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

Mohammed AlMuhaizea; Rawan AlMass; Aljouhra AlHargan; Anoud AlBader; Eva Medico Salsench; Jude Howaidi; Jacie Ihinger; Peter Karachunski; Amber Begtrup; Monica Segura Castell; Peter Bauer; Aida Bertoli-Avella; Ibrahim H Kaya; Jumanah AlSufayan; Laila AlQuait; Aziza Chedrawi; Stefan T. Arold; Dilek Colak; Tahsin Stefan Barakat; Namik Kaya

doi:10.1007/s00401-020-02128-8

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

Mohammed AlMuhaizea, Rawan AlMass, Aljouhra AlHargan, Anoud AlBader, Eva Medico Salsench, Jude Howaidi, Jacie Ihinger, Peter Karachunski, Amber Begtrup, Monica Segura Castell, Peter Bauer, Aida Bertoli-Avella, Ibrahim H Kaya, Jumanah AlSufayan, Laila AlQuait, Aziza Chedrawi, Stefan T. Arold, Dilek Colak, Tahsin Stefan Barakat, Namik Kaya

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

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.

Original language	English (US)
Journal	Acta Neuropathologica
DOIs	https://doi.org/10.1007/s00401-020-02128-8
State	Published - Feb 2 2020

Bibliographical note

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.

Access to Document

10.1007/s00401-020-02128-8

https://repository.kaust.edu.sa/bitstream/10754/661480/2/ANEU-D-19-01085_R1.pdf

Cite this

AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Medico Salsench, E., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Segura Castell, M., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S., & Kaya, N. (2020). Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. Acta Neuropathologica. https://doi.org/10.1007/s00401-020-02128-8

@article{243e0f82d93944ae811ed4d52d24be4c,

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

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.",

author = "Mohammed AlMuhaizea and Rawan AlMass and Aljouhra AlHargan and Anoud AlBader and {Medico Salsench}, Eva and Jude Howaidi and Jacie Ihinger and Peter Karachunski and Amber Begtrup and {Segura Castell}, Monica and Peter Bauer and Aida Bertoli-Avella and Kaya, {Ibrahim H} and Jumanah AlSufayan and Laila AlQuait and Aziza Chedrawi and Arold, {Stefan T.} and Dilek Colak and Barakat, {Tahsin Stefan} and Namik Kaya",

note = "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.",

year = "2020",

month = feb,

day = "2",

doi = "10.1007/s00401-020-02128-8",

language = "English (US)",

journal = "Acta Neuropathologica",

issn = "0001-6322",

publisher = "Springer Science and Business Media Deutschland GmbH",

}

AlMuhaizea, M, AlMass, R, AlHargan, A, AlBader, A, Medico Salsench, E, Howaidi, J, Ihinger, J, Karachunski, P, Begtrup, A, Segura Castell, M, Bauer, P, Bertoli-Avella, A, Kaya, IH, AlSufayan, J, AlQuait, L, Chedrawi, A, Arold, ST, Colak, D, Barakat, TS & Kaya, N 2020, 'Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.', Acta Neuropathologica. https://doi.org/10.1007/s00401-020-02128-8

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 -

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

Abstract

Bibliographical note

Access to Document

Other files and links

Fingerprint

Cite this