Animal Models of spinal muscular atrophy

Human Molecular Genetics

Volumn 9, Issue 16 REV. ISS., 2000, Pages 2451-2457

  Monani, Umrao R ^a   Coovert, Daniel D ^a   Burghes, Arthur H M ^a,b  

^a OHIO STATE UNIVERSITY   (United States)

^b 363 Hamilton Hall ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; DISEASE MODEL; EXPERIMENTAL ANIMAL; GENE ISOLATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC LINKAGE; INFANT MORTALITY; LEG MUSCLE; MEDICAL RESEARCH; MOLECULAR GENETICS; MOTOR NEURON DISEASE; MOUSE; MUSCLE DISEASE; NEUROMUSCULAR DISEASE; NONHUMAN; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE; SPINAL MUSCULAR ATROPHY; SYMPTOMATOLOGY; TREATMENT PLANNING;

ANIMALIA;

EID: 0033765283     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.16.2451     Document Type: Review

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14. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
15. Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region
16. A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene
17. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy
18. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
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20. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients
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27. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
28. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
29. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene
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40. A novel nuclear structure containing the survival motor neurons protein
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42. SMN oligomerization defect correlates with spinal muscular atrophy
43. The region of the SMN protein encoded by exon 2b is involved in self-association and SIP-1 binding
44. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
45. The spinal muscular atrophy disease gene product, SMN, and its associated protein, SIP-1, are in a complex with spliceosomal snRNP proteins
46. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
47. Gemin 3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems
48. Gemin 4: A novel component of the SMN complex that is found in both gems and nucleoli
49. Direct interaction of Smn with dp103, a putative RNA helicase: A role for Smn in transcription regulation
50. Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: Implications for spinal muscular atrophy
51. Identification of survival motor neuron as a transcriptional activator-binding protein
52. The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain
53. A role for polyproline motifs in the spinal muscular atrophy protein SMN
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57. cDNA isolation, expression and chromosomal localization of the mouse survival motor neuron gene (Smn)
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60. A mouse model for spinal muscular atrophy
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65. The mouse mutation muscle deficient (mdf) is characterized by a progressive motor neuron disease
66. Hereditary canine spinal muscular atrophy
67. Animal models of amyotrophic lateral sclerosis and the spinal muscular atrophies
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70. The Caenorhabditis elegans orthologue of the human SMN gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability