2023
DOI: 10.1080/01677063.2023.2187792
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A conserved function of Pkhd1l1, a mammalian hair cell stereociliary coat protein, in regulating hearing in zebrafish

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Cited by 5 publications
(8 citation statements)
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“…Mice lacking Pkdh1l1 displayed elevated auditory brainstem responses (ABR) and distortion product otoacoustic emissions (DPOAE) thresholds in response to pure tone stimuli in a progressive fashion (Wu et al 2019), and lacked the stereocilia coat. More recent data from zebrafish (Danio rerio, Dr) with a double knockout of pkhd1l1a and pkhd1l1b (orthologs of human (Hs) PKHD1L1) show significant deficits in auditory startle responses at the larval stage, consistent with an early-onset auditory phenotype in zebrafish (Makrogkikas et al 2023). Based on these findings in animal models, we sought to determine whether variants in PKHD1L1 cause hearing loss in humans.…”
Section: Introductionmentioning
confidence: 83%
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“…Mice lacking Pkdh1l1 displayed elevated auditory brainstem responses (ABR) and distortion product otoacoustic emissions (DPOAE) thresholds in response to pure tone stimuli in a progressive fashion (Wu et al 2019), and lacked the stereocilia coat. More recent data from zebrafish (Danio rerio, Dr) with a double knockout of pkhd1l1a and pkhd1l1b (orthologs of human (Hs) PKHD1L1) show significant deficits in auditory startle responses at the larval stage, consistent with an early-onset auditory phenotype in zebrafish (Makrogkikas et al 2023). Based on these findings in animal models, we sought to determine whether variants in PKHD1L1 cause hearing loss in humans.…”
Section: Introductionmentioning
confidence: 83%
“…Furthermore, it is unknown whether PKHD1L1 is the only component of the stereocilia coat. Recently, pkhd1l1 was shown to play a critical role in regulating hearing in zebrafish (Makrogkikas et al 2023). pkhdl1l has a ubiquitous expression pattern and is sustained for most of embryonic development (Makrogkikas et al 2023).…”
Section: Discussionmentioning
confidence: 99%
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“…PKHD1L1-deficient mice showed no major morphological disruption to hair bundles at the onset of hearing; however, after initially exhibiting near-normal ABR and DPOAE thresholds, develop progressive hearing loss later in life (Wu et al, 2019). Similarly, auditory disruption has also been described in zebrafish deficient in PKHD1L1 (Makrogkikas et al, 2023). Double knockout of pkhd1l1 zebrafish paralogs, pkhd1l1α and pkhd1l1β, reduces auditory-evoked startle responses in zebrafish at larvae stages, indicative of an early-onset hearing loss.…”
Section: Introductionmentioning
confidence: 94%
“…Similarly, knockout of pkhd1l1 zebrafish paralogs, pkhd1l1α and pkhd1l1β, reduces auditory-evoked startle responses in zebrafish at larval stages, indicative of an early-onset hearing loss. (Makrogkikas et al, 2023). In humans, we recently reported biallelic variants of PKHD1L1 in four unrelated families with congenital non-syndromic sensorineural hearing loss (Redfield et al, 2024).…”
Section: Introductionmentioning
confidence: 99%