Associated Papers
ANO10 Function in Health and Disease.
Chrysanthou A et al.
Cerebellum (london, England), 2023
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.
Massey S et al.
Neurology. Genetics, 2023
Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.
Aida I et al.
Internal Medicine (tokyo, Japan), 2022
Gating and Regulatory Mechanisms of TMEM16 Ion Channels and Scramblases.
Le SC et al.
Frontiers in Physiology, 2021
An Additional Ca2+ Binding Site Allosterically Controls TMEM16A Activation.
Le SC et al.
Cell Reports, 2020
TMEM16K is an interorganelle regulator of endosomal sorting.
Petkovic M et al.
Nature Communications, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.
Bushell SR et al.
Nature Communications, 2019
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
Nanetti L et al.
Journal of Neurology, 2019
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
29795570 (PubMed )
Supplement: pgen.1007329.s012.xlsx › Data_File_S3
Role of Ca(2+) in the Stability and Function of TMEM16F and 16K.
Ishihara K et al.
Biochemistry, 2016
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.
Keogh MJ et al.
Journal of Neurology, 2015
Respiratory chain deficiency in nonmitochondrial disease.
Pyle A et al.
Neurology. Genetics, 2015
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Balreira A et al.
Journal of Neurology, 2014
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