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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …