Detection of novel mutations in the SMN Tudor domain in type I SMA patients

Neurology
I CuscóE F Tizzano

Abstract

The authors present a complete SMN gene analysis in four type I unrelated spinal muscular atrophy patients who retained one copy of the SMN1 gene. Two intragenic point mutations were identified in exon 3 (I116F, Q136E), affecting a very conserved region with the Tudor domain of SMN1. The remaining two patients showed no alterations in the SMN1 coding sequences although a transcription defect was detected in one of them, corroborating the existence of non-functional SMN1 genes.

Citations

Jul 9, 2009·Nature Reviews. Neuroscience·Arthur H M Burghes, Christine E Beattie
Apr 29, 2005·Cell Research·Travis Thomson, Paul Lasko
Mar 31, 2009·Human Molecular Genetics·Eileen WorkmanArthur H M Burghes
Nov 23, 2005·Proceedings of the National Academy of Sciences of the United States of America·Karl B Shpargel, A Gregory Matera
May 23, 2014·Neuromuscular Disorders : NMD·Maria JędrzejowskaIrena Hausmanowa-Petrusewicz
Jul 30, 2014·Future Medicinal Chemistry·Matthew D HowellRavindra N Singh
Mar 4, 2014·Biochimica Et Biophysica Acta·Sitaram Gayatri, Mark T Bedford
May 4, 2005·Molecular Cell·Mark T Bedford, Stéphane Richard
Jan 20, 2009·Molecular Cell·Mark T Bedford, Steven G Clarke
Feb 19, 2011·Genetic Testing and Molecular Biomarkers·Miguel Gonçalves-RochaRosário Santos
Jun 16, 2005·The Journal of Biological Chemistry·Jocelyn Côté, Stéphane Richard
Aug 31, 2017·Human Genetics·Catherine E DominguezDawn S Chandler
Jun 7, 2018·Cellular and Molecular Life Sciences : CMLS·Helena ChaytowKiterie M E Faller
Oct 17, 2020·Neurology. Genetics·Rodrigo de Holanda MendonçaEdmar Zanoteli
Aug 28, 2021·International Journal of Molecular Sciences·Mar Costa-RogerEduardo F Tizzano
Aug 28, 2021·International Journal of Molecular Sciences·Anton J BlatnikArthur H M Burghes

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cajal Bodies & Gems

Cajal bodies or coiled bodies are dense foci of coilin protein. Gemini of Cajal bodies, or gems, are microscopically similar to Cajal bodies. It is believed that Cajal bodies play important roles in RNA processing while gems assist the Cajal bodies. Find the latest research on Cajal bodies and gems here.