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Makoukji(Joelle),Belle(Martin),Meffre(Delp... Proc Natl Acad Sci U S A 2012-05-04

...PMP22 promoter activities, transcripts, and protein levels are stimulated by GSK3β inhibitors (LiCl and SB216763) in Sch...

Poitelon(Yannick),Kozlov(Serguei),Devaux(J... Neuromolecular Med 2012-07-20

...Pmp22 in Lmna (R298C/R298C) mice are still unclear, our results support a relation between Lmna and Pmp22 and constitute...

Verdier(Valérie),Csárdi(Gábor),de Preux-Ch... Glia 2012-11-19

...Pmp22, SCAP, or Lpin1, we found that the majority of age-related transcripts were also affected in myelin mutants (54.4%...

Braathen(G J),Sand(J C),Lobato(A),Høyer(H)... Eur J Neurol 2011-05-25

...PMP22) duplication and point mutation in the connexin32 (Cx32), myelin protein zero (MPZ) and mitofusin2 (MFN2) genes wa...

Gonzaga-Jauregui(Claudia),Zhang(Feng),Town... Neurogenetics 2011-01-18

...PMP22, GJB1 is the second CMT gene for which both point mutations and genomic rearrangements can cause a neuropathy phen...

Luigetti(M),Modoni(A),Renna(R),Silvestri(G... Clin Neurol Neurosurg 2011-02-08

...PMP22). Less frequently, mutations in the myelin protein zero gene (MPZ/P0) account for demyelinating CMT1B. Herein, we ...

Nicolaou(Paschalis),Zamba-Papanicolaou(Ele... Neuroepidemiology 2011-02-11

...PMP22 duplication, 3 families had the PMP22 S22F mutation, 4 families had GJB1/Cx32 mutations, 2 families had different ...

Lee(Jung Hwa),Kang(Hee Jin),Song(Hyunseok)... J Clin Neurol 2011-07-14

...PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated wit...

Sinkiewicz-Darol(Elena),Kabzińska(Dagmara)... Acta Biochim Pol 2011-01-20

...PMP22 gene may be responsible for the CMT1A/HNPP clinical variability. We have sequenced the PMP22 5' upstream regulator...

Cavalcanti(Francesca),Kidd(Thomas),Patituc... J Neurogenet 2011-12-27

...PMP22, SPARC/osteonectin, CD9, CD44, EEF1A1, and gamma-actin. These results suggest that axonal degeneration elicits a r...