ArticleDevelopmental biology2019
Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement.
Article in Developmental biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 11 citations in OpenAlex.
- GABAergic regulation of Locus coeruleus activity in necdin-deficient mice, an animal model of Prader-Willi syndrome.Journal of neurodevelopmental disorders · 2025Article
- Mouse metastable epialleles are extremely rare.Nucleic acids research · 2025Article
- NovelOpen life sciences · 2023Article
- Parental knowledge of children's developmental milestones in Aseer, Saudi Arabia.Journal of family medicine and primary care · 2022Article
- The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Firing activity of locus coeruleus noradrenergic neurons decreases in necdin-deficient mice, an animal model of Prader-Willi syndrome.Journal of neurodevelopmental disorders · 2020Article
- Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration.Journal of cell science · 2019Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Joubert syndrome (JBTS) is a predominantly autosomal recessive neurodevelopmental disorder that presents with characteristic malformations of the cerebellar vermis, superior cerebellar peduncles and midbrain in humans. Accompanying these malformations are a heterogeneous set of clinical symptoms, which frequently include deficits in motor and muscle function, such as hypotonia (low muscle tone) and ataxia (clumsiness). These symptoms are attributed to improper development of the hindbrain, but no direct evidence has been reported linking these in JBTS. Here, we describe muscle developmental defects in a mouse with a targeted deletion of the Abelson helper integration site 1 gene, Ahi1, one of the genes known to cause JBTS in humans. While FVB/NJ Ahi1
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