New developments in Charcot–Marie–Tooth neuropathy and related diseases

D Pareyson, P Saveri, C Pisciotta - Current opinion in neurology, 2017 - journals.lww.com
This is a rapidly evolving field where better understanding of pathophysiology is paving the
way to develop potentially effective treatments, part of which will soon be tested in patients …

Molecular mechanisms involved in Schwann cell plasticity

A Boerboom, V Dion, A Chariot… - Frontiers in molecular …, 2017 - frontiersin.org
Schwann cell incredible plasticity is a hallmark of the utmost importance following nerve
damage or in demyelinating neuropathies. After injury, Schwann cells undergo …

A newly identified lncRNA MAR1 acts as a miR‐487b sponge to promote skeletal muscle differentiation and regeneration

ZK Zhang, J Li, D Guan, C Liang, Z Zhuo… - Journal of cachexia …, 2018 - Wiley Online Library
Background Skeletal muscle atrophy induced by either aging (sarcopenia) or mechanical
unloading is associated with serious health consequences. Long non‐coding RNAs …

AAV targeting of glial cell types in the central and peripheral nervous system and relevance to human gene therapy

SJ O'Carroll, WH Cook, D Young - Frontiers in Molecular …, 2021 - frontiersin.org
Different glial cell types are found throughout the central (CNS) and peripheral nervous
system (PNS), where they have important functions. These cell types are also involved in …

Emerging therapies for Charcot-Marie-Tooth inherited neuropathies

M Stavrou, I Sargiannidou, E Georgiou… - International Journal of …, 2021 - mdpi.com
Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically
heterogeneous disorders affecting the peripheral nerves, causing significant and slowly …

Challenges in treating Charcot-Marie-Tooth disease and related neuropathies: current management and future perspectives

C Pisciotta, P Saveri, D Pareyson - Brain sciences, 2021 - mdpi.com
There is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies
(CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities …

Treating pediatric neuromuscular disorders: the future is now

JJ Dowling, H D. Gonorazky, RD Cohn… - American Journal of …, 2018 - Wiley Online Library
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …

Charcot–Marie–Tooth neuropathies: current gene therapy advances and the route toward translation

M Stavrou, A Kagiava, I Sargiannidou… - Journal of the …, 2023 - Wiley Online Library
Abstract Charcot–Marie–Tooth (CMT) neuropathies are a group of genetically and
phenotypically heterogeneous disorders that predominantly affect the peripheral nervous …

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 …

Sensory nerve maintains intervertebral disc extracellular matrix homeostasis via CGRP/CHSY1 axis

B Hu, X Lv, L Wei, Y Wang, G Zheng, C Yang… - Advanced …, 2022 - Wiley Online Library
Sensory nerves are long being recognized as collecting units of various outer stimuli; recent
advances indicate that the sensory nerve also plays pivotal roles in maintaining organ …