Article

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in <i>VRK1</i>

2021-04-02

Abstract excerpt

<h4>Summary</h4> We recently described new pathogenic variants in VRK1 , in patients affected with distal Hereditary Motor Neuropathy associated with upper motor neurons signs. Specifically, we provided evidences that hiPSC-derived Motor Neurons (hiPSC-MN) from these patients display Cajal bodies (CBs) disassembly and defects in neurite outgrowth and branching. We here focused on the Axonal Initial Segment (AIS...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4298abb9-7464-5fce-b89d-3bb9ac108514
DOI: 10.1101/2021.04.01.438138

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in <i>VRK1</i>DOI 10.1101/2021.04.01.438138Read

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.Semantic proximity Read

Altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation are key pathomechanisms in VRK1-related motor neuropathies and motor neuron diseasesSemantic proximity Read

Pathogenic TDP-43 Disrupts Axon Initial Segment Structure and Neuronal Excitability in a Human iPSC Model of ALSSemantic proximity Read

Pathophysiological Roles of Abnormal Axon Initial Segments in Neurodevelopmental DisordersSemantic proximity Read

Pathophysiological Roles of Abnormal Axon Initial Segments in Neurodevelopmental Disorders.Semantic proximity Read

A Review of Systems Biology of Axon Initial Segment: Action Potential Initiation, Propagation, and Neurological DiseasesSemantic proximity Read

Bi-allelic variants in <i>TSPOAP1</i> , encoding the active zone protein RIMBP1, cause autosomal recessive dystoniaSemantic proximity Read

Axon Initial Segment Pathology in Alzheimer's Disease Mouse Model Disturbs the Action Potential Initiation and PropagationSemantic proximity Read

VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases.Semantic proximity Read

Axon initial segments: structure, function, and diseaseSemantic proximity Read

Likely pathogenic variants of SDC3, KCNA2, KCNK1, KCNK16 and HSF1 are in support of acquired irreversible PIEZO2 channelopathy in ALS onsetSemantic proximity Read

Correction of sodium channel mutations in sensory neurons reverses aberrant properties.Semantic proximity Read