ArticleJournal of neurology2012
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.
Article in Journal of neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 42 citations in OpenAlex.
- CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias.Cerebellum (London, England) · 2024Review
- ANO10 Function in Health and Disease.Cerebellum (London, England) · 2023Review
- ANO10 is a potential prognostic biomarker and correlates with immune infiltration in breast cancer.American journal of cancer research · 2023Article
- The allosteric mechanism leading to an open-groove lipid conductive state of the TMEM16F scramblase.Communications biology · 2022Article
- Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.Internal medicine (Tokyo, Japan) · 2022Article
- Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10).BMJ case reports · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology · 2021Review
- TMEM16K is an interorganelle regulator of endosomal sorting.Nature communications · 2020Article
- Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel HomozygousJournal of clinical neurology (Seoul, Korea) · 2020Article
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
- The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.Nature communications · 2019Article
- Anoctamin 1/TMEM16A controls intestinal ClExperimental & molecular medicine · 2019Article
- ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.Journal of neurology · 2019Observational
- Known structures and unknown mechanisms of TMEM16 scramblases and channels.The Journal of general physiology · 2018Review
- A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Human mutation · 2018Article
- Systematic review of autosomal recessive ataxias and proposal for a classification.Cerebellum & ataxias · 2017Review
- Anoctamins support calcium-dependent chloride secretion by facilitating calcium signaling in adult mouse intestine.Pflugers Archiv : European journal of physiology · 2015Article
- A Coding Variant of ANO10, Affecting Volume Regulation of Macrophages, Is Associated with Borrelia Seropositivity.Molecular medicine (Cambridge, Mass.) · 2015Article
- ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.Journal of neurology · 2014Article
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A recent report (Vermeer et al. in Am J Hum Genet 87:813-819, 2010) implicated for the first time the ANO10 gene in the genetic basis of autosomal recessive cerebellar ataxias. One of the three described families were Roma/Gypsies from Serbia, where the affected individuals were homozygous for the truncating p.Leu384fs mutation and displayed distinct phenotypic features (Vermeer et al. in Am J Hum Genet 87:813-819, 2010). Based on the history and population genetics of the Roma/Gypsies, we hypothesised that p.Leu384fs could be another founder mutation in this population, whose identification in a larger number of genetically homogeneous patients will contribute to defining the phenotypic spectrum of the disorder. Here, we describe additional patients from neighbouring Bulgaria, outlining invariable ANO10-ataxia features and confirming global intellectual decline as part of the phenotype resulting from complete Anactomin 10 deficit.
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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.