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Research Digest
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| Mar. 02 |
Children Over 12 With SMA Excel at Applying Intelligence
Von Gontard A et al. Intelligence and cognitive function in children and adolescents with spinal muscular atrophy. Neuromuscul Disord. 2002 Feb;12(2):130-6. [PubMed abstract] |
| Mar. 02 |
SMA Tests Refined, Precautions Noted
Mailman M et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med. 2002 Jan-Feb;4(1):20-6. [PubMed abstract] |
| Mar. 02 |
SMA Drug Search Gains Ground [Quest] Andreassi C et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet. 2001 Nov 15;10(24):2841-9. [PubMed abstract] Zhang M et al. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther. 2001 Oct;8(20):1532-8. [PubMed abstract] Chang JG et al. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9808-13. [PubMed abstract] |
| Mar. 02 |
SMA: More than motor neurons?
Cifuentes-Diaz C et al. Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J Cell Biol. 2001 Mar 5; 152(5):1107-14. [PubMed abstract] [MDA Technical Summary] |
| Nov. 01 |
Flawed Gene Found for Rare Type of SMA
Grohmann K et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet. 2001 Sep;29(1):75-7. [PubMed abstract] [Quest] |
| Nov. 01 |
Vitamin deficiencies may worsen SMA
Friesen WJ et al. SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets. Mol Cell. 2001 May;7(5):1111-7. [PubMed abstract] [Quest] |
| Nov. 01 |
Sifting through SBMA stickiness
McCampbell A et al. CREB-binding protein sequestration by expanded polyglutamine. Hum Mol Genet. 2000 Sep 1;9(14):2197-202. [PubMed abstract] Nucifora FC et al. Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science. 2001 Mar 23;291(5512):2423-8. [PubMed abstract] [Quest] |
| July 01 |
Improved genetic testing for SMA
[MDA Technical Summary] Saugier-Veber P et al. Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method. Journal of Medical Genetics 2001 April;38:240-243. [Not indexed in PubMed] Mailman MD et al. Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome. Human Genetics 2001 Feb;108(2):109-15. [PubMed abstract] |
| July 01 |
New mouse model for Kennedy's disease (SBMA) Abel A et al. Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice. Hum Mol Genet. 2001 Jan 15;10(2):107-16. [PubMed abstract] [Press Release] |
| Nov. 00 |
SBMA Round-Up The latest thinking on protein aggregates and sensory involvement [MDA Technical Summary] |
| Nov. 00 |
Sterile Worms Lacking SMN Generate More Questions Than Answers Miguel-Aliaga I, et al. (1999): Then Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability. Human Molecular Genetics, 8(12):2133-2143. [PubMed abstract] [MDA Technical Summary] |
| Nov. 00 |
Mouse Model of SMA Highlights Potential of "Back-up" Gene to Compensate for Loss of primary SMN gene Monani UR et al. (2000): The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Human Molecular Genetics, .9(3):333-9. [PubMed abstract] [Quest] [Press Release] |
| Nov. 00 |
Researchers Identify Factor That Stimulates Production of Protein Missing in SMA Hofmann Y et al. (2000): Htra2-beta1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proceedings of the National Academy of Sciences, 97(17):9618-9623. [PubMed abstract] [MDA Technical Summary] |
| Sept. 99 |
Revised Diagnostic Criteria for Spinal Muscular Atrophy Zerres, K and Davies, KE (1999): 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria. April 17-19, 1998, Soestduinen, The Netherlands. Neuromuscular Disorders, 9:272-278. [No abstract available] [MDA Technical Summary] |
| Aug. 99 |
Another Role for the SMN Protein? Strasswimmer, J et al. (1999): Identification of survival motor neuron as a transcriptional activator binding protein. Human Molecular Genetics, 8(7):1219-1226. (MDA funded) [PubMed abstract] [Quest] |
| Aug. 99 |
Small Mutations Identified in the SMN1 Genes of People With SMA Who Lack Typical Deletions Wirth, B et al. (1999): Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. American Journal of Human Genetics, 64:1340-1356. [PubMed abstract] |
| Aug. 99 |
A Tiny Change With Major Consequences: Why SMN-C Can't Compensate for SMN-T in Spinal Muscular Atrophy
Lorsen, C et al. (1999): A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proceedings of the National Academy of Sciences, 96:6307-6311. (MDA funded) [PubMed abstract] AND Monani, UR et al. (1999): A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Human Molecular Genetics, 8(7):1177-1183. (MDA funded) [PubMed abstract] [MDA Technical Summary] [Quest] |
| Aug. 99 |
DNA Sequences That Regulate Gene Expression are Similar for the Two Almost Identical SMN Genes Echaniz-Laguna, A et al. (1999): The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements. American Journal of Human Genetics, 64(5):1365-1370. [PubMed abstract] |
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