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

Colak, Dilek

Barakat, Tahsin Stefan

Kaya, Namik

KAUST Department
Biological and Environmental Sciences and Engineering (BESE) DivisionBioscience Program
Computational Bioscience Research Center (CBRC)
Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
Structural Biology and Engineering
KAUST Grant Number
FCC1/1976-25Date
2020-01-31Online Publication Date
2020-01-31Print Publication Date
2020-04Embargo End Date
2021-02-02Submitted Date
2019-12-23Permanent link to this record
http://hdl.handle.net/10754/661480
Metadata
Show full item recordAbstract
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/s00401-020-02128-8Sponsors
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 NatureJournal
Acta neuropathologicaAdditional Links
http://link.springer.com/10.1007/s00401-020-02128-8ae974a485f413a2113503eed53cd6c53
10.1007/s00401-020-02128-8