Myelin synthesis in the peripheral nervous system

B Garbay, AM Heape, F Sargueil, C Cassagne - Progress in neurobiology, 2000 - Elsevier
By imposing saltatory conduction on the nervous impulse, the principal role of the myelin
sheath is to allow the faster propagation of action potentials along the axons which it …

Demyelinating and axonal features of Charcot–Marie–Tooth disease with mutations of myelin‐related proteins (PMP22, MPZ and Cx32): a clinicopathological study of …

N Hattori, M Yamamoto, T Yoshihara, H Koike… - Brain, 2003 - academic.oup.com
Three genes commonly causing Charcot–Marie–Tooth disease (CMT) encode myelin‐
related proteins: peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and …

Connexin mutations in X-linked Charcot-Marie-Tooth disease

J Bergoffen, SS Scherer, S Wang, MO Scott, LJ Bone… - Science, 1993 - science.org
X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with
demyelination. Recently, this disorder was mapped to chromosome Xq13. 1. The gene for …

Connexin32 is a myelin-related protein in the PNS and CNS

SS Scherer, SM Deschênes, Y Xu… - Journal of …, 1995 - Soc Neuroscience
We have examined the expression of a gap junction protein, connexin32 (Cx32), in
Schwann cells and oligodendrocytes. In peripheral nerve, Cx32 is found in the paranodal …

Functional gap junctions in the Schwann cell myelin sheath

RJ Balice-Gordon, LJ Bone, SS Scherer - The Journal of cell biology, 1998 - rupress.org
The Schwann cell myelin sheath is a multilamellar structure with distinct structural domains
in which different proteins are localized. Intracellular dye injection and video microscopy …

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length‐dependent axonal degeneration in the absence of demyelination and …

JY Garbern, DA Yool, GJ Moore, IB Wilds, MW Faulk… - Brain, 2002 - academic.oup.com
Axonal degeneration contributes to clinical disability in the acquired demyelinating disease
multiple sclerosis. Axonal degeneration occurs during acute attacks, associated with …

Connexin32‐null mice develop demyelinating peripheral neuropathy

SS Scherer, YT Xu, E Nelles, K Fischbeck, K Willecke… - Glia, 1998 - Wiley Online Library
Mutations in the gene encoding the gap junction protein connexin32 (Cx32) cause X‐linked
Charcot‐Marie‐Tooth disease (CMTX), a common form of inherited demyelinating …

AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy

A Kagiava, C Karaiskos, J Richter, C Tryfonos… - Gene therapy, 2021 - nature.com
Mutations in the GJB1 gene, encoding the gap junction (GJ) protein connexin32 (Cx32),
cause X-linked Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating …

New evidence for secondary axonal degeneration in demyelinating neuropathies

KR Moss, TS Bopp, AE Johnson, A Höke - Neuroscience letters, 2021 - Elsevier
Abstract Development of peripheral nervous system (PNS) myelin involves a coordinated
series of events between growing axons and the Schwann cell (SC) progenitors that will …

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

J Berciano, A García, E Gallardo, K Peeters… - Journal of …, 2017 - Springer
Abstract Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited
neuropathy with great variety of phenotypes, inheritance patterns, and causative genes …