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Matrin 3

matrin 3, MATR3
This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts with an upstream locus have been described. Related pseuodgenes have been defined on chr1 and chrX.[provided by RefSeq, Mar 2011] (from NCBI)
Top mentioned proteins: Als, HAD, NP220, ACID, CAN
Papers using matrin 3 antibodies
Characterization of the HIV-1 RNA associated proteome identifies Matrin 3 as a nuclear cofactor of Rev function
Supplier
Jeang Kuan-Teh et al., In Retrovirology, 2010
... Full-length Matrin 3 clone was purchased from Open Biosystems and cloned into pCMV-HA vector (Clontech) by PCR ...
Papers on matrin 3
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.
New
Rouleau et al., Montréal, Canada. In Neurobiol Aging, Jan 2016
Recently, whole-exome sequencing analysis of familial ALS (FALS) patients allowed the identification of missense variations within the MATR3 gene.
MATR3 mutation analysis in a Chinese cohort with sporadic amyotrophic lateral sclerosis.
New
Fan et al., Beijing, China. In Neurobiol Aging, Jan 2016
UNASSIGNED: Several recent studies have reported that the MATR3 gene is associated with the risk of amyotrophic lateral sclerosis (ALS).
Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation.
New
Hanisch et al., Halle, Germany. In Muscle Nerve, Jun 2015
INTRODUCTION: Recently, mutations in the MATR3 gene were found to cause late-onset distal myopathy.
Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.
New
Lee et al., Taipei, Taiwan. In Neurobiol Aging, May 2015
Mutations in the MATR3 gene were just recently identified to cause familial amyotrophic lateral sclerosis, and their role in amyotrophic lateral sclerosis (ALS) in various populations remains unclear.
Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes.
New
Al-Chalabi et al., Cambridge, United States. In Neurobiol Aging, May 2015
Analyses stratified by disease severity identified expression changes in C9orf72 (p = 2.77 × 10(-3)), MATR3 (p = 3.46 × 10(-3)), and VEGFA (p = 8.21 × 10(-4)), all implicated in ALS through genetic studies, and changes in other genes in pathways involving RNA processing and immune response.
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
New
Maas et al., Los Angeles, United States. In Hum Mol Genet, May 2015
On the other hand, the 5q translocation breakpoint disrupts the 3' UTR of MATR3, which encodes the nuclear matrix protein Matrin 3, and mouse Matr3 is strongly expressed in neural crest, developing heart and great vessels, whereas Ahdc1 is not.
Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.
New
Blair et al., Sydney, Australia. In Neurobiol Aging, Mar 2015
Recently, mutations in the matrin 3 (MATR3) gene were described in both ALS and autosomal dominant distal myopathy with vocal cord and pharyngeal weakness.
Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.
Le Ber et al., Paris, France. In Neurobiol Aging, 2014
Recently, exome analysis identified mutations in matrin 3 (MATR3) gene in patients with familial ALS, suggesting a role for this gene in the pathogenesis of the disease.
Phenotype of matrin-3-related distal myopathy in 16 German patients.
Zierz et al., Halle, Germany. In Ann Neurol, 2014
OBJECTIVE: To characterize the phenotype of patients with distal myopathy with vocal cord and pharyngeal weakness due to the p.S85C mutation in the matrin-3 gene (MATR3, Mendelian Inheritance in Man 164015).
Epigenetic modifications of splicing factor genes in myelodysplastic syndromes and acute myeloid leukemia.
Rasko et al., Australia. In Cancer Sci, 2014
Here, we examined promoter DNA hypermethylation of nine splicing factors, SF3B1, SRSF2, U2AF1, ZRSR2, SF3A1, HNRNPR, MATR3, ZFR, and YBX3 in 10 leukemic cell lines and 94 MDS or AML patient samples from the Australasian Leukemia and Lymphoma Group Tissue Bank.
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
Traynor et al., Bethesda, United States. In Nat Neurosci, 2014
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
GeneRIF
Clarke et al., Sydney, Australia. In Neuromuscul Disord, 2011
This study identified no pathogenic mutations in BAG3, MATR3, PTRF or TCAP in Australian muscular dystrophy.
Laminopathies and lamin-associated signaling pathways.
Review
Lattanzi et al., Bologna, Italy. In J Cell Biochem, 2011
Lamin-binding proteins implicated in laminopathies include lamin B2, nuclear envelope proteins such as emerin, MAN1, LBR, and nesprins, the nuclear matrix protein matrin 3, the lamina-associated polypeptide, LAP2alpha and the transcriptional regulator FHL1.
Characterization of the HIV-1 RNA associated proteome identifies Matrin 3 as a nuclear cofactor of Rev function.
GeneRIF
Marcello et al., Trieste, Italy. In Retrovirology, 2010
MATR3 binds viral RNA and is required for the Rev/RRE mediated nuclear export of unspliced HIV-1 RNAs.
Matrin 3 is a co-factor for HIV-1 Rev in regulating post-transcriptional viral gene expression.
GeneRIF
Jeang et al., Bethesda, United States. In Retrovirology, 2010
Matrin 3 binds Rev RNA to stabilize HIV-1 transcripts leading to increased cytoplasmic expression.
Matrin 3 and HIV Rev regulation of mRNA.
GeneRIF
Dayton, Rockville, United States. In Retrovirology, 2010
Rev needs MATR3 to promote the cytoplasmic accumulation and translation of unspliced RRE-containing mRNA.
Matrin 3 binds and stabilizes mRNA.
GeneRIF
Shiloh et al., Tel Aviv-Yafo, Israel. In Plos One, 2010
Data suggest that the cellular level of MATR3, known to be highly regulated, modulates the stability of a group of gene transcripts.
Varicella-zoster virus open reading frame 66 protein kinase and its relationship to alphaherpesvirus US3 kinases.
Review
Kinchington et al., Pittsburgh, United States. In Curr Top Microbiol Immunol, 2009
However, ORF66 targets some cellular targets which are also targeted by US3 kinases of other herpesviruses, including the histone deacetylase-1 and 2 proteins, pathways that lead to changes in actin dynamics, and the targeting of substrates of protein kinase A, including the nuclear matrix protein matrin 3.
The fate of dsRNA in the nucleus: a p54(nrb)-containing complex mediates the nuclear retention of promiscuously A-to-I edited RNAs.
Impact
Carmichael et al., Farmington, United States. In Cell, 2001
This complex contains the inosine-specific RNA binding protein p54(nrb), the splicing factor PSF, and the inner nuclear matrix structural protein matrin 3. We provide evidence that one function of the complex identified here is to anchor hyperedited RNAs to the nuclear matrix, while allowing selectively edited mRNAs to be exported.
[Functional arrangement of genomic DNA and structure of nuclear matrix].
Review
Hibino, Toyama, Japan. In Yakugaku Zasshi, 2000
Since the nucleotide sequence of P130 cDNA cloned by us was closely similar to that of matrin 3 cDNA cloned, except for two incorrect nucleotides within the matrin 3 coding region, and since the functions of matrin 3 were unknown, P130, referred to as P130/Mat3, was functionally characterized.
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