In VitroRestoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement

2005 ◽  
Vol 16 (7) ◽  
pp. 869-880 ◽  
Author(s):  
Federica Sangiuolo ◽  
Antonio Filareto ◽  
Paola Spitalieri ◽  
Maria Lucia Scaldaferri ◽  
Ruggiero Mango ◽  
...  
2005 ◽  
Vol 0 (0) ◽  
pp. 050701034702010
Author(s):  
Federica Sangiuolo ◽  
Antonio Filareto ◽  
Paola Spitalieri ◽  
Maria Lucia Scaldaferri ◽  
Ruggiero Mango ◽  
...  

2007 ◽  
Vol 197 (6) ◽  
pp. S172
Author(s):  
Kathryn Drennan ◽  
Adrian Platts ◽  
Amelia Linneman ◽  
Graham Johnson ◽  
Stephen Krawetz

Neurology ◽  
2006 ◽  
Vol 66 (7) ◽  
pp. 1067-1073 ◽  
Author(s):  
C. J. Sumner ◽  
S. J. Kolb ◽  
G. G. Harmison ◽  
N. O. Jeffries ◽  
K. Schadt ◽  
...  

Background: Clinical trials of drugs that increase SMN protein levels in vitro are currently under way in patients with spinal muscular atrophy.Objective: To develop and validate measures of SMN mRNA and protein in peripheral blood and to establish baseline SMN levels in a cohort of controls, carriers, and patients of known genotype, which could be used to follow response to treatment.Methods: SMN1 and SMN2 gene copy numbers were determined in blood samples collected from 86 subjects. Quantitative reverse transcription PCR was used to measure blood levels of SMN mRNA with and without exon 7. A cell immunoassay was used to measure blood levels of SMN protein.Results: Blood levels of SMN mRNA and protein were measured with high reliability. There was little variation in SMN levels in individual subjects over a 5-week period. Levels of exon 7-containing SMN mRNA and SMN protein correlated with SMN1 and SMN2 gene copy number. With the exception of type I SMA, there was no correlation between SMN levels and disease severity.Conclusion: SMN mRNA and protein levels can be reliably measured in the peripheral blood and used during clinical trials in spinal muscular atrophy, but these levels do not necessarily predict disease severity.


2004 ◽  
Vol 68 (2) ◽  
pp. 313-321 ◽  
Author(s):  
Fumie Hashimoto ◽  
Yoshinobu Oguchi ◽  
Mieko Morita ◽  
Kikumi Matsuoka ◽  
Satoru Takeda ◽  
...  

2018 ◽  
Vol 56 (6) ◽  
pp. 4414-4427 ◽  
Author(s):  
Sandra de la Fuente ◽  
Alba Sansa ◽  
Ambika Periyakaruppiah ◽  
Ana Garcera ◽  
Rosa M. Soler

2009 ◽  
Vol 392 (2) ◽  
pp. 301-318 ◽  
Author(s):  
Amandine Vargas ◽  
Julie Moreau ◽  
Sébastien Landry ◽  
Frédérique LeBellego ◽  
Chirine Toufaily ◽  
...  

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