The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy
Sign Up to like & getrecommendations! Published in 2018 at "Experimental Neurology"
DOI: 10.1016/j.expneurol.2018.05.012
Abstract: ABSTRACT Matrin‐3‐related distal myopathy is characterized mainly by progressive distal weakness of the lower extremities. The mutation p.S85C in matrin‐3 (MATR3) has been identified as disease‐causing alteration, whereas the specific molecular mechanisms leading to the… read more here.
Keywords: granule; stress granule; granule formation; stress ... See more keywords
RNA-recognition motif in Matrin-3 mediates neurodegeneration through interaction with hnRNPM
Sign Up to like & getrecommendations! Published in 2020 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-020-01021-5
Abstract: Background Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative disease characterized by progressive loss of upper and lower motor neurons. While pathogenic mutations in the DNA/RNA-binding protein Matrin-3 (MATR3) are linked to ALS and… read more here.
Keywords: matr3; hnrnpm; rna recognition; matrin ... See more keywords