ArticleBiochemical and biophysical research communications2012
KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.
Article in Biochemical and biophysical research communications, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 39 citations in OpenAlex.
- The role of ubiquitination in the pathogenesis of atrial fibrillation: mechanisms and therapeutic implications.Frontiers in pharmacology · 2026Review
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- KBTBD13 is a novel cardiomyopathy gene.Human mutation · 2022Article
- The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease.International journal of molecular sciences · 2020Review
- KBTBD13 is an actin-binding protein that modulates muscle kinetics.The Journal of clinical investigation · 2020Article
- Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.Human molecular genetics · 2019Article
- Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.Human molecular genetics · 2019Article
- Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy.JCI insight · 2019Article
- KBTBD11, a novel BTB-Kelch protein, is a negative regulator of osteoclastogenesis through controlling Cullin3-mediated ubiquitination of NFATc1.Scientific reports · 2019Article
- Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.Acta neuropathologica communications · 2018Article
- Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.Acta neuropathologica communications · 2018Article
- Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.Nature reviews. Neurology · 2018Review
- Drug resistance in Plasmodium.Nature reviews. Microbiology · 2018Review
- Cullin 3-Based Ubiquitin Ligases as Master Regulators of Mammalian Cell Differentiation.Trends in biochemical sciences · 2018Review
- Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.BMC neurology · 2015Article
- Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.Acta neuropathologica · 2015Article
- Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy.Disease models & mechanisms · 2015Article
- Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.Brain : a journal of neurology · 2015Review
- Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.Skeletal muscle · 2015Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Autosomal dominant mutations in BTB and Kelch domain containing 13 protein (KBTBD13) are associated with a new type of Nemaline Myopathy (NEM). NEM is a genetically heterogeneous group of muscle disorders. Mutations causing phenotypically distinct NEM variants have previously been identified in components of muscle thin filament. KBTBD13 is a muscle specific protein composed of an N terminal BTB domain and a C terminal Kelch-repeat domain. The function of this newly identified protein in muscle remained unknown. In this study, we show that KBTBD13 interacts with Cullin 3 (Cul3) and the BTB domain mediates this interaction. Using ubiquitination assays, we determined that KBTBD13 participates in the formation of a Cul3 based RING ubiquitin ligase (Cul3-RL) capable of ubiquitin conjugation. Confocal microscopy of transiently expressed KBTBD13 revealed its co-localization with ubiquitin. Taken together, our results demonstrate that KBTBD13 is a putative substrate adaptor for Cul3-RL that functions as a muscle specific ubiquitin ligase, and thereby implicate the ubiquitin proteasome pathway in the pathogenesis of KBTBD13-associated NEM.
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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.