ArticleThe Journal of clinical investigation1999
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.
Article in The Journal of clinical investigation, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 51 citations in OpenAlex.
- Klhl41b orchestrates sarcomere assembly and growth to drive skeletal muscle hypertrophy in vivo.Skeletal muscle · 2026Article
- Congenital myopathy-related mutations in tropomyosin disrupt regulatory function through altered actin affinity and tropomodulin binding.The FEBS journal · 2019Article
- The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies.International journal of molecular sciences · 2018Article
- Tropomyosin 3.5 protects the F-actin networks required for tissue biomechanical properties.Journal of cell science · 2018Article
- Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.American journal of physiology. Heart and circulatory physiology · 2016Article
- Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.Brain : a journal of neurology · 2015Review
- Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.Journal of muscle research and cell motility · 2013Article
- Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.Human molecular genetics · 2012Article
- Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.Human molecular genetics · 2011Article
- Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.Journal of molecular medicine (Berlin, Germany) · 2008Review
- Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.Journal of neuropathology and experimental neurology · 2008Article
- Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.The Journal of physiology · 2008Article
- Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.The Journal of physiology · 2007Article
- Vertebrate tropomyosin: distribution, properties and function.Journal of muscle research and cell motility · 2001Review
- Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.Biophysical journal · 2000Article
- A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.American journal of human genetics · 2000Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nemaline myopathy (NM) is a rare autosomal dominant skeletal muscle myopathy characterized by severe muscle weakness and the subsequent appearance of nemaline rods within the muscle fibers. Recently, a missense mutation inTPM3, which encodes the slow skeletal alpha-tropomyosin (alphaTm), was linked to NM in a large kindred with an autosomal-dominant, childhood-onset form of the disease. We used adenoviral gene transfer to fully differentiated rat adult myocytes in vitro to determine the effects of NM mutant human alphaTm expression on striated muscle sarcomeric structure and contractile function. The mutant alphaTm was expressed and incorporated correctly into sarcomeres of adult muscle cells. The primary defect caused by expression of the mutant alphaTm was a decrease in the sensitivity of contraction to activating Ca(2+), which could help explain the hypotonia seen in NM. Interestingly, NM mutant alphaTm expression did not directly result in nemaline rod formation, which suggests that rod formation is secondary to contractile dysfunction and that load-dependent processes are likely involved in nemaline rod formation in vivo.
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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.