The transition zone protein AHI1 regulates neuronal ciliary trafficking of MCHR1 and its downstream signaling pathway
YC Hsiao, J Muñoz-Estrada, K Tuz… - Journal of …, 2021 - Soc Neuroscience
The Abelson-helper integration site 1 (AHI1) gene encodes for a ciliary transition zone
localizing protein that when mutated causes the human ciliopathy, Joubert syndrome. We …
localizing protein that when mutated causes the human ciliopathy, Joubert syndrome. We …
Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration
J Muñoz-Estrada, RJ Ferland - Journal of Cell Science, 2019 - journals.biologists.com
Mutations in the Abelson-helper integration site 1 (AHI1) gene are associated with
neurological/neuropsychiatric disorders, and cause the neurodevelopmental ciliopathy …
neurological/neuropsychiatric disorders, and cause the neurodevelopmental ciliopathy …
[HTML][HTML] Firing activity of locus coeruleus noradrenergic neurons decreases in necdin-deficient mice, an animal model of Prader–Willi syndrome
RN Wu, WC Hung, CT Chen, LP Tsai, WS Lai… - Journal of …, 2020 - Springer
Abstract Background Prader–Willi syndrome (PWS) is a neurodevelopmental disorder
characterized by multiple respiratory, cognitive, endocrine, and behavioral symptoms, such …
characterized by multiple respiratory, cognitive, endocrine, and behavioral symptoms, such …
[HTML][HTML] Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells
R Wang, C Liu, W Guo, L Wang, S Chen, J Zhao… - Brain Research …, 2022 - Elsevier
Abstract Ferric Chelate Reductase 1 Like (FRRS1L) protein has in recent years been
identified as an auxiliary regulatory protein for the α-amino-3-hydroxy-5-methyl-4-isoxazole …
identified as an auxiliary regulatory protein for the α-amino-3-hydroxy-5-methyl-4-isoxazole …
[HTML][HTML] Parental knowledge of children's developmental milestones in Aseer, Saudi Arabia
AS Habbash, A Qatomah, R Al-Doban… - Journal of Family …, 2022 - journals.lww.com
Background: Better parental knowledge about developmental milestones of children is
linked to better parent–child interaction. Only a handful of surveys have been conducted to …
linked to better parent–child interaction. Only a handful of surveys have been conducted to …
[HTML][HTML] Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome
H Wang, W Nie, C Wang, Z Wang, Y Zheng - Open Life Sciences, 2023 - degruyter.com
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with
CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were …
CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were …
The Ciliary Protein Arl13b Regulates Axon Guidance in the Developing Mouse Hindbrain
SK Suciu - 2020 - search.proquest.com
This dissertation covers questions of how localization of a protein known to be associated
within the privileged environment of the primary cilium affects signaling and signal …
within the privileged environment of the primary cilium affects signaling and signal …