Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms-Reference-Cited by-同舟云学术

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Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms

Published:2012-07-13 Issue:20 Volume:21 Page:4473-4485
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Ochala J.,Gokhin D. S.,Penisson-Besnier I.,Quijano-Roy S.,Monnier N.,Lunardi J.,Romero N. B.,Fowler V. M.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/21/20/4473/1854610/dds289.pdf

Reference64 articles.

1. Tropomyosin and the Steric Mechanism of Muscle Regulation

2. Thin filament proteins mutations associated with skeletal myopathies: Defective regulation of muscle contraction

3. Defective regulation of contractile function in muscle fibres carrying an E41K β-tropomyosin mutation

4. Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy

5. Clinical and genetic heterogeneity in nemaline myopathy – a disease of skeletal muscle thin filaments

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1. Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia;Neuromuscular Disorders;2024-02

2. Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization;International Journal of Molecular Sciences;2023-11-17

3. Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy;Skeletal Muscle;2023-11-07

4. Small molecule drugs to improve sarcomere function in those with acquired and inherited myopathies;American Journal of Physiology-Cell Physiology;2023-07-01

5. Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration;2023-05-16

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