Article
Novel Kinesin Family Member 1A Variants Linked to Atypical Parkinsonism Elicit Altered Neuronal Transactive Response DNA Binding Protein 43 kDa Interactions and Dendritic Atrophy.
The American journal of pathology - 1 Nov 2025
Homayoun Houman, DeChellis-Marks Michael R, Kofler Julia, Fricklas Gabriella, Gleixner Amanda M, Yeh Fang-Cheng, Lacomis David, Chu Charleen T, Donnelly Christopher J
Abstract excerpt
Analysis of induced pluripotent stem cell (iPSC)-derived neurons from the son of a father-son pair with novel familial variants of uncertain significance in kinesin family member 1A (KIF1A) [c.408C>G (p.Asp136Glu); c.3914G>A (p.Arg1305His)] reveal pathologic features of altered transactive response DNA binding protein 43 kDa (TDP-43) localization, interactions, and stunted dendritic arbors. Both patients...
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