ArticleHuman molecular genetics2009
Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 55 citations in OpenAlex.
- Hydrocephalus in Connection to Genetic Mutation in Cranial Neural Crest Cells.Orthodontics & craniofacial research · 2025Review
- Novel Insights into Emx2 and Dmrta2 Cooperation during Cortex Development and Evidence for Dmrta2 Function in the Choroid Plexus.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Global huntingtin knockout in adult mice leads to fatal neurodegeneration that spares the pancreas.Life science alliance · 2024Article
- Sensory-motor circuit is a therapeutic target forScience advances · 2024Article
- Piezo1 and Piezo2 collectively regulate jawbone development.Development (Cambridge, England) · 2024Article
- Cerebrospinal Fluid Flow in Patients with Huntington's Disease.Annals of neurology · 2023Article
- The choroid plexus: a missing link in our understanding of brain development and function.Physiological reviews · 2023Review
- Ependymal cells and neurodegenerative disease: outcomes of compromised ependymal barrier function.Brain communications · 2022Review
- Flying under the radar: CDH2 (N-cadherin), an important hub molecule in neurodevelopmental and neurodegenerative diseases.Frontiers in neuroscience · 2022Review
- Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ.Glycobiology · 2021Article
- Sox10-cre BAC transgenes reveal temporal restriction of mesenchymal cranial neural crest and identify glandular Sox10 expression.Developmental biology · 2021Article
- Gene Expression Profiling in Huntington's Disease: Does Comorbidity with Depressive Symptoms Matter?International journal of molecular sciences · 2020Article
- Cilia interactome with predicted protein-protein interactions reveals connections to Alzheimer's disease, aging and other neuropsychiatric processes.Scientific reports · 2020Article
- Cumulative inactivation of Nell-1 in Wnt1 expressing cell lineages results in craniofacial skeletal hypoplasia and postnatal hydrocephalus.Cell death and differentiation · 2020Article
- Cortical neurodevelopment in pre-manifest Huntington's disease.NeuroImage. Clinical · 2019Article
- Huntington Disease as a Neurodevelopmental Disorder and Early Signs of the Disease in Stem Cells.Molecular neurobiology · 2018Review
- Article
- Elimination of huntingtin in the adult mouse leads to progressive behavioral deficits, bilateral thalamic calcification, and altered brain iron homeostasis.PLoS genetics · 2017Article
- Is Huntingtin Dispensable in the Adult Brain?Journal of Huntington's disease · 2017Review
- The value of early and comprehensive diagnoses in a human fetus with hydrocephalus and progressive obliteration of the aqueduct of Sylvius: Case Report.BMC neurology · 2016Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huntingtin (htt) is a 350 kDa protein of unknown function, with no homologies with other known proteins. Expansion of a polyglutamine stretch at the N-terminus of htt causes Huntington's disease (HD), a dominant neurodegenerative disorder. Although it is generally accepted that HD is caused primarily by a gain-of-function mechanism, recent studies suggest that loss-of-function may also be part of HD pathogenesis. Huntingtin is an essential protein in the mouse since inactivation of the mouse HD homolog (Hdh) gene results in early embryonic lethality. Huntingtin is widely expressed in embryogenesis, and associated with a number of interacting proteins suggesting that htt may be involved in several processes including morphogenesis, neurogenesis and neuronal survival. To further investigate the role of htt in these processes, we have inactivated the Hdh gene in Wnt1 cell lineages using the Cre-loxP system of recombination. Here we show that conditional inactivation of the Hdh gene in Wnt1 cell lineages results in congenital hydrocephalus, implicating huntingtin for the first time in the regulation of cerebral spinal fluid (CSF) homeostasis. Our results show that hydrocephalus in mice lacking htt in Wnt1 cell lineages is associated with increase in CSF production by the choroid plexus, and abnormal subcommissural organ.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.