2021
DOI: 10.1038/s41431-021-00832-x
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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

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Cited by 8 publications
(7 citation statements)
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“…While the functions of the HEATR6 remains unclear, HEAT repeat proteins mediate important proteinprotein interactions involved in cytoplasmic and nuclear transport, microtubule dynamics and chromosome segregation 23 . Several HEAT repeat proteins were reported to cause neurological diseases [23][24][25] . HEATR6 showed high expression in multiple brain regions including midbrain, moreover, Heatr6 were reported to be altered in neurological diseases 26,27 and downregulated in the peripheral blood of patients with PD 12 .…”
Section: Discussionmentioning
confidence: 99%
“…While the functions of the HEATR6 remains unclear, HEAT repeat proteins mediate important proteinprotein interactions involved in cytoplasmic and nuclear transport, microtubule dynamics and chromosome segregation 23 . Several HEAT repeat proteins were reported to cause neurological diseases [23][24][25] . HEATR6 showed high expression in multiple brain regions including midbrain, moreover, Heatr6 were reported to be altered in neurological diseases 26,27 and downregulated in the peripheral blood of patients with PD 12 .…”
Section: Discussionmentioning
confidence: 99%
“…RNAi‐mediated knockdowns have implicated HEATR5B in AP1‐mediated cargo sorting in HeLa cells (Hirst et al , 2005), Drosophila imaginal discs (Le Bras et al , 2012) and C. elegans epidermal cells (Gillard et al , 2015). The importance of HEATR5B proteins is underscored by the recent finding that hypomorphic mutations in the human gene are associated with the neurodevelopmental syndrome pontocerebellar hypoplasia (Ghosh et al , 2021). However, the molecular function of HEATR5B is not clear in any of these systems.…”
Section: Resultsmentioning
confidence: 99%
“…Our observations of partially reduced AP1 localisation with the TGN and excessive tubulation of TGN‐associated membranes in HEATR5B deficient human cells is consistent with dynein‐mediated delivery of AP1 complexes contributing to post‐Golgi trafficking in other systems. To what extent defects in this and other aspects of AP1 trafficking are involved in the neurodevelopmental syndrome associated with hypomorphic HEATR5B mutations (Ghosh et al , 2021) is another important question to address in the future.…”
Section: Discussionmentioning
confidence: 99%
“…RNAi-mediated knockdowns have implicated HEATR5B in AP1-mediated cargo sorting in HeLa cells (Hirst et al, 2005), Drosophila imaginal discs (Le Bras et al, 2012) and C. elegans epidermal cells (Gillard et al, 2015). The importance of HEATR5B proteins is underscored by the recent finding that hypomorphic mutations in the human gene are associated with the neurodevelopmental syndrome pontocerebellar hypoplasia (Ghosh et al, 2021). However, the molecular function of HEATR5B is not clear in any of these systems.…”
Section: Heatr5b Associates With the Dynein Tail And Dynactinmentioning
confidence: 99%
“…Our observations of partially reduced AP1 localisation with the TGN and excessive tubulation of TGN-associated membranes in HEATR5B deficient human cells is consistent with dynein-mediated delivery of AP1 complexes contributing to post-Golgi trafficking in other systems. To what extent defects in this and other aspects of AP1 trafficking are involved in the neurodevelopmental syndrome associated with hypomorphic HEATR5B mutations (Ghosh et al, 2021) is another important question to address in the future.…”
Section: The Role Of Heatr5b and Dynein In Ap1-based Membrane Traffic...mentioning
confidence: 99%