Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

J Neurol. 2010 May 12 Lee YC, Lin KP, Chang MH, Liao YC, Tsai CP, Liao KK, Soong BW. Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC. Abstract Mutations in MPZ, which encodes myelin protein zero Continue reading Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

Decoding DNA

PBS’ To the Contrary, hosted by Bonnie ErbĂ©, has developed a three-part series called “Decoding DNA: Helping Children With Rare Diseases.” The program looks at genetic mapping and finding cures for children with rare diseases like Charcot-Marie-Tooth Disease. To view Continue reading Decoding DNA

Turning Back The Clock For Schwann Cells

Myelin-making Schwann cells have an ability every aging Hollywood star would envy: they can become young again. According to a study appearing in the May 19 issue of the Journal of Cell Biology, David B. Parkinson (University College London, London, Continue reading Turning Back The Clock For Schwann Cells

1996 article from New York Times archives explains P0 mutation in Dejerine-Sottas

The New York Times recently digitized its pre-Internet archives and opened them to the public, so today I ran a search and found a single mention of Dejerine-Sottas disease. It’s an interesting article on the use of x-ray crystallography to Continue reading 1996 article from New York Times archives explains P0 mutation in Dejerine-Sottas

Probing Myelin Protein Zero Gain of Function Mutants

Lawrence Wrabetz, Maurizio D’Antonio, Maria Pennuto, Gabriele Dati, Elisa Tinelli, Pietro Fratta, Stefano Previtali, Daniele Imperiale, Jurgen Zielasek, Klaus Toyka, Robin L. Avila, Daniel A. Kirschner, Albee Messing, M. Laura Feltri, and Angelo Quattrini The P0 glycoprotein is the most Continue reading Probing Myelin Protein Zero Gain of Function Mutants

Clinicopathological and genetic study of early-onset demyelinating neuropathy

Bit of bad news here: researchers studied 20 people with Dejerine-Sottas, CMT4 and other related diseases, and found several new mutations. Abstract from Brain. 2004 Oct 6 Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams Continue reading Clinicopathological and genetic study of early-onset demyelinating neuropathy