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 …

How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

KA Kleopa, CK Abrams, SS Scherer - Brain research, 2012 - Elsevier
The X-linked form of Charcot–Marie–Tooth disease (CMT1X) is the second most common
form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by …

[HTML][HTML] Gap junctions in inherited human disorders of the central nervous system

CK Abrams, SS Scherer - Biochimica et Biophysica Acta (BBA) …, 2012 - Elsevier
CNS glia and neurons express connexins, the proteins that form gap junctions in
vertebrates. We review the connexins expressed by oligodendrocytes and astrocytes, and …

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects

I Sargiannidou, N Vavlitou, S Aristodemou… - Journal of …, 2009 - Soc Neuroscience
The gap junction (GJ) protein connexin32 (Cx32) is expressed by myelinating Schwann
cells and oligodendrocytes and is mutated in X-linked Charcot-Marie-Tooth disease. In …

Cx32 and Cx47 mediate oligodendrocyte: astrocyte and oligodendrocyte: oligodendrocyte gap junction coupling

SK Wasseff, SS Scherer - Neurobiology of disease, 2011 - Elsevier
In addition to the extensive gap junction coupling between astrocytes themselves,
oligodendrocytes are thought to be exclusively coupled to astrocytes (O: A coupling) via …

Connexins and pannexins: new insights into microglial functions and dysfunctions

R Gajardo-Gómez, VC Labra… - Frontiers in molecular …, 2016 - frontiersin.org
Under physiological conditions, microglia adopt a resting phenotype associated with the
production of anti-inflammatory and neurotrophic factors. In response to a wide variety of …

A review of X-linked Charcot-Marie-Tooth disease

Y Wang, F Yin - Journal of child neurology, 2016 - journals.sagepub.com
X-linked Charcot-Marie-Tooth disease (CMTX) is the second common genetic variant of
CMT. CMTX type 1 causes 90% of CMTX. The most important clinical features of CMTX are …

Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy

A Kagiava, C Karaiskos, G Lapathitis… - … Therapy-Methods & …, 2023 - cell.com
X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) is a demyelinating neuropathy
resulting from loss-of-function mutations affecting the GJB1/connexin 32 (Cx32) gene. We …

What's the function of connexin 32 in the peripheral nervous system?

M Bortolozzi - Frontiers in molecular neuroscience, 2018 - frontiersin.org
Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its
mutations cause the X-linked form of Charcot–Marie–Tooth disease (CMT1X), the second …