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

dc.contributor.authorAlMuhaizea, Mohammed
dc.contributor.authorAlMass, Rawan
dc.contributor.authorAlHargan, Aljouhra
dc.contributor.authorAlBader, Anoud
dc.contributor.authorMedico Salsench, Eva
dc.contributor.authorHowaidi, Jude
dc.contributor.authorIhinger, Jacie
dc.contributor.authorKarachunski, Peter
dc.contributor.authorBegtrup, Amber
dc.contributor.authorSegura Castell, Monica
dc.contributor.authorBauer, Peter
dc.contributor.authorBertoli-Avella, Aida
dc.contributor.authorKaya, Ibrahim H
dc.contributor.authorAlSufayan, Jumanah
dc.contributor.authorAlQuait, Laila
dc.contributor.authorChedrawi, Aziza
dc.contributor.authorArold, Stefan T.
dc.contributor.authorColak, Dilek
dc.contributor.authorBarakat, Tahsin Stefan
dc.contributor.authorKaya, Namik
dc.date.accessioned2020-02-12T07:05:45Z
dc.date.available2020-02-12T07:05:45Z
dc.date.issued2020-01-31
dc.date.submitted2019-12-23
dc.identifier.citationAlMuhaizea, 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
dc.identifier.doi10.1007/s00401-020-02128-8
dc.identifier.urihttp://hdl.handle.net/10754/661480
dc.description.abstractSeveral 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.
dc.description.sponsorshipWe 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.
dc.publisherSpringer Nature
dc.relation.urlhttp://link.springer.com/10.1007/s00401-020-02128-8
dc.rightsArchived with thanks to Acta neuropathologica
dc.titleTruncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
dc.typeArticle
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.contributor.departmentBioscience Program
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.contributor.departmentComputer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
dc.contributor.departmentStructural Biology and Engineering
dc.identifier.journalActa neuropathologica
dc.rights.embargodate2021-02-02
dc.eprint.versionPost-print
dc.contributor.institutionDepartment of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
dc.contributor.institutionDepartment of Genetics, KFSHRC, Riyadh, Saudi Arabia.
dc.contributor.institutionDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
dc.contributor.institutionUniversity of Minnesota Medical Center, Minneapolis, MN, 55455, USA.
dc.contributor.institutionDepartment of Neurology, University of Minnesota, Minneapolis, MN, 55455, USA.
dc.contributor.institutionGeneDx, Gaithersburg, MD, 20877, USA.
dc.contributor.institutionCENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
dc.contributor.institutionCollege of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
dc.contributor.institutionDepartment of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia.
kaust.personArold, Stefan T.
kaust.grant.numberFCC1/1976-25
dc.date.accepted2020-01-21
refterms.dateFOA2020-02-12T12:08:47Z
kaust.acknowledged.supportUnitOffice of Sponsored Research
dc.date.published-online2020-01-31
dc.date.published-print2020-04


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