|
Amyotrophic Lateral Sclerosis
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
We describe here a novel missense mutation in hnRNPA2B1 gene in a large pedigree affected with PDB with members who do not present other manifestations of multisystem proteinopathy, such as IBM, FTD, and ALS.
|
28389692 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
ALS-associated hnRNP A2/B1 D290V mutant patient fibroblasts and motor neurons differentiated from induced pluripotent stem cells (iPSC-MNs) demonstrate abnormal splicing changes, likely due to increased nuclear-insoluble hnRNP A2/B1.
|
27773581 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
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.
|
29203801 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
hnRNPA2, a component of RNA-processing membraneless organelles, forms inclusions when mutated in a syndrome characterized by the degeneration of neurons (bearing features of amyotrophic lateral sclerosis [ALS] and frontotemporal dementia), muscle, and bone.
|
29358076 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Mutations in hnRNPA1 and hnRNPA2B1 prove to be a rare cause of ALS, FTD, and IBM in the Netherlands.
|
24612671 |
2014 |
|
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
|
23455423 |
2013 |
|
Frontotemporal dementia
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
hnRNPA2, a component of RNA-processing membraneless organelles, forms inclusions when mutated in a syndrome characterized by the degeneration of neurons (bearing features of amyotrophic lateral sclerosis [ALS] and frontotemporal dementia), muscle, and bone.
|
29358076 |
2018 |
|
Osteitis Deformans
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We describe here a novel missense mutation in hnRNPA2B1 gene in a large pedigree affected with PDB with members who do not present other manifestations of multisystem proteinopathy, such as IBM, FTD, and ALS.
|
28389692 |
2017 |
|
Pick Disease of the Brain
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
hnRNPA2, a component of RNA-processing membraneless organelles, forms inclusions when mutated in a syndrome characterized by the degeneration of neurons (bearing features of amyotrophic lateral sclerosis [ALS] and frontotemporal dementia), muscle, and bone.
|
29358076 |
2018 |
|
Fabry Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
|
27595546 |
2016 |
|
Muscular Dystrophies, Limb-Girdle
|
0.010 |
GeneticVariation
|
group |
BEFREE |
These results indicate both genetic and physical interactions between disease-linked RBPs and DNAJB6/mrj, suggesting etiologic overlap between the pathogenesis of hIBM and LGMD initiated by mutations in hnRNPA2B1 and DNAJB6.
|
26744327 |
2016 |
|
NONAKA MYOPATHY
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These results indicate both genetic and physical interactions between disease-linked RBPs and DNAJB6/mrj, suggesting etiologic overlap between the pathogenesis of hIBM and LGMD initiated by mutations in hnRNPA2B1 and DNAJB6.
|
26744327 |
2016 |
|
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Amyotrophic Lateral Sclerosis
|
0.490 |
Biomarker
|
disease |
HPO |
|
|
|
|
Amyotrophic Lateral Sclerosis
|
0.490 |
Biomarker
|
disease |
BEFREE |
Pathological developments leading to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are associated with misbehavior of several key proteins, such as SOD1 (superoxide dismutase 1), TARDBP/TDP-43, FUS, C9orf72, and dipeptide repeat proteins generated as a result of the translation of the intronic hexanucleotide expansions in the C9orf72 gene, PFN1 (profilin 1), GLE1 (GLE1, RNA export mediator), PURA (purine rich element binding protein A), FLCN (folliculin), RBM45 (RNA binding motif protein 45), SS18L1/CREST, HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1), HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1), ATXN2 (ataxin 2), MAPT (microtubule associated protein tau), and TIA1 (TIA1 cytotoxic granule associated RNA binding protein).
|
28980860 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.490 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia.
|
29131108 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.490 |
Biomarker
|
disease |
BEFREE |
Indeed, numerous RBPs with PrLDs, including TDP-43 (transactivation response element DNA-binding protein 43), FUS (fused in sarcoma), TAF15 (TATA-binding protein-associated factor 15), EWSR1 (Ewing sarcoma breakpoint region 1), and heterogeneous nuclear ribonucleoproteins A1 and A2 (hnRNPA1 and hnRNPA2), have now been connected via pathology and genetics to the etiology of several neurodegenerative diseases, including amyotrophic lateral sclerosis, frontotemporal dementia, and multisystem proteinopathy.
|
28389532 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.490 |
Biomarker
|
disease |
BEFREE |
Mutations in several genes, including FUS, TDP43, Matrin 3, hnRNPA2 and other RNA-binding proteins, have been linked to ALS pathology.
|
26728149 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.490 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ALS-associated hnRNP A2/B1 D290V mutant patient fibroblasts and motor neurons differentiated from induced pluripotent stem cells (iPSC-MNs) demonstrate abnormal splicing changes, likely due to increased nuclear-insoluble hnRNP A2/B1.
|
27773581 |
2016 |
|
Adult T-Cell Lymphoma/Leukemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of adult T cell leukemia/lymphoma.
|
26437031 |
2015 |
|
Pancreatic carcinoma
|
0.240 |
Biomarker
|
disease |
BEFREE |
HNRNPA2B1 might be a target for treatment of pancreatic cancer.
|
24998203 |
2014 |
|
Pancreatic carcinoma
|
0.240 |
Biomarker
|
disease |
BEFREE |
Moreover, we found that HNRNPA2B1 likely regulates EMT progression in pancreatic carcinoma via the ERK/snail signalling pathway.
|
28077929 |
2017 |
|
Pancreatic carcinoma
|
0.240 |
Biomarker
|
disease |
BEFREE |
This study investigated the role of Fyn and its potential relationship with HnRNPA2B1 and Sam68 in the regulation of apoptosis in pancreatic cancer.Experimental design.
|
21642356 |
2011 |
|
Liver carcinoma
|
0.240 |
Biomarker
|
disease |
BEFREE |
Long noncoding RNA miR503HG, a prognostic indicator, inhibits tumor metastasis by regulating the HNRNPA2B1/NF-κB pathway in hepatocellular carcinoma.
|
29774077 |
2018 |
|
Liver carcinoma
|
0.240 |
Biomarker
|
disease |
RGD |
Using pharmacologic and siRNA approaches, we show that the autocrine or paracrine activation of the EGF receptor (EGFR)/mitogen-activated protein/extracellular signal-regulated kinase pathway increases the IR-A:IR-B ratio in HCC cell lines, but not in normal hepatocytes, by upregulating the expression of the splicing factors CUGBP1, hnRNPH, hnRNPA1, hnRNPA2B1, and SF2/ASF.
|
23633480 |
2013 |