Anti-SRP antibody measurement should be considered in patients diagnosed with FSHD if they present with diagnostic hallmarks of anti-SRP myopathy listed above, to avoid oversight of this potentially treatable disorder.
Aberrant RNA-binding proteins form the core of the neurodegeneration cascade in spectrums of disease, such as amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD). Six ALS-related molecules, TDP-43, FUS, TAF15, EWSR1, heterogeneous nuclear (hn)RNPA1 and hnRNPA2 are RNA-binding proteins containing candidate mutations identified in ALS patients and those share several common features, including harboring an aggregation-prone prion-like domain (PrLD) containing a glycine/serine-tyrosine-glycine/serine (G/S-Y-G/S)-motif-enriched low-complexity sequence and rich in glutamine and/or asparagine. Additinally, these six molecules are components of RNA granules involved in RNA quality control and become mislocated from the nucleus to form cytoplasmic inclusion bodies (IBs) in the ALS/FTD-affected brain. To reveal the essential mechanisms involved in ALS/FTD-related cytotoxicity associated with RNA-binding proteins containing PrLDs, we designed artificial RNA-binding proteins harboring G/S-Y-G/S-motif repeats with and without enriched glutamine residues and nuclear-import/export-signal sequences and examined their cytotoxicity in vitro. These proteins recapitulated features of ALS-linked molecules, including insoluble aggregation, formation of cytoplasmic IBs and components of RNA granules, and cytotoxicity instigation. These findings indicated that these artificial RNA-binding proteins mimicked features of ALS-linked molecules and allowed the study of mechanisms associated with gain of toxic functions related to ALS/FTD pathogenesis.
a b s t r a c tActivation of bovine pancreatic trypsinogen (BPTG) by trypsin (BPT) was found to be inhibited by D GalN/GalNAc at pH 5.5, the pH of secretory granules in the pancreas. Binding studies with biotinylated sugar-polymers indicated that BPTG and BPT bind to a-GalNAc, a-Man, and a-Gal better at pH 5.5 than at pH 7.5. Ultraviolet-difference spectra indicated that BPTG binding to a-GalNAc differs substantially from BPTG binding to other sugars. The N-a-benzoyl-D,L-arginine-p-nitroanilide hydrochloride-hydrolyzing activity of BPT was only slightly affected by these sugars. The results indicate that the binding of GalNAc -containing glycoconjugates protects BPTG from autoactivation, and this may be a self-defense mechanism against intrapancreatic activation.
Purpose] Sonography was used to observe the dynamics of the lateral abdominal region muscles during walking. [Subjects] The lateral abdominal region muscles of the 30 male healthy volunteers who participated in this study.[Methods] The linear probe (12 MHz) of the sonograph was positioned over the lateral abdominal region muscle so that the rectus abdominis at the umbilical level, the muscle bellies of the external and internal oblique muscles, and the transversus abdominis could be seen. Walking was recorded in the sagittal plane using a digital video camera which was synchronized with the sonograph. The thickness and deviation of the anterior border of the four lateral abdominal region muscles during walking were calculated.[Results] All of the muscles moved ventrally from mid stance to terminal stance, and they moved dorsally during the swing phase. The thickness ratio of the transversus abdominis was significantly greater than that of the external oblique muscle. [Conclusion] It is possible to conduct stabilization training for the trunk during walking, since the lateral abdominal muscles show small thickness changes and deviations, the internal oblique muscle has higher activity, and the muscle contract-relax of the transversus abdominis is clearly evident.
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