A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations
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چکیده
منابع مشابه
A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations
Missense mutations in the four and a half LIM domain 1 (FHL1) gene were found to cause X-linked inherited myopathies of both skeletal and heart muscle. However, the mechanisms by which FHL1 mutations impact on FHL1 function and lead to alteration of muscle structure and function have not been deciphered yet. We generated here by Morpholino-modified antisense oligonucleotide-mediated gene knockd...
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FHL1 adds some muscle
can bind to either ankyrin in vitro, what makes the channels preferentially bind to ankyrin G in vivo? To answer this question, Bréchet et al. homed in on the precise residues in sodium channels that are required for the interaction with ankyrin G. They pinpointed a sequence of residues that looked like a target for phosphorylation by CK2, and sure enough, it was. CK2 phosphorylated the sodium ...
متن کاملLoss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies, including reducing body myopathy and Emery-Dreifuss muscular dystrophy. However, it remains to be clarified whether mutations in FHL1 cause skeletal ...
متن کاملIdentification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy
Regulators of skeletal muscle mass are of interest, given the morbidity and mortality of muscle atrophy and myopathy. Four-and-a-half LIM protein 1 (FHL1) is mutated in several human myopathies, including reducing-body myopathy (RBM). The normal function of FHL1 in muscle and how it causes myopathy remains unknown. We find that FHL1 transgenic expression in mouse skeletal muscle promotes hypert...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2018
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2018.03.001