|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations of the desmin gene have been reported to cause familial or sporadic forms of human skeletal, as well as cardiac, myopathy, termed desmin-related myopathy (DRM).
|
16217025 |
2005 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy.
|
24098483 |
2013 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe and comprehensively characterize two DES mutations found in Polish patients with a clinical diagnosis of desminopathy.
|
25541946 |
2014 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first time that a mutation affecting this domain in the desmin molecule is described in a desminopathy.
|
20133133 |
2010 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
Desminopathy is a neuromuscular disorder associated with the accumulation of the protein desmin.
|
15078418 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin.
|
14991347 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
Muscle cell lines transfected with the mutant CRYAB cDNA showed intracellular aggregates that contain both desmin and alphaB-crystallin as observed in muscle fibers from DRM patients.
|
9731540 |
1998 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated newly generated immortalized heterozygous and homozygous R349P desmin knock-in myoblasts in conjunction with the corresponding desminopathy mice as models for desminopathies to analyse major protein quality control processes in response to the presence of R349P mutant desmin.
|
30179276 |
2019 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
Meanwhile apoptosis related proteins bax and ATF2 were involved in desminopathy patients and desminopathy rat model, but not bcl-2, bcl-xl or HK2.VDAC1 and desmin are closely relevant in the tissue splices of deminopathies patients and rats with desminopathy at protein lever.
|
27941998 |
2016 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
The expression patterns of protein associated with MPTP indicate that desmin might affect MPTP complex as potential targets involved in mitochondrial dysfunction in desminopathy.
|
27719747 |
2017 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
To assess the clinical, genetic, and myopathologic findings in 2 cousins with lack of desmin, the response to salbutamol in one patient, and the neuromuscular endplate pathology in a knock-in mouse model for recessive desminopathy.
|
27440146 |
2016 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Involvement of the desmin gene (DES) has been excluded in three families diagnosed with desmin-related myopathy.
|
9697706 |
1998 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
Biomarker
|
disease |
BEFREE |
Western blot for myotubularin and desmin has been proposed as a useful diagnostic test for both X-linked myotubular myopathy and desmin-related myopathy, and in-vitro and mouse models for the latter have provided insights into its pathogenesis.
|
12351999 |
2002 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taken together, our findings provide novel insights into the basic intermediate filament assembly mechanisms and offer clues as to how amino acid changes within the desmin rod domain may interfere with the normal structural organization of the muscle cytoskeleton, eventually leading to desminopathy.
|
16828798 |
2006 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the desmin gene have been recognized as a cause of desminopathy, a familial or sporadic disorder characterized by skeletal muscle weakness, often associated with cardiomyopathy or respiratory insufficiency.
|
16865695 |
2006 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study enlarges the spectrum of desmin mutations and geographic distribution of desminopathy.
|
20696008 |
2011 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Except for two different DES mutations (p.N342D and p.R454W) in two families with DRM and severe biventricular cardiomyopathy, respectively, we did not find additional DES mutations in ARVC(-like) patients.
|
20423733 |
2010 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation (R120G) in CryAB that is linked to human desmin-related myopathy (DRM), has proved in transgenic (TG) mice to be causative, likely through compromising the function of both CryAB and desmin filaments and inducing aberrant protein aggregation.
|
15572040 |
2004 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Desmin-related myofibrillar myopathy (DRM) is a cardiac and skeletal muscle disease caused by mutations in the desmin (DES) gene.
|
17325244 |
2007 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy.
|
23815709 |
2013 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy.
|
10545598 |
1999 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Desminopathy is one of the most common intermediate filament human disorders associated with mutations in closely interacting proteins, desmin and alphaB-crystallin.
|
19181099 |
2008 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the desmin gene have been described as a cause of desmin-related myopathy (OMIM 601419).
|
17720647 |
2007 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
|
11668632 |
2001 |
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We performed detailed genotype-phenotype analysis of autosomal dominant desminopathy associated with tail domain mutations in a four-generation autosomal dominant family with 16 members affected by a progressive cardiac and/or skeletal myopathy caused by a c.1346A>C (p.Lys449Thr) mutation located in the tail domain of desmin.
|
23051780 |
2012 |