FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3149609863> ?p ?o ?g. }

• W3149609863 abstract "Summary 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) and the related firing properties of hiPSC-MNs from these patients. We found that the patient’s Action Potential (AP) was smaller in amplitude, larger in duration, and displayed a more depolarized threshold while the firing patterns were not altered. These alterations were accompanied by a decrease in the AIS length measured in patients’ hiPSC-MNs. These data indicate that mutations in VRK1 impact the AP waveform and the AIS organization in MNs and may ultimately lead to the related motor neuron disease. Highlights hiPSC-MNs are functional and sustain firing patterns, typical of spinal MNs hiPSC-MNs from patients with VRK1 mutations have altered Action Potential Axonal Initial Segment is shorter in hiPSC-MNs from patients with mutated VRK1 hiPSC-MNs are a useful platform to study Motor Inherited Peripheral Neuropathies eTOC Blurb In human spinal Motor Neurons derived from induced Pluripotent Stem Cells from patients with VRK1 -related distal Hereditary Motor Neuropathy, Bos, Rihan et al. show that the mutations in VRK1 affect the electrical properties of these neurons: they display defects in the initiation of the Action Potential due to a shortening of the Axonal Initial Segment." @default.
• W3149609863 created "2021-04-13" @default.
• W3149609863 creator A5004146540 @default.
• W3149609863 creator A5015396034 @default.
• W3149609863 creator A5028804707 @default.
• W3149609863 creator A5047867140 @default.
• W3149609863 creator A5047946558 @default.
• W3149609863 creator A5049921490 @default.
• W3149609863 creator A5070343606 @default.
• W3149609863 creator A5074414048 @default.
• W3149609863 creator A5085635699 @default.
• W3149609863 creator A5087503778 @default.
• W3149609863 date "2021-04-02" @default.
• W3149609863 modified "2023-10-18" @default.
• W3149609863 title "Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1" @default.
• W3149609863 cites W1546394398 @default.
• W3149609863 cites W1852853462 @default.
• W3149609863 cites W1977374662 @default.
• W3149609863 cites W1978425667 @default.
• W3149609863 cites W1982045496 @default.
• W3149609863 cites W2003806220 @default.
• W3149609863 cites W2027293352 @default.
• W3149609863 cites W2032174132 @default.
• W3149609863 cites W2045451799 @default.
• W3149609863 cites W2059521716 @default.
• W3149609863 cites W2059642730 @default.
• W3149609863 cites W2063996210 @default.
• W3149609863 cites W2083146650 @default.
• W3149609863 cites W2083405476 @default.
• W3149609863 cites W2092166405 @default.
• W3149609863 cites W2099036911 @default.
• W3149609863 cites W2103667407 @default.
• W3149609863 cites W2125987139 @default.
• W3149609863 cites W2134440736 @default.
• W3149609863 cites W2138977668 @default.
• W3149609863 cites W2139728867 @default.
• W3149609863 cites W2140183904 @default.
• W3149609863 cites W2142703154 @default.
• W3149609863 cites W2144993965 @default.
• W3149609863 cites W2153120212 @default.
• W3149609863 cites W2156688270 @default.
• W3149609863 cites W2164425582 @default.
• W3149609863 cites W2168535307 @default.
• W3149609863 cites W2255287526 @default.
• W3149609863 cites W2291938398 @default.
• W3149609863 cites W2317226401 @default.
• W3149609863 cites W2519157528 @default.
• W3149609863 cites W2538155700 @default.
• W3149609863 cites W2787301736 @default.
• W3149609863 cites W2793215523 @default.
• W3149609863 cites W2793341813 @default.
• W3149609863 cites W2795357920 @default.
• W3149609863 cites W2802378500 @default.
• W3149609863 cites W2902664668 @default.
• W3149609863 cites W2934013272 @default.
• W3149609863 cites W2940539756 @default.
• W3149609863 cites W3003558512 @default.
• W3149609863 cites W3036142526 @default.
• W3149609863 cites W3080157733 @default.
• W3149609863 cites W3109759082 @default.
• W3149609863 cites W3128416812 @default.
• W3149609863 cites W843516649 @default.
• W3149609863 doi "https://doi.org/10.1101/2021.04.01.438138" @default.
• W3149609863 hasPublicationYear "2021" @default.
• W3149609863 type Work @default.
• W3149609863 sameAs 3149609863 @default.
• W3149609863 citedByCount "0" @default.
• W3149609863 crossrefType "posted-content" @default.
• W3149609863 hasAuthorship W3149609863A5004146540 @default.
• W3149609863 hasAuthorship W3149609863A5015396034 @default.
• W3149609863 hasAuthorship W3149609863A5028804707 @default.
• W3149609863 hasAuthorship W3149609863A5047867140 @default.
• W3149609863 hasAuthorship W3149609863A5047946558 @default.
• W3149609863 hasAuthorship W3149609863A5049921490 @default.
• W3149609863 hasAuthorship W3149609863A5070343606 @default.
• W3149609863 hasAuthorship W3149609863A5074414048 @default.
• W3149609863 hasAuthorship W3149609863A5085635699 @default.
• W3149609863 hasAuthorship W3149609863A5087503778 @default.
• W3149609863 hasBestOaLocation W31496098631 @default.
• W3149609863 hasConcept C104317684 @default.
• W3149609863 hasConcept C107459253 @default.
• W3149609863 hasConcept C113246987 @default.
• W3149609863 hasConcept C145103041 @default.
• W3149609863 hasConcept C151626666 @default.
• W3149609863 hasConcept C169760540 @default.
• W3149609863 hasConcept C17077164 @default.
• W3149609863 hasConcept C185263204 @default.
• W3149609863 hasConcept C202751555 @default.
• W3149609863 hasConcept C2776752467 @default.
• W3149609863 hasConcept C2779530196 @default.
• W3149609863 hasConcept C2780775167 @default.
• W3149609863 hasConcept C54355233 @default.
• W3149609863 hasConcept C71924100 @default.
• W3149609863 hasConcept C86803240 @default.
• W3149609863 hasConceptScore W3149609863C104317684 @default.
• W3149609863 hasConceptScore W3149609863C107459253 @default.
• W3149609863 hasConceptScore W3149609863C113246987 @default.
• W3149609863 hasConceptScore W3149609863C145103041 @default.
• W3149609863 hasConceptScore W3149609863C151626666 @default.
• W3149609863 hasConceptScore W3149609863C169760540 @default.

• next