Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
about
Matrin 3 binds and stabilizes mRNAA complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Recent advances in amyotrophic lateral sclerosisEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseMutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisMATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosusImpairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation.Obstetric risk in patients with myopathy due to MATR3 mutations.Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathyNeuroproteomics: an insight into ALS.Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathySubcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy.Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutationMutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype.A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.Characterization of the HIV-1 RNA associated proteome identifies Matrin 3 as a nuclear cofactor of Rev function.Nuclear matrix protein Matrin3 regulates alternative splicing and forms overlapping regulatory networks with PTB.New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.ALS: Recent Developments from Genetics Studies.Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA-transcriptome homeostasis: a genomics perspective.Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity.Identification of novel nesprin-1 binding partners and cytoplasmic matrin-3 in processing bodiesDisruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations.The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS.Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration.ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export.Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.Nuclear poly(A) binding protein 1 (PABPN1) and Matrin3 interact in muscle cells and regulate RNA processing.Matrin3 binds directly to intronic pyrimidine-rich sequences and controls alternative splicing.ALS-Associated Endoplasmic Reticulum Proteins in Denervated Skeletal Muscle: Implications for Motor Neuron Disease Pathology.Heterogeneity of Matrin 3 in the developing and aging murine central nervous system.Phenotype of matrin-3-related distal myopathy in 16 German patients.Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.
P2860
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P2860
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
name
Autosomal-dominant distal myop ...... clear matrix protein, matrin 3
@ast
Autosomal-dominant distal myop ...... clear matrix protein, matrin 3
@en
type
label
Autosomal-dominant distal myop ...... clear matrix protein, matrin 3
@ast
Autosomal-dominant distal myop ...... clear matrix protein, matrin 3
@en
prefLabel
Autosomal-dominant distal myop ...... clear matrix protein, matrin 3
@ast
Autosomal-dominant distal myop ...... clear matrix protein, matrin 3
@en
P2093
P2860
P50
P1476
Autosomal-dominant distal myop ...... clear matrix protein, matrin 3
@en
P2093
Andoni Urtizberea
Andreas Roos
Carsten Bergmann
Charles E Jackson
Eric Seboun
Howard Feit
Ivailo Tournev
Jeff Tramonte
Joachim Weis
Kristy Crooks
P2860
P304
P356
10.1016/J.AJHG.2009.03.006
P407
P50
P577
2009-04-02T00:00:00Z