Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies
Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues. Several important signaling pathways are regulated through the p...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-12-01
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| Series: | Journal of Developmental Biology |
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| Online Access: | https://www.mdpi.com/2221-3759/10/4/54 |
| _version_ | 1797457020444475392 |
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| author | Vasiliki Karalis Kathleen E. Donovan Mustafa Sahin |
| author_facet | Vasiliki Karalis Kathleen E. Donovan Mustafa Sahin |
| author_sort | Vasiliki Karalis |
| collection | DOAJ |
| description | Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues. Several important signaling pathways are regulated through the primary cilium including Sonic Hedgehog (Shh) and Wnt signaling. Therefore, it is no surprise that mutated genes encoding defective proteins that affect primary cilia function or structure are responsible for a group of disorders collectively termed ciliopathies. The severe neurologic abnormalities observed in several ciliopathies have prompted examination of primary cilia structure and function in other brain disorders. Recently, neuronal primary cilia defects were observed in monogenic neurodevelopmental disorders that were not traditionally considered ciliopathies. The molecular mechanisms of how these genetic mutations cause primary cilia defects and how these defects contribute to the neurologic manifestations of these disorders remain poorly understood. In this review we will discuss monogenic neurodevelopmental disorders that exhibit cilia deficits and summarize findings from studies exploring the role of primary cilia in the brain to shed light into how these deficits could contribute to neurologic abnormalities. |
| first_indexed | 2024-03-09T16:16:10Z |
| format | Article |
| id | doaj.art-c5d9279807464a9b8de927f88d1a4e94 |
| institution | Directory Open Access Journal |
| issn | 2221-3759 |
| language | English |
| last_indexed | 2024-03-09T16:16:10Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Developmental Biology |
| spelling | doaj.art-c5d9279807464a9b8de927f88d1a4e942023-11-24T15:48:36ZengMDPI AGJournal of Developmental Biology2221-37592022-12-011045410.3390/jdb10040054Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond CiliopathiesVasiliki Karalis0Kathleen E. Donovan1Mustafa Sahin2The Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USAThe Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USAThe Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USAPrimary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues. Several important signaling pathways are regulated through the primary cilium including Sonic Hedgehog (Shh) and Wnt signaling. Therefore, it is no surprise that mutated genes encoding defective proteins that affect primary cilia function or structure are responsible for a group of disorders collectively termed ciliopathies. The severe neurologic abnormalities observed in several ciliopathies have prompted examination of primary cilia structure and function in other brain disorders. Recently, neuronal primary cilia defects were observed in monogenic neurodevelopmental disorders that were not traditionally considered ciliopathies. The molecular mechanisms of how these genetic mutations cause primary cilia defects and how these defects contribute to the neurologic manifestations of these disorders remain poorly understood. In this review we will discuss monogenic neurodevelopmental disorders that exhibit cilia deficits and summarize findings from studies exploring the role of primary cilia in the brain to shed light into how these deficits could contribute to neurologic abnormalities.https://www.mdpi.com/2221-3759/10/4/54primary ciliaciliopathiesneurodevelopmental disorderssignaling |
| spellingShingle | Vasiliki Karalis Kathleen E. Donovan Mustafa Sahin Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies Journal of Developmental Biology primary cilia ciliopathies neurodevelopmental disorders signaling |
| title | Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies |
| title_full | Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies |
| title_fullStr | Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies |
| title_full_unstemmed | Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies |
| title_short | Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies |
| title_sort | primary cilia dysfunction in neurodevelopmental disorders beyond ciliopathies |
| topic | primary cilia ciliopathies neurodevelopmental disorders signaling |
| url | https://www.mdpi.com/2221-3759/10/4/54 |
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