Results 91 to 100 of about 2,278 (204)
The FEBS Journal, Volume 292, Issue 20, Page 5525-5539, October 2025.A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng +2 more
wiley +1 more source
PLoS ONE, 2018 Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently
Sarah Moreau-Le Lan +13 more
doaj +1 more source
, 2011 Excitation-contraction coupling involves the faithful conversion of electrical stimuli to mechanical shortening in striated muscle cells, enabled by the ubiquitous second messenger, calcium.
Capes E Michelle +2 more
core +2 more sources
Study of actin mutations linked to muscle disease
, 2008 Imperial Users ...
Feng , Juanjuan, Feng , Juanjuan
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Actin Dynamics in Muscle Cells [PDF]
, 2009 In every cell, actin is a key component involved in migration, cytokinesis, endocytosis and generation of contraction. In non-muscle cells, actin filaments are very dynamic and regulated by an array of proteins that interact with actin filaments and/or ...
Skwarek-Maruszewska, Aneta
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Current and future therapeutic approaches to the congenital myopathies [PDF]
, 2016 The congenital myopathies − including Central Core Disease (CCD), Multi-minicore Disease (MmD), Centronuclear Myopathy (CNM), Nemaline Myopathy (NM) and Congenital Fibre Type Disproportion (CFTD) − are a genetically heterogeneous group of early-onset ...
Gautel, Mathias +3 more
core +3 more sources
Skeletal and Cardiac Myopathy with Acquired Factor X Deficiency in a Patient with Monoclonal Gammopathy of Clinical Significance: A Rare Case Report [PDF]
Journal of Clinical and Diagnostic ResearchMonoclonal gammopathies include several types of plasma cell proliferative disorders, which might be benign to malignant. Monoclonal Gammopathy of Clinical Significance (MGCS) refers to small plasma cell clones that cause organ damage without meeting ...
Pragya Garg +3 more
doaj +1 more source
Therapeutic Aspects in Congenital Myopathies [PDF]
, 2019 The congenital myopathies are a genetically heterogeneous and diverse group of early-onset, nondystrophic neuromuscular disorders. While the originally reported “classical” entities within this group – Central Core Disease, Multiminicore Disease ...
Jungbluth, Heinz, Muntoni, Francesco
core +3 more sources
Frontiers in Physiology, 2016 Troponin T (TnT) is the sarcomeric thin filament anchoring subunit of the troponin complex in striated muscles. A nonsense mutation in exon 11 of the slow skeletal muscle isoform of TnT (ssTnT) gene (TNNT1) was found in the Amish populations in ...
Anupom Mondal, J-P Jin
doaj +1 more source
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms [PDF]
, 2017 We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle α-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased γ-filamin, myotilin, desmin and α-actinin in many NM patients, consistent
Clement, Sophie +8 more
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