Survival motor neuron gene transcript analysis in ...[Biochem Biophys Res Commun. 1995]

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1: Biochem Biophys Res Commun. 1995 Aug 4;213(1):342-8. Links

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B.

Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata, Roma, Italy.

We have identified and characterized four different mRNA isoforms of the survival motor neuron (SMN) gene from skeletal muscle of 9 SMA patients and 15 unaffected controls. These isoforms appear to be generated by combinatorial splicing of both exons 5 and 7 of the SMN telomeric and centromeric gene copies. The full-size and the truncated SMN-1b isoforms of the telomeric SMN copy are significantly reduced in muscle of SMA patients, irrespective of the disease types. Our results suggest that multiple RNA splicing is operative in the two SMN-related genes and that SMN-related polypeptides may be active in the muscle.

PMID: 7639755 [PubMed - indexed for MEDLINE]

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
Eur J Hum Genet. 2007 Oct; 15(10):1054-62. Epub 2007 Jul 4.

[Eur J Hum Genet. 2007]
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Hum Mutat. 2005 Jan; 25(1):64-71.

[Hum Mutat. 2005]
The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription.
Neurogenetics. 1999 Apr; 2(2):97-100.

[Neurogenetics. 1999]
ReviewTherapeutics development for spinal muscular atrophy.
NeuroRx. 2006 Apr; 3(2):235-45.

[NeuroRx. 2006]
ReviewMolecular and cellular basis of spinal muscular atrophy.
Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep; 4(3):144-9.

[Amyotroph Lateral Scler Other Motor Neuron Disord. 2003]
» See reviews... | » See all...

Cited by 12 PubMed Central articles

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice.
Hua Y, Vickers TA, Okunola HL, Bennett CF, Krainer AR. Am J Hum Genet. 2008 Apr; 82(4):834-48. Epub 2008 Mar 27.

[Am J Hum Genet. 2008]
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon.
Hua Y, Vickers TA, Baker BF, Bennett CF, Krainer AR. PLoS Biol. 2007 Apr; 5(4):e73.

[PLoS Biol. 2007]
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.
Setola V, Terao M, Locatelli D, Bassanini S, Garattini E, Battaglia G. Proc Natl Acad Sci U S A. 2007 Feb 6; 104(6):1959-64. Epub 2007 Jan 29.

[Proc Natl Acad Sci U S A. 2007]
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Cited by 12 PubMed Central articles

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