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    Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.

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    ANEU-D-19-01085_R1.pdf
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    Description:
    Accepted manuscript
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    401_2020_2128_MOESM1_ESM.pdf
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    Type
    Article
    Authors
    AlMuhaizea, Mohammed
    AlMass, Rawan
    AlHargan, Aljouhra
    AlBader, Anoud
    Medico Salsench, Eva
    Howaidi, Jude
    Ihinger, Jacie
    Karachunski, Peter
    Begtrup, Amber
    Segura Castell, Monica
    Bauer, Peter
    Bertoli-Avella, Aida
    Kaya, Ibrahim H
    AlSufayan, Jumanah
    AlQuait, Laila
    Chedrawi, Aziza
    Arold, Stefan T. cc
    Colak, Dilek cc
    Barakat, Tahsin Stefan cc
    Kaya, Namik cc
    KAUST Department
    Biological and Environmental Sciences and Engineering (BESE) Division
    Bioscience Program
    Computational Bioscience Research Center (CBRC)
    Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
    Structural Biology and Engineering
    KAUST Grant Number
    FCC1/1976-25
    Date
    2020-01-31
    Online Publication Date
    2020-01-31
    Print Publication Date
    2020-04
    Embargo End Date
    2021-02-02
    Submitted Date
    2019-12-23
    Permanent link to this record
    http://hdl.handle.net/10754/661480
    
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    Abstract
    Several intracellular proteins are involved in mediating vesicular transport of protein and lipid cargo from the endoplasmic reticulum (ER) to the Golgi apparatus (GA) in eukaryotic cells. Errors in membrane trafcking between ER and GA have been implicated in brain disorders [1, 7], showing that these processes are critical for neuronal biogenesis. An important protein in these processes is YIF1B, an intracellular 314-residue transmembrane protein. Hippocampal neurons from Yif1B knockout (KO) mice showed that Yif1B is implicated in anterograde trafcking and Golgi architecture [1], where depletion of Yif1b caused disorganization, fragmentation, and volume reduction of the GA in pyramidal neurons.
    Citation
    AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Medico Salsench, E., Howaidi, J., … Kaya, N. (2020). Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. Acta Neuropathologica. doi:10.1007/s00401-020-02128-8
    Sponsors
    We are grateful to the patient families for their participation. This research was conducted through intramural funds (RAC# 2120022, 2180004, 2110006) provided by King Faisal Specialist Hospital and Research Centre (KFSHRC). We would like to thank National Plan for Science, Technology and Innovation program under King Abdulaziz City for Science and Technology (NSTIP/KACST) for supporting NK and DC. We thank the King Salman Center for Disability Research for generous funds for NK. We thank the KFSHRC Genotyping and Sequencing Core Facilities at Genetics Department, Research Advisory Council Committees, Saudi Human Genome Program and Purchasing Department (Mr. Faisal Al Otaibi) for facilitating and expediting our requests. The research by STA was supported by funding from King Abdullah University of Science and Technology (KAUST) through the Award No. FCC1/1976-25 form the Office of Sponsored Research. TSB is supported by the Netherlands Organization for Scientific Research (ZonMW Veni, Grant 91617021), a Brain & Behavior Research Foundation NARSAD Young Investigator Grant, an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018.
    Publisher
    Springer Nature
    Journal
    Acta neuropathologica
    DOI
    10.1007/s00401-020-02128-8
    Additional Links
    http://link.springer.com/10.1007/s00401-020-02128-8
    ae974a485f413a2113503eed53cd6c53
    10.1007/s00401-020-02128-8
    Scopus Count
    Collections
    Articles; Biological and Environmental Science and Engineering (BESE) Division; Bioscience Program; Computational Bioscience Research Center (CBRC); Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division

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