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Keywords: NESCAV syndrome, KIF1A, kinesin, microtubule, motility, ATPase Author: Anna Santamaria and Anna Ruiz Creator: LaTeX with hyperref package Producer: pdfTeX-1.40.15 CreationDate: Thu May 20 15:58:05 2021 CEST ModDate: Thu May 20 17:19:16 2021 CEST Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 9 Encrypted: no Page size: 595.276 x 779.528 pts Page rot: 0 File size: 2387002 bytes Optimized: no PDF version: 1.6 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- JPJOGX+MinionPro-Regular Type 1 Custom yes yes no 26 0 FFRXRL+HelveticaNeueLTStd-Bd Type 1 Custom yes yes no 27 0 BTVWJX+HelveticaNeueLTStd-Lt Type 1 Custom yes yes no 28 0 IZPEPF+HelveticaNeueLTStd-BdIt Type 1 Custom yes yes no 33 0 UAOBOD+HelveticaNeueLTStd-LtIt Type 1 Custom yes yes no 34 0 MJORXR+HelveticaNeueLTStd-MdIt Type 1 Custom yes yes no 35 0 TXZERQ+MinionPro-It Type 1 Custom yes yes no 115 0 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Sequencing and Variant Detection Item: Title: Plasmids Item: Title: Cloning and Production of Recombinant KIF1A R169T and WT Motor Domains Item: Title: Overexpression of KIF1A in the SH-SY5Y Cell Line Item: Title: In vitro ATPase Assay Item: Title: Structural Modeling of the KIF1A R169T Missense Variant Item: Title: Results Children: Item: Title: Clinical Description of the Patient Item: Title: Identification of a de novo R169T Variant in the KIF1A Gene Item: Title: Functional Analysis of the R169T Variant Children: Item: Title: The KIF1A R169T Variant Does Not Alter the Protein Stability Item: Title: R169T Missense Variant Impairs KIF1A ATPase Activity Item: Title: Structural Modeling of the KIF1A R169T Missense Variant Item: Title: Discussion Item: Title: Data Availability Statement Item: Title: Ethics Statement Item: Title: Author Contributions Item: Title: Funding Item: Title: Acknowledgments Item: Title: Supplementary Material Item: Title: References Filters: FilterPipeline: 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application/pdf fnins-15-618098.tex The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome KIF1A is a microtubule-dependent motor protein responsible for fast anterograde transport of synaptic vesicle precursors in neurons. 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