Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
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Title
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
Authors
Keywords
Skeletal muscle, Nemaline myopathy, Microtubules, Actin, Lamin, Nuclear envelope
Journal
ACTA NEUROPATHOLOGICA
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-06-19
DOI
10.1007/s00401-019-02034-8
References
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Note: Only part of the references are listed.- Ryanodine receptor type 3 (RYR3 ) as a novel gene associated with a myopathy with nemaline bodies
- (2018) Y. Nilipour et al. EUROPEAN JOURNAL OF NEUROLOGY
- Impaired muscle relaxation and mitochondrial fission associated with genetic ablation of cytoplasmic actin isoforms
- (2018) Allison R. O'Rourke et al. FEBS Journal
- SIRT1 regulates nuclear number and domain size in skeletal muscle fibers
- (2018) Jacob A. Ross et al. JOURNAL OF CELLULAR PHYSIOLOGY
- Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort
- (2018) Mauro Monforte et al. JOURNAL OF NEUROLOGY
- Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction
- (2018) Heinz Jungbluth et al. Nature Reviews Neurology
- Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles
- (2018) Alexandre Janin et al. Frontiers in Physiology
- Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction
- (2018) Muriel Sébastien et al. Skeletal Muscle
- Nesprin 1α2 is essential for mouse postnatal viability and nuclear positioning in skeletal muscle
- (2017) Matthew J. Stroud et al. JOURNAL OF CELL BIOLOGY
- Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle
- (2017) William Roman et al. NATURE CELL BIOLOGY
- Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
- (2017) Lukas J. Schnitzler et al. Orphanet Journal of Rare Diseases
- In situ click chemistry generation of cyclooxygenase-2 inhibitors
- (2017) Atul Bhardwaj et al. Nature Communications
- Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy
- (2016) Jennifer Tinklenberg et al. AMERICAN JOURNAL OF PATHOLOGY
- Mutation-specific effects on thin filament length in thin filament myopathy
- (2016) Josine M. de Winter et al. ANNALS OF NEUROLOGY
- Modulating myosin restores muscle function in a mouse model of nemaline myopathy
- (2016) Johan Lindqvist et al. ANNALS OF NEUROLOGY
- Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function
- (2016) Chun Chan et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation
- (2016) Matthias Baumann et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Exploring the Role of PGC-1α in Defining Nuclear Organisation in Skeletal Muscle Fibres
- (2016) Jacob Alexander Ross et al. JOURNAL OF CELLULAR PHYSIOLOGY
- Nucleus-dependent sarcomere assembly is mediated by the LINC complex
- (2016) Alexander L. Auld et al. MOLECULAR BIOLOGY OF THE CELL
- Myonuclear transcription is responsive to mechanical load and DNA content but uncoupled from cell size during hypertrophy
- (2016) Tyler J. Kirby et al. MOLECULAR BIOLOGY OF THE CELL
- Transcription upregulation via force-induced direct stretching of chromatin
- (2016) Arash Tajik et al. NATURE MATERIALS
- Tropomodulin 1 directly controls thin filament length in both wild-type and tropomodulin 4-deficient skeletal muscle
- (2015) D. S. Gokhin et al. DEVELOPMENT
- Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton
- (2015) Manuela D’Alessandro et al. DEVELOPMENTAL CELL
- LINC'ing form and function at the nuclear envelope
- (2015) Peter Meinke et al. FEBS LETTERS
- Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy
- (2015) Frank Li et al. HUMAN MOLECULAR GENETICS
- X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction
- (2015) Julien Ochala et al. JOURNAL OF STRUCTURAL BIOLOGY
- Detyrosinated microtubules modulate mechanotransduction in heart and skeletal muscle
- (2015) Jaclyn P. Kerr et al. Nature Communications
- A new directionality tool for assessing microtubule pattern alterations
- (2014) Wenhua Liu et al. Cytoskeleton
- N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy
- (2014) S. Falcone et al. EMBO Molecular Medicine
- Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle
- (2014) Mark A. Chapman et al. HUMAN MOLECULAR GENETICS
- Microtubule binding distinguishes dystrophin from utrophin
- (2014) J. J. Belanto et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization
- (2014) Peter Meinke et al. PLoS Genetics
- Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology
- (2013) Andreas Roos et al. ACTA NEUROPATHOLOGICA
- SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome
- (2013) Michael Krieger et al. BRAIN
- Translocating myonuclei have distinct leading and lagging edges that require Kinesin and Dynein
- (2013) E. S. Folker et al. DEVELOPMENT
- Distinct Underlying Mechanisms of Limb and Respiratory Muscle Fiber Weaknesses in Nemaline Myopathy
- (2013) Johan Lindqvist et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Steep Increase in Myonuclear Domain Size During Infancy
- (2012) Tammo Delhaas et al. Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology
- Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms
- (2012) J. Ochala et al. HUMAN MOLECULAR GENETICS
- MAP and kinesin-dependent nuclear positioning is required for skeletal muscle function
- (2012) Thomas Metzger et al. NATURE
- Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness
- (2012) Julien Ochala et al. PLoS One
- Microtubules Underlie Dysfunction in Duchenne Muscular Dystrophy
- (2012) R. J. Khairallah et al. Science Signaling
- Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic LargemydMouse
- (2012) Jacob Ross et al. STEM CELLS
- Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy
- (2011) Mai-Anh T. Nguyen et al. BRAIN
- Quadriceps myopathy caused by skeletal muscle-specific ablation of cyto-actin
- (2011) K. W. Prins et al. JOURNAL OF CELL SCIENCE
- Uncoordinated Transcription and Compromised Muscle Function in the Lmna-Null Mouse Model of Emery-Dreifuss Muscular Dystrophy
- (2011) Viola F. Gnocchi et al. PLoS One
- Effects of aging and gender on the spatial organization of nuclei in single human skeletal muscle cells
- (2010) Alexander Cristea et al. AGING CELL
- Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations
- (2010) Juergen Scharner et al. HUMAN MUTATION
- Reduced myofibrillar connectivity and increased Z-disk width in nebulin-deficient skeletal muscle
- (2010) P. Tonino et al. JOURNAL OF CELL SCIENCE
- The Nuclear Envelope
- (2010) M. W. Hetzer Cold Spring Harbor Perspectives in Biology
- Sizing up the nucleus: nuclear shape, size and nuclear-envelope assembly
- (2009) M. Webster et al. JOURNAL OF CELL SCIENCE
- SUN1 and SUN2 play critical but partially redundant roles in anchoring nuclei in skeletal muscle cells in mice
- (2009) K. Lei et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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