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Research

Retraction: Charcot-Marie-Tooth Disease as a Risk Factor for Periprosthetic Fractures in Tibiotalocalcaneal Fusion With Intramedullary Nailing Jan 20, 2023 - This article has been retracted.
INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis Jan 13, 2023 - This article is protected by copyright. All rights reserved.
Exercise induced myelin protein zero improvement in neuropathic pain rats Jan 11, 2023 - Swimming exercise improves myelin protein zero level in neuropathic rats along with attenuating neuropathic pain.
A meta-analysis on the prevalence of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies Jan 11, 2023 - CMT&RIPNs are probably prevalent in older ages, males, and Northern Europe.
X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report Jan 11, 2023 - SARS-CoV-2 vaccination could be a predisposing factor for CMTX1 and trigger a sudden presentation.
Electroceutical approach ameliorates intracellular PMP22 aggregation and promotes pro-myelinating pathways in a CMT1A in vitro model Dec 30, 2022 - This study demonstrates its effectiveness towards ameliorating biomolecular abnormalities in an in vitro model of CMT1A, an inherited peripheral neuropathy. These findings will facilitate the clinical translation of an electroceutical treatment for CMT1A.
How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease Dec 26, 2022 - The T118M mutation with the occurrence of long and/or repeated episodes of carpal tunnel syndrome.
CMT1A current gene therapy approaches and promising biomarkers Dec 22, 2022 - Tinnitus might negatively affect emotional wellbeing and cognitive capacities in older people.
Charcot-Marie-Tooth-1A and sciatic nerve crush rat models: insights from proteomics Nov 25, 2022 - This study may provide directions for better characterization of these models and/or identifying new specific therapeutic targets.
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis Nov 24, 2022 - Pathogenic PSAT1 variants can cause a mild phenotype, predominantly as autosomal recessive axonal Charcot-Marie-Tooth disease.
Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S Nov 22, 2022 - These mice will complement existing Ighmbp2 alleles modeling SMARD1 to help understand the complex phenotypic and genotypic heterogeneity that is observed in patients with IGHMBP2 variants.
Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system Nov 18, 2022 - Mice can be used to show the pathogenicity of human GJB1 mutations.
A novel splicing mutation in 5’UTR of GJB1 causes X-linked Charcot-Marie-tooth disease Nov 17, 2022 - This result expands the spectrum of mutations in GJB1 known to be associated with CMTX and contributes to the diagnosis of CMT and clinical genetic counseling.
Targeted inactivation of the Septin2 and Septin9 genes in myelinating Schwann cells of mice Nov 15, 2022 - SEPTIN2 but not SEPTIN9 is required for the formation or stabilization of a septin multimer in PNS myelin in vivo.
A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication Nov 9, 2022 - The MpzT124M mouse model faithfully reproduces the human neuropathy and represents a unique tool for identifying the molecular basis for glial support of axons.
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H Oct 31, 2022 - FRABIN might be a new therapeutic target for CMT4H.
Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy Oct 19, 2022 - Novel or very rare variants in MYO9B are associated with CMT2 and isolated OA.
Young infants with PMP22 duplication can have minor nerve conduction study abnormalities Oct 14, 2022 - EDX abnormalities in CMT1A patients may appear late during development.
Magnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data Oct 5, 2022 - Our MRI parameters obtained through semiquantitative analyses of muscles significantly correlated with clinical parameters in CMT1A patients, suggesting their potential applicability as imaging markers for clinical severity.
Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study Oct 5, 2022 - The results of our study confirm the usefulness of SF36 in recognizing the impact of upper limb disability in these subjects suggesting its use even in the remote monitoring of physical functioning.
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot Marie Tooth Disease model Sep 26, 2022 - s. V133F proteins displayed reduced thermal stability in vitro, which was rescued by tRNA.
Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease Sep 25, 2022 - GJB1 variants-induced cell stress and dysfunction.
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry Sep 16, 2022 - An appreciable proportion of CMT patients shows general distress and depression.
A Charcot-Marie-Tooth-Causing Mutation in HSPB1 Decreases Cell Adaptation to Repeated Stress by Disrupting Autophagic Clearance of Misfolded Proteins Sep 15, 2022 - Our findings provide novel insights into the molecular mechanisms of HSPB1S135F-induced selective degeneration of peripheral neurons and perspectives for targeting autophagy as a promising therapeutic strategy for CMT neuropathy.
Effectiveness of a specific physical therapy program for Charcot-Marie-Tooth on sleep quality, pain perception, and nocturnal cramps: a pilot study Sep 15, 2022 - The health promotion of the volunteers in this study affected by the disease. Our findings may serve as a basis for future research to develop a program focused on the treatment of analgesia, which can improve pain perception and alter the objective quality of sleep.
Identity-by-descent analysis of CMTX3 links three families through a common founder Sep 12, 2022 - The mutation arose in a common ancestor.
Heterozygous Seryl-tRNA synthetase 1 variants cause Charcot-Marie-Tooth disease Sep 10, 2022 - Mutant SerRS proteins are known to impact various molecular and cellular functions.
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts Aug 22, 2022 - MFN2 mutation can positively drive cell proliferation in CMT2AMFN2 fibroblasts.
TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration Aug 19, 2022 - CMT2-related TFG mutation induces TFG haploinsufficiency within cells and drives disease by causing progressive neurite degeneration.
Implantable Electroceutical Approach Improves Myelination by Restoring Membrane Integrity in a Mouse Model of Peripheral Demyelinating Neuropathy Aug 16, 2022 - An electroceutical approach with the optimal ES condition has the potential to treat CMT disease and restore impaired myelin membrane integrity.
Charcot-Marie-Tooth Disease as a Risk Factor for Periprosthetic Fractures in Tibiotalocalcaneal Fusion With Intramedullary Nailing Aug 15, 2022 - This suggests that CMT is a significant risk factor. The authors propose a longer nail to reduce the lever arm, with a long period of protected weight bearing till union, followed by consideration of elective removal of the nail to prevent this phenomenon from occurring.
CMT2A-linked mitochondrial hyperfusion-driving mutant MFN2 perturbs ER-mitochondrial associations and Ca2+ homeostasis Aug 4, 2022 - Presence of the R364W-MFN2 mutation makes cells susceptible towards stress, thus negatively affecting cellular health.
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism Jul 31, 2022 - The MPZD61N/+ mouse represents an authentic model of severe CMT1B affirming gain-of-glycosylation in P0 as a novel pathomechanism of disease.
Expanding the phenotypic variability of MORC2 gene mutations: from Charcot Marie tooth disease to late-onset pure motor neuropathy Jul 29, 2022 - MORC2 mutations are associated with autosomal dominant CMT and with adult late onset proximal motor neuropathy.
Advantages of Adult Mouse Dorsal Root Ganglia Explant Culture in Investigating Myelination in an Inherited Neuropathic Mice Model Jul 24, 2022 - A DRG explant culture is a scientifically, ethically, and economically more practical option than a co-culture system for studying myelin dynamics, myelin sheath formation, and demyelinating disease.
Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy Jul 18, 2022 - CMT2B Rab7 mutation at the physiological level enhances Drp1 activity to promote mitochondrial fission, potentially underlying selective vulnerability of peripheral sensory neurons in CMT2B pathogenesis.
C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model Jul 16, 2022 - CMT2P is a slowly progressive axonal loss.
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients Jul 8, 2022 - The ical and electrophysiological symptoms of the CMT1E patients were more severely damaged than those of CMT1A while similar to CMT1B caused by MPZ mutations.
Alpha-1 Antitrypsin Reduces Disease Progression in a Mouse Model of Charcot-Marie-Tooth Type 1A: A Role for Decreased Inflammation and ADAM-17 Inhibition Jul 3, 2022 - Results demonstrate for the first time that hAAT is able to reduce the progression of CMT1A, possibly by dampening inflammation and by regulating ADAM-17.
EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study Jun 30, 2022 - Therefore, it seemed that the EGR2 mutations could cause not only the known demyelinating type and axonal type but also mixed-type CMT. Our findings expanded the phenotypic heterogeneities of EGR2-associated neuropathy.
The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2 Jun 28, 2022 - The IPV motif in protein aggregation by analyzing a potential association between DCM and CMT2.
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A Jun 26, 2022 - The study will examine novel and existing clinical outcome assessments and motor and sensory biomarkers.
Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease Jun 16, 2022 - The demyelinating phenotype of CMT4D disease is at least in part a consequence of molecular defects in neuregulin 1/ErbB signaling.
Theophylline Induces Remyelination and Functional Recovery in a Mouse Model of Peripheral Neuropathy Jun 15, 2022 - Theophylline treatment could be beneficial to promote myelination and thereby prevent axonal degeneration and enhance functional recovery in CMT1A patients.
Candidate imaging biomarkers for PMP22-related inherited neuropathies Jun 3, 2022 - MTR, CSA, and circularity showed promise as reliable and sensitive biomarkers of CMT1A, but not HNPP. These warrant longitudinal investigation as response biomarkers in upcoming clinical trials of CMT1A, while other methods should be considered for HNPP.
Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation May 24, 2022 - MRI findings will be helpful for genotype-phenotype correlation and will widen understanding about the clinical spectrum of CMT1C.
Disruption of endosomal sorting in Schwann cells leads to defective myelination and endosomal abnormalities observed in Charcot-Marie-Tooth disease May 23, 2022 - Demyelinating CMT might be caused by defective endosomal trafficking of internalized cell surface receptors.
A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice May 17, 2022 - AAV9-miR871-driven silencing of PMP22 rescues a CMT1A model and provides proof of principle for treating CMT1A using a translatable gene therapy approach.
The Lipid-Binding Defective Dynamin 2 Mutant in Charcot-Marie-Tooth Disease Impairs Proper Actin Bundling and Actin Organization in Glomerular Podocytes May 10, 2022 - Dynamin 2-mediated interactions between actin and membranes are critical for actin bundle formation in HPCs.
Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1 May 4, 2022 - CMT may arise from disruption of specific intra- and intermolecular interaction networks, leading to alterations in GDAP1 structure and stability, and eventually, insufficient motor and sensory neuron function.
Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice May 2, 2022 - IFB-088 reduces the amount of newly synthesized proteins entering the ER, allowing the protein quality control systems to better cope with the unfolded/misfolded protein and allowing myelination to progress.
Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene Apr 12, 2022 - This iPSC line represents an ideal source for disease modelling and drug development of CMT2A2 disease.
Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies Apr 8, 2022 - PMP22 dosage affects nonmyelinating as well as myelinating Schwann cells.
The Antiepileptic Valproic Acid Ameliorates Charcot-Marie-Tooth 2W (CMT2W) Disease-Associated HARS1 Mutation-Induced Inhibition of Neuronal Cell Morphological Differentiation Through c-Jun N-terminal Kinase Apr 5, 2022 - This could be a potential therapeutic drug for CMT2W at the cellular levels.
Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor Mar 30, 2022 - Therefore, our results suggest that the novel HDAC6 inhibitor CKD-504 could be a potential therapeutic approach for NMJ diseases such as CMT and dHMN5.
Curcumin and Ethanol Effects in Trembler-J Schwann Cell Culture Mar 29, 2022 - The analysis of the effects of the vehicle itself is an essential and inescapable step to comprehensibly assess the effects and full potential of curcumin treatment for therapeutic purposes.
The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology Mar 24, 2022 - Here, we will review what is known about the various functions of MFN2 that are impaired by pathogenic variants causing CMT2A, with a specific emphasis on the ties between MFN2 variants and MERCs.
HDAC3 Inhibition Stimulates Myelination in a CMT1A Mouse Model Mar 23, 2022 - Overall, our results indicate that correct dosing of HDAC3 inhibitors is of crucial importance if translated to a clinical setting for demyelinating forms of CMT or other neurological disorders.
Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation Mar 21, 2022 - Pharmacological MFN activation of metabolically reprogrammed fibroblasts partially reversed the mitochondrial abnormalities in CMT2A and CMT1 and a subset of Parkinson’s and Alzheimer’s disease patients, implicating addressable mitochondrial dysdynamism in these illnesses.
Clinical genetics of Charcot–Marie–Tooth disease Mar 18, 2022 - In addition, we discuss the newly identified novel causative genes for CMT/IPNs in Japan, namely MME and COA7. Identification of the new causes of CMT will facilitate in-depth characterization of the underlying molecular mechanisms of CMT, leading to the establishment of therapeutic approaches such as drug development and gene therapy.
Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population Mar 16, 2022 - Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population https://pubmed.ncbi.nlm.nih.gov/35297028/ https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0042-1743438
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening Mar 14, 2022 - Our results broaden the clinical spectrum of DNAJB2-related neuropathies and provide evidence that DNAJB2 mutations should be taken into account as another causative gene of CMT2 with hearing loss and parkinsonism.
Multiubiquitination of TRPV4 reduces channel activity independent of surface localization Mar 14, 2022 - Together, these data reveal a novel mechanism via which ubiquitination of an intracellular flexible IDR domain modulates ion channel function independently of endocytic trafficking and identify a contributory role for this pathway in the dysregulation of TRPV4 channel activity by neuropathy-causing mutations. (Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.)
Mitochondria-lysosome contact site dynamics and misregulation in neurodegenerative diseases Mar 3, 2022 - Defects in mitochondria-lysosome contacts have been observed in experimental models of genetic mutations associated with multiple neurodegenerative diseases, including Charcot-Marie-Tooth disease. In this review, we highlight recent advances in the field of mitochondria-lysosome contact sites and their misregulation across multiple neurodegenerative disorders, which further underscore a potential role for this pathway in neuronal homeostasis and disease.
Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A Feb 25, 2022 - We propose that CMT1A with acute to subacute, atraumatic, entrapment neuropathies to be a distinct phenotypic variant of CMT1A.
Early targeting of endoneurial macrophages alleviates the neuropathy and affects abnormal Schwann cell differentiation in a mouse model of Charcot-Marie-Tooth 1A Feb 21, 2022 - These findings underscore the targetable role of macrophage-mediated inflammation in peripheral nerves of inherited neuropathies, but also emphasize the need for an early treatment start confined to a narrow therapeutic time window in CMT1A models and potentially in respective patients.
Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1 [preprint] Feb 18, 2022 - Taken together, although the CMT mutations in GDAP1 initially appear to be scattered throughout the sequence, in the 3D structure, they are involved in close interaction networks, and these networks are sensitive against changes in many different participating residues. This observation explains the general loss of protein stability upon mutations in such networks and clusters and may hint at an overall mechanism of GDAP1-linked CMT.
Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons Feb 14, 2022 - Dominant missense mutations and recessive nonsense mutations in the neurofilament light gene (NEFL) are among the causes of Charcot–Marie–Tooth (CMT) neuropathy, which affects the peripheral nerves with the longest axons.
A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D Feb 11, 2022 - https://link.springer.com/article/10.1007/s10072-022-05893-4 A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice Feb 10, 2022 - We also identify serum GDF15 as a highly sensitive diagnostic biomarker, which was elevated in all CMT genotypes as well as in Hspb8K141N, Gjb1-null, GarsC201R and GarsP278KY mouse models.