ArticleHuman molecular genetics2012
Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
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Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- Putative Animal Models of Restless Legs Syndrome: A Systematic Review and Evaluation of Their Face and Construct Validity.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Pooled it
- Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.Nature genetics · 2019Pooled it
- Elucidating the susceptibility genes between insomnia and migraine by integrating genetic data and transcriptomes.The journal of headache and pain · 2026Article
- A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice.Sleep · 2024Article
- Exploring the causes of augmentation in restless legs syndrome.Frontiers in neurology · 2023Review
- Effects of iron-deficient diet on sleep onset and spinal reflexes in a rodent model of Restless Legs Syndrome.Frontiers in neurology · 2023Article
- Genome-Wide Association Analysis Reveals Novel Loci Related with Visual Score Traits in Nellore Cattle Raised in Pasture-Based Systems.Animals : an open access journal from MDPI · 2022Article
- Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.Neuroscience · 2022Article
- The Aetiology of Tourette Syndrome and Chronic Tic Disorder in Children and Adolescents: A Comprehensive Systematic Review of Case-Control Studies.Brain sciences · 2022Review
- Restless legs syndrome: Over 50 years of European contribution.Journal of sleep research · 2022Review
- Consensus guidelines on the construct validity of rodent models of restless legs syndrome.Disease models & mechanisms · 2022Article
- Integrative Proteome and Ubiquitinome Analyses Reveal the Substrates of BTBD9 and Its Underlying Mechanism in Sleep Regulation.ACS omega · 2022Article
- Restless legs syndrome.Nature reviews. Disease primers · 2021Review
- Alteration of the cholinergic system and motor deficits in cholinergic neuron-specific Dyt1 knockout mice.Neurobiology of disease · 2021Article
- Consensus Guidelines on Rodent Models of Restless Legs Syndrome.Movement disorders : official journal of the Movement Disorder Society · 2021Review
- Deficiency of Meis1, a transcriptional regulator, in mice and worms: Neurochemical and behavioral characterizations with implications in the restless legs syndrome.Journal of neurochemistry · 2020Article
- Unraveling the Mysteries of Restless Leg Syndrome.Cureus · 2020Review
- Mu opioid receptor knockout mouse: Phenotypes with implications on restless legs syndrome.Journal of neuroscience research · 2020Article
- The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.Neuroscience · 2020Article
- BTBD9 and dopaminergic dysfunction in the pathogenesis of restless legs syndrome.Brain structure & function · 2020Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
Restless legs syndrome (RLS), also known as Willis-Ekbom disease, is a sensory-motor neurological disorder with a circadian component. RLS is characterized by uncomfortable sensations in the extremities, generally at night or during sleep, which often leads to an uncontrollable urge to move them for relief. Recently, genomic studies identified single-nucleotide polymorphisms in BTBD9, along with three other genes, as being associated with a higher risk of RLS. Little is known about the function of BTBD9 or its potential role in the pathophysiology of RLS. We therefore examined a line of Btbd9 mutant mice we recently generated for phenotypes similar to symptoms found in RLS patients. We observed that the Btbd9 mutant mice had motor restlessness, sensory alterations likely limited to the rest phase, and decreased sleep and increased wake times during the rest phase. Additionally, the Btbd9 mutant mice had altered serum iron levels and monoamine neurotransmitter systems. Furthermore, the sensory alterations in the Btbd9 mutant mice were relieved using ropinirole, a dopaminergic agonist widely used for RLS treatment. These results, taken together, suggest that the Btbd9 mutant mice model several characteristics similar to RLS and would therefore be the first genotypic mouse model of RLS. Furthermore, our data provide further evidence that BTBD9 is involved in RLS, and future studies of the Btbd9 mutant mice will help shine light on its role in the pathophysiology of RLS. Finally, our data argue for the utility of Btbd9 mutant mice to discover and screen novel therapeutics for RLS.
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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.