Cilia, neural development and disease

Suciu, Sarah K.; Caspary, Tamara

doi:10.1016/j.semcdb.2020.07.014

Cited by 35 publications

(38 citation statements)

References 101 publications

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“…Primary cilia play critical roles in the fundamental steps of neurodevelopment and mutations in cilia-associated proteins shall cause human ciliopathy-related neuropathies [38]. Recent studies have revealed that cilia-associated protein deletion in the neural cells inhibited cell migration, cell differentiation, and neuron connectivity [39][40][41].…”

Section: Discussionmentioning

confidence: 99%

Centrosomal protein FOR20 knockout mice display embryonic lethality and left‐right patterning defects

Liu

Gao

et al. 2021

FEBS Letters

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Centrosomal protein FOR20 has been reported to be crucial for essential cellular processes, including ciliogenesis, cell migration, and cell cycle in vertebrates. However, the function of FOR20 during mammalian embryonic development remains unknown. To investigate the in vivo function of the For20 gene in mammals, we generated For20 homozygous knockout mice by gene targeting. Our data reveal that homozygous knockout of For20 results in significant embryonic growth arrest and lethality during gestation, while the heterozygotes show no obvious defects. The absence of For20 leads to impaired left-right patterning of embryos and reduced cilia in the embryonic node. Deletion of For20 also disrupts angiogenesis in yolk sacs and embryos. These results highlight a critical role of For20 in early mammalian embryogenesis.

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Section: Discussionmentioning

confidence: 99%

Centrosomal protein FOR20 knockout mice display embryonic lethality and left‐right patterning defects

Liu

Gao

et al. 2021

FEBS Letters

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“…Human patients with ciliopathies, such as Joubert syndrome, can show pronounced abnormalities in the formation of the central nervous system (CNS). Translating observations from humans into model organisms has helped characterize pathological processes related to the loss of functional primary cilia at different levels, such as neuronal differentiation, migration, and axon tract formation [ 18 , 19 , 20 ]. However, to date, the potential role that the primary cilium might play during the formation of the peripheral nervous system is still poorly characterized, although several studies have suggested such a role [ 21 , 22 ].…”

Section: Introductionmentioning

confidence: 99%

Investigating Primary Cilia during Peripheral Nervous System Formation

Yusifov

Dumoulin

Stoeckli

2021

IJMS

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The primary cilium plays a pivotal role during the embryonic development of vertebrates. It acts as a somatic signaling hub for specific pathways, such as Sonic Hedgehog signaling. In humans, mutations in genes that cause dysregulation of ciliogenesis or ciliary function lead to severe developmental disorders called ciliopathies. Beyond its role in early morphogenesis, growing evidence points towards an essential function of the primary cilium in neural circuit formation in the central nervous system. However, very little is known about a potential role in the formation of the peripheral nervous system. Here, we investigate the presence of the primary cilium in neural crest cells and their derivatives in the trunk of developing chicken embryos in vivo. We found that neural crest cells, sensory neurons, and boundary cap cells all bear a primary cilium during key stages of early peripheral nervous system formation. Moreover, we describe differences in the ciliation of neuronal cultures of different populations from the peripheral and central nervous systems. Our results offer a framework for further in vivo and in vitro investigations on specific roles that the primary cilium might play during peripheral nervous system formation.

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“…Lastly, we found that UNC-45A is abundantly expressed in both the ciliated columnar epithelium of the fallopian tube and the cilia of the ependymocytes. Interestingly, congenital loss-of-function mutations in UNC-45A cause a syndrome characterized by diarrhea, cholestasis, bone fragility, and impaired hearing [ 56 ], all of which symptoms involve organs where cilia play important roles in physiology [ 57 , 58 , 59 ]. Furthermore, almost all of the subjects affected by congenital UNC-45A loss have signs of intellectual disability [ 56 ].…”

Section: Discussionmentioning

confidence: 99%

UNC-45A Is Highly Expressed in the Proliferative Cells of the Mouse Genital Tract and in the Microtubule-Rich Areas of the Mouse Nervous System

Clemente

Hoshino

Meints

et al. 2021

Cells

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UNC-45A (Protein unc-45 homolog A) is a cytoskeletal-associated protein with a dual and non-mutually exclusive role as a regulator of the actomyosin system and a Microtubule (MT)-destabilizing protein, which is overexpressed in human cancers including in ovarian cancer patients resistant to the MT-stabilizing drug paclitaxel. Mapping of UNC-45A in the mouse upper genital tract and central nervous system reveals its enrichment not only in highly proliferating and prone to remodeling cells, but also in microtubule-rich areas, of the ovaries and the nervous system, respectively. In both apparatuses, UNC-45A is also abundantly expressed in the ciliated epithelium. As regulators of actomyosin contractility and MT stability are essential for the physiopathology of the female reproductive tract and of neuronal development, our findings suggest that UNC-45A may have a role in ovarian cancer initiation and development as well as in neurodegeneration.

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Cilia, neural development and disease

Cited by 35 publications

References 101 publications

Centrosomal protein FOR20 knockout mice display embryonic lethality and left‐right patterning defects

Centrosomal protein FOR20 knockout mice display embryonic lethality and left‐right patterning defects

Investigating Primary Cilia during Peripheral Nervous System Formation

UNC-45A Is Highly Expressed in the Proliferative Cells of the Mouse Genital Tract and in the Microtubule-Rich Areas of the Mouse Nervous System

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