Concepedia

IgG deficiency and expansion of CTG repeats in myotonic dystrophy

P. Kaminsky, Jean‐François Lesesve, Philippe Jonveaux, L. Pruna

Clinical Neurology and Neurosurgery · 2011 · 22 citations · 32 references

DOI

Concepts

References

32

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

, , +8

Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy

Anne V. Philips, Lubov Timchenko, Thomas A. Cooper · Science · 1998 · 818 citations

, , +17

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

Rajesh S. Savkur, Anne V. Philips, Thomas A. Cooper · Nature Genetics · 2001 · 797 citations

, , +15

The protection receptor for IgG catabolism is the beta2-microglobulin-containing neonatal intestinal transport receptor.

Richard P. Junghans, Clark L. Anderson · Proceedings of the National Academy of Sciences · 1996 · 676 citations

, , +14

Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

Ami Mankodi, Masanori Takahashi, Hong Jiang et al. · Molecular Cell · 2002 · 666 citations · Full text

, , +13