|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Notably, the myopathy-associated mutation of BAG3 (P209L), which lies within the HSPB8-binding motif, deregulated the association between BAG3 and p62/SQSTM1 and the KEAP1-Nrf2 signaling axis.
|
29405094 |
2018 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
This case illustrates that counseling of patients with BAG3 myopathy should not predict an inevitable occurrence of cardiomyopathy.
|
30061062 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in either the IPV or BAG domain of BAG3 cause a dominant form of myopathy, characterized by protein aggregation in both skeletal and cardiac muscle tissues.
|
30559338 |
2018 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
In addition, based on its initial description BAG3 is an anti-apoptotic protein that plays a decisive role in other widespread diseases, including cancer and myopathies.
|
28680391 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
BAG3 (Bcl-2-Associated Athanogene-3) Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy.
|
28442482 |
2017 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutation and downregulation of the co-chaperone protein BCL-2-associated athanogene 3 (BAG3) are associated with cardiac myopathy and heart failure, and a BAG3 E455K mutation leads to dilated cardiomyopathy (DCM).
|
28737513 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
However, we now demonstrate that patients can develop a myopathy with histologic features of myofibrillar myopathy with aggregates and rimmed vacuoles, similar to the pathology in myopathies due to gene defects in other compounds of the CASA complex such as BAG3 and DNAJB6 after developing the early neurogenic effects.
|
26718575 |
2016 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy.
|
26545904 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the co-chaperone Bcl2-associated athanogene 3 (BAG3) can cause myofibrillar myopathy (MFM), a childhood-onset progressive muscle disease, characterized by the formation of protein aggregates and myofibrillar disintegration.
|
25273835 |
2014 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Bag3, another Z-disk-associated protein, has antiapoptotic properties, and its targeted deletion in mice causes fulminant myopathy with early lethality.
|
19085932 |
2009 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
BAG3-deficient animals developed a fulminant myopathy characterized by noninflammatory myofibrillar degeneration with apoptotic features.
|
16936253 |
2006 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|