Proteomics

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Novel Kinesin Family 1A Variants Linked to Atypical Parkinsonism Elicit Altered Neuronal TDP-43 Interactions and Dendritic Atrophy

ABSTRACT: We used patient induced pluripotent stem cells (IPSC) derived neurons from a patient with two mutations in KIF1A to evaluate the quantitative changes to KIF1A protein interaction, relative to wild-type control IPSC-motor neurons, using an anti-KIF1A antibody during immunoprecipitation. Given the related findings and interests of the study, we also compared the quantitative changes to TDP-43 protein interaction, using an anti-TDP-43 antibody during immunoprecipitation.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Stem Cell

DISEASE(S): Parkinsonism

SUBMITTER: Christopher Donnelly  

LAB HEAD: Christopher Donnelly

PROVIDER: PXD067234 | Pride | 2025-08-26

REPOSITORIES: Pride

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Dataset's files

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Action DRS
080723_Donnelly-Marks_CS03_KIFIA_2.raw Raw
080723_Donnelly-Marks_CS03_KIFIA_3.raw Raw
080723_Donnelly-Marks_CS03_TDP_1.raw Raw
080723_Donnelly-Marks_CS03_TDP_2.raw Raw
080723_Donnelly-Marks_CS15_KIFIA_1.raw Raw
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Publications

Novel Kinesin Family Member 1A Variants Linked to Atypical Parkinsonism Elicit Altered Neuronal Transactive Response DNA Binding Protein 43 kDa Interactions and Dendritic Atrophy.

Homayoun Houman H   DeChellis-Marks Michael R MR   Kofler Julia J   Fricklas Gabriella G   Gleixner Amanda M AM   Yeh Fang-Cheng FC   Lacomis David D   Chu Charleen T CT   Donnelly Christopher J CJ  

The American journal of pathology 20250619

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 developed spasticity and parkinsonism in their mid-60s, with the father dying at age 70 year  ...[more]

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