, Reboullet S, et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 115-165.
20. Lefebvre S, Burlet P, Liu Q, et al (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genetics 16: 265-269.
21. Lin C, Bristol L, Jin L, et al (1998) Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 20: 589-602.
22. Liu Q, Dreyfuss, G (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J 15: 3555-3565.
23. Lorson C, Strasswimmer J, Yao JM, et al (1998) SMN oligomerisaton defect correlates with spinal muscular atrophy severity. Nature Genetics 19: 63-66.
24. McAndrew P, Parsons D, Simard L, et al (1997) Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNt and SMNc copy number. Am J Hum Genet 60: 1411-1422.
25. McKusick V (1994) Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders, 11th edn. Baltimore: Johns Hopkins University Press.
26. Melki J, Abdelhak S, Sheth P, et al (1990a) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344: 767-768.
27. Melki J, Sheth P, Abdelhak S, et al (1990b) Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. Lancet 336: 271-273.
28. Melki J, Lefebvre S, Burglen L, et al (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264: 1474-1477.
29. Oppenheim R (1991) Cell death during the development of the nervous system. Annu Rev Neurosci 14: 453-501.
30. Rodrigues NR, Campbell L, Owen N, Rodeck CH, Davies KE (1995a) Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis. Lancet 345: 1049.
31. Rodrigues NR, Owen N, Talbot K, et al (1995b) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4: 631-634.
32. Roy N, Mahadevan MS, McLean M, et al (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80: 167-178.
33. Rudnik-Schoneborn S, Rohrig D, Morgan G, Wirth B, Zerres K (1994) Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. Am J Med Genet 51: 70-76.
34. Talbot K, Ponting C, Theodosiou A, et al (1997) Missense mutation clustering in the survival motor neurone gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum Mol Genet 6: 497-500.
35. Tanabe Y, Jessell T (1996) Diversity and patterning in the developing spinal cord. Science 274: 1115-1123.
36. Theodosiou AM, Morrison KE, Nesbit MA, et al (1994) Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13. Am J Hum Genet 55: 1209-1217.
37. Velasco E, Valero C, Valero A, Moreno F, Hernandez CC (1996) Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet 5: 257-263.
38. Wirth B, Hahnen E, Morgan K, et al (1995) Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet 4: 1273-1284.