𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

✍ Scribed by Khajavi, Mehrdad; Inoue, Ken; Lupski, James R

Book ID
110026650
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
123 KB
Volume
14
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Inhibition of nonsense-mediated mRNA dec
Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease
✍ Fusako Usuki; Akio Yamashita; Itsuro Higuchi; Tetsuo Ohnishi; Tadafumi Shiraishi 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 570 KB

## Abstract Nonsense‐mediated mRNA decay (NMD) is an mRNA surveillance system that eliminates aberrant mRNAs containing premature translation termination codons (PTCs). We evaluated the role of NMD in of Ullrich's disease. The patient has a frameshift mutation with a PTC in the collagen VI α2 gene

Expression of the muscle glycogen phosph
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay
✍ Gisela Nogales-Gadea; Juan Carlos Rubio; Israel Fernandez-Cadenas; Ines Garcia-C 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB

Nearly 35% of all mutations identified in the muscle glycogen phosphorylase gene (PYGM) in patients with McArdle disease result in premature termination codons (PTCs), particularly the p.R50X mutation. The latter accounts for more than 50% of the mutated alleles in most Caucasian patient populations