Hereditary Neurological Disorders

The paper identifies a deep intronic MME variant causing CMT through aberrant splicing, highlighting the importance of considering deep intronic variants in CMT diagnosis.

The paper identifies novel compounds that inhibit DLK palmitoylation in axons, providing neuroprotection without causing cytoskeletal disruption seen with broader DLK inhibition.

The paper creates a zebrafish model of CMT4B3 that mirrors human disease features, providing a pre-clinical tool for research and therapy development.

The paper investigates VRK1-related motor neuropathies using hiPSC-MNs and bulk mRNA-Seq, identifying altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation as key pathomechanisms.

This study shows that reducing ganglioside synthesis delays motor and cognitive symptoms in Spg11 knockout mice and reduces axonal spheroids.

The paper systematically evaluates HINT1 variants causing NMAN using structural and functional analyses to classify their pathogenicity and guide personalized therapies.

This study identifies defective lipid metabolism in Schwann cells as a cause of CMT1A, showing altered lipid composition and membrane dynamics in mouse models and human iPSC-derived cells.

The paper identifies a novel gene-intergenic fusion in UBE3C causing dHMN and demonstrates its pathogenic effects using patient-derived models and a C. elegans transgenic system.

This study shows that SARM1 inhibition reduces axonal, synaptic, and mitochondrial defects in a CMT2A rat model.

The paper develops a P0T124M mouse model of CMT2J neuropathy, showing axonal damage without significant myelin defects and altered axo-glia communication.

This study identifies FGD4/FRABIN's role in regulating NRG1/ErbB2/3 signaling and myelination in CMT4H, showing that restoring this pathway with niacin reduces myelin outfoldings.

This study identifies PI3K/Akt/mTOR signaling as a therapeutic target for HNPP by showing that mTOR inhibitors reduce hypermyelination in HNPP mouse models.

This study shows that GANP deficiency in human motor neurons disrupts gene regulation and RNA metabolism, affecting nearly 40% of expressed genes and splicing patterns.

The paper studies a mouse model of CMT1A disorder to evaluate its utility in understanding peripheral neuropathy and testing pharmacological treatments.

The paper identifies conserved regions of the SPG11 protein and their potential functions in intracellular trafficking, linking them to disease mechanisms in hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy.

This study shows that disrupting CMT2-associated genes in C. elegans causes similar movement, muscle, and neuromuscular junction defects.

The paper performs genomic, ancestral, and networking analysis on a high-altitude Ecuadorian CIPA patient, identifying NTRK1 mutations and associated variants.

The paper investigates how ATP and ROS production in axonal mitochondria differ under normal and neuropathic conditions, finding they become decoupled in disease states.

This study shows that increasing neuregulin 1 type III in neurons improves myelination in a mouse model of congenital hypomyelinating neuropathy without relying on Egr2 or typical myelin genes.

This study shows that enhancing Nrg1TIII signaling reduces disease severity in a CMT1B mouse model by rebalancing myelin lipids and proteins, not through myelin gene upregulation.