Sign Up to like & get
recommendations!
2
Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2206217120
Abstract: Significance Here, we define the molecular pathways responsible for regulating the abundance of Matrin 3 (MATR3), an RNA-binding protein with integral ties to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We show that the…
read more here.
Keywords:
activity regulates;
regulates matrin;
abundance;
matrin abundance ... See more keywords
Sign Up to like & get
recommendations!
0
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
Sign Up to like & get
recommendations!
2
Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200006
Abstract: Objectives The c.254C>G (p.S85C) MATR3 variant causes vocal cord and pharyngeal weakness with distal myopathy (VCPDM), which is characterized by progressive, asymmetric, predominantly distal muscle weakness, dysphonia, dysphagia, and respiratory impairment. Herein, we describe an…
read more here.
Keywords:
distal myopathy;
s85c matr3;
weakness;
matr3 ... See more keywords
Sign Up to like & get
recommendations!
2
Published in 2022 at "Biology"
DOI: 10.3390/biology11020298
Abstract: Simple Summary Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting the motor neurons in the brain and spinal cord. Mutations in the gene Matr3 have been linked to ALS, including the autosomal dominant missense…
read more here.
Keywords:
matr3;
motor neurons;
loss;
motor ... See more keywords
Sign Up to like & get
recommendations!
1
Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10092161
Abstract: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by prolonged fever, cytopenia, hepatosplenomegaly, and hemophagocytosis. This occurs as a result of activated macrophages and impaired function of natural killer cells and/or cytotoxic T lymphocytes.…
read more here.
Keywords:
matrin3 matr3;
hemophagocytosis;
expression associated;
matr3 expression ... See more keywords
Sign Up to like & get
recommendations!
3
Published in 2023 at "Biomedicines"
DOI: 10.3390/biomedicines11020326
Abstract: Matrin 3 (MATR3) is one of the most abundant inner nuclear matrix proteins involved in multiple nuclear processes. However, to date, the biological role and prognostic relevance of MATR3 in human cancers still need to…
read more here.
Keywords:
matr3;
cell renal;
cell;
survival ... See more keywords