Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency-Reference-Cited by-同舟云学术

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Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

Published:2009-04-04 Issue:13 Volume:18 Page:2359-2369
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Ottenheijm C. A.C.,Witt C. C.,Stienen G. J.,Labeit S.,Beggs A. H.,Granzier H.

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/18/13/2359/1530454/ddp168.pdf

Reference31 articles.

1. The three-dimensional structure of the nemaline rod Z-band.

2. Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

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

4. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

5. Architecture of the sarcomere matrix of skeletal muscle: immunoelectron microscopic evidence that suggests a set of parallel inextensible nebulin filaments anchored at the Z line.

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1. Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin‐deficient muscle;The Journal of Physiology;2024-08-31

2. Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle;2024-05-10

3. Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects;Acta Neuropathologica;2024-04-18

4. Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease;Science Translational Medicine;2024-04-03

5. Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy;Human Molecular Genetics;2024-03-17

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