TY - JOUR
T1 - Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
AU - AlMuhaizea, Mohammed
AU - AlMass, Rawan
AU - AlHargan, Aljouhra
AU - AlBader, Anoud
AU - Medico Salsench, Eva
AU - Howaidi, Jude
AU - Ihinger, Jacie
AU - Karachunski, Peter
AU - Begtrup, Amber
AU - Segura Castell, Monica
AU - Bauer, Peter
AU - Bertoli-Avella, Aida
AU - Kaya, Ibrahim H
AU - AlSufayan, Jumanah
AU - AlQuait, Laila
AU - Chedrawi, Aziza
AU - Arold, Stefan T.
AU - Colak, Dilek
AU - Barakat, Tahsin Stefan
AU - Kaya, Namik
N1 - KAUST Repository Item: Exported on 2020-10-01
Acknowledged KAUST grant number(s): FCC1/1976-25
Acknowledgements: 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.
PY - 2020/2/2
Y1 - 2020/2/2
N2 - 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.
AB - 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.
UR - http://hdl.handle.net/10754/661480
UR - http://link.springer.com/10.1007/s00401-020-02128-8
UR - http://www.scopus.com/inward/record.url?scp=85078875335&partnerID=8YFLogxK
U2 - 10.1007/s00401-020-02128-8
DO - 10.1007/s00401-020-02128-8
M3 - Article
C2 - 32006098
SN - 0001-6322
JO - Acta Neuropathologica
JF - Acta Neuropathologica
ER -