...PMP22, MPZ, MFN2, TTR, EGR2, and CX32 (GJB1), which are implicated in Charcot-Marie-Tooth disease, Dejerine-Sottas syndr...
...PMP22 variants in transfected cells was correlated to disease severity. Twenty-four presumed disease-causing PMP22 varia...
...PMP22) gene. Emerging evidence suggests that lipid metabolism plays a central role in CMT1A pathology. This study invest...
...PMP22 partitioning and stabilized ordered domains. While discovered in a PMP22-focused screen, all three were seen to mo...
...Pmp22 upregulated, Ncam downregulated) and increased NGF protein expression via the PI3K pathway. Co-cultured PC12 cells...
...PMP22) gene. Respiratory problems are known to impact neuropathic patients, yet existing studies have not characterized ...
Pathogenic variants in the PMP22 gene can lead to hereditary peripheral demyelinating neuropathies of varying severity, ...
...PMP22 duplication (n = 2), EGR2 (n = 1), NEFL (n = 1), and PMP22 deletion (n = 1). At both time points, 85% of the patie...
...PMP22), suggesting shared pathophysiology. While the role of ABCA1 has not been investigated broadly in peripheral nerve...
...PMP22 and EGR2), with trophic effects sustained for up to 72 h. Conclusions: Ibudilast-primed 3D spheroids synergistical...
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