Top

Published in:

01-04-2020 | Dystonia | Correspondence

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

Authors: 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

Published in: Acta Neuropathologica | Issue 4/2020

Excerpt

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 trafficking 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 trafficking and Golgi architecture [1], where depletion of Yif1b caused disorganization, fragmentation, and volume reduction of the GA in pyramidal neurons. …

Available only for authorised users

Alterio J, Masson J, Diaz J, Chachlaki K, Salman H, Areias J et al (2015) Yif1B is involved in the anterograde traffic pathway and the Golgi architecture. Traffic 16:978–993. https://doi.org/10.1111/tra.12306 CrossRefPubMed

Burnett EJ, Grant KA, Davenport AT, Hemby SE, Friedman DP (2014) The effects of chronic ethanol self-administration on hippocampal 5-HT1A receptors in monkeys. Drug Alcohol Depend 136:135–142. https://doi.org/10.1016/j.drugalcdep.2014.01.002 CrossRefPubMedPubMedCentral

Carrel D, Masson J, Al Awabdh S, Capra CB, Lenkei Z, Hamon M et al (2008) Targeting of the 5-HT1A serotonin receptor to neuronal dendrites is mediated by Yif1B. J Neurosci 28:8063–8073. https://doi.org/10.1523/JNEUROSCI.4487-07.2008 CrossRefPubMedPubMedCentral

Carrel TL, McWhorter ML, Workman E, Zhang H, Wolstencroft EC, Lorson C et al (2006) Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J Neurosci 26:11014–11022. https://doi.org/10.1523/JNEUROSCI.1637-06.2006 CrossRefPubMedPubMedCentral

Demirel O, Waibler Z, Kalinke U, Grunebach F, Appel S, Brossart P et al (2007) Identification of a lysosomal peptide transport system induced during dendritic cell development. J Biol Chem 282:37836–37843. https://doi.org/10.1074/jbc.M708139200 CrossRefPubMed

Graab P, Bock C, Weiss K, Hirth A, Koller N, Braner M et al (2019) Lysosomal targeting of the ABC transporter TAPL is determined by membrane-localized charged residues. J Biol Chem 294:7308–7323. https://doi.org/10.1074/jbc.RA118.007071 CrossRefPubMed

Horton AC, Ehlers MD (2003) Neuronal polarity and trafficking. Neuron 40:277–295. https://doi.org/10.1016/s0896-6273(03)00629-9 CrossRefPubMed

Title: Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
Authors: 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
Publication date: 01-04-2020
Publisher: Springer Berlin Heidelberg
Keywords: Dystonia
Epilepsy
Movement Disorder
Encephalopathy
Published in: Acta Neuropathologica / Issue 4/2020
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-020-02128-8

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Excerpt

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 4/2020

An update on the central nervous system manifestations of neurofibromatosis type 1

An update on the CNS manifestations of brain tumor polyposis syndromes

Correction to: An update on the CNS manifestations of neurofibromatosis type 2

An update on the central nervous system manifestations of DICER1 syndrome

An update on the central nervous system manifestations of Li–Fraumeni syndrome

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome