Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
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Title
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Authors
Keywords
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Journal
JCI Insight
Volume 6, Issue 14, Pages -
Publisher
American Society for Clinical Investigation
Online
2021-07-22
DOI
10.1172/jci.insight.148363
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Note: Only part of the references are listed.- In vivo stress granule misprocessing evidenced in a FUS knock-in ALS mouse model
- (2020) Xue Zhang et al. BRAIN
- G3BP1 Is a Tunable Switch that Triggers Phase Separation to Assemble Stress Granules
- (2020) Peiguo Yang et al. CELL
- Liquid-liquid phase separation induces pathogenic tau conformations in vitro
- (2020) Nicholas M. Kanaan et al. Nature Communications
- Stress-induced mRNP granules: Form and function of processing bodies and stress granules
- (2019) Anna R. Guzikowski et al. Wiley Interdisciplinary Reviews-RNA
- Bridging biophysics and neurology: aberrant phase transitions in neurodegenerative disease
- (2019) Natalia B. Nedelsky et al. Nature Reviews Neurology
- Chronic optogenetic induction of stress granules is cytotoxic and reveals the evolution of ALS-FTD pathology
- (2019) Peipei Zhang et al. eLife
- Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- (2019) Laure Frésard et al. NATURE MEDICINE
- Structural basis for reversible amyloids of hnRNPA1 elucidates their role in stress granule assembly
- (2019) Xinrui Gui et al. Nature Communications
- Context-Dependent and Disease-Specific Diversity in Protein Interactions within Stress Granules
- (2018) Sebastian Markmiller et al. CELL
- Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains
- (2018) Lin Guo et al. CELL
- Tau protein liquid–liquid phase separation can initiate tau aggregation
- (2018) Susanne Wegmann et al. EMBO JOURNAL
- Systematic Characterization of Stress-Induced RNA Granulation
- (2018) Sim Namkoong et al. MOLECULAR CELL
- Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation
- (2018) Hiroya Naruse et al. NEUROBIOLOGY OF AGING
- The Stress Granule Transcriptome Reveals Principles of mRNA Accumulation in Stress Granules
- (2017) Anthony Khong et al. MOLECULAR CELL
- TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
- (2017) Ian R. Mackenzie et al. NEURON
- Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease
- (2016) Zachary M. March et al. BRAIN RESEARCH
- Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource
- (2016) Michael J. Keogh et al. GENOME RESEARCH
- The hnRNP family: insights into their role in health and disease
- (2016) Thomas Geuens et al. HUMAN GENETICS
- Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS
- (2016) Qing Liu et al. NEUROLOGY
- Distinct stages in stress granule assembly and disassembly
- (2016) Joshua R Wheeler et al. eLife
- Heterogeneous nuclear ribonucleoprotein A1 post-transcriptionally regulates Drp1 expression in neuroblastoma cells
- (2015) So Jung Park et al. Biochimica et Biophysica Acta-Gene Regulatory Mechanisms
- Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization
- (2015) Amandine Molliex et al. CELL
- A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation
- (2015) Avinash Patel et al. CELL
- Sporadic inclusion body myositis: clinical, pathological, and genetic analysis of eight Polish patients
- (2015) Biruta Kierdaszuk et al. FOLIA NEUROPATHOLOGICA
- ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1
- (2015) Kathleen M. Gilpin et al. HUMAN MOLECULAR GENETICS
- TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor
- (2015) Fatemeh Mohagheghi et al. HUMAN MOLECULAR GENETICS
- Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins
- (2015) Yuan Lin et al. MOLECULAR CELL
- A Function for the hnRNP A1/A2 Proteins in Transcription Elongation
- (2015) Bruno Lemieux et al. PLoS One
- A novel role for the proteasomal chaperone PSMD9 and hnRNPA1 in enhancing IκBα degradation and NF-κB activation - functional relevance of predicted PDZ domain-motif interaction
- (2014) Indrajit Sahu et al. FEBS Journal
- Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
- (2014) Janel O Johnson et al. NATURE NEUROSCIENCE
- No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy
- (2014) Meinie Seelen et al. NEUROBIOLOGY OF AGING
- Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis
- (2014) Bing-Wen Soong et al. NEUROBIOLOGY OF AGING
- Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders
- (2013) Mani Ramaswami et al. CELL
- Stress granules in neurodegeneration - lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma
- (2013) Eva Bentmann et al. FEBS Journal
- Stress granules as crucibles of ALS pathogenesis
- (2013) Yun R. Li et al. JOURNAL OF CELL BIOLOGY
- Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
- (2013) Hong Joo Kim et al. NATURE
- Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
- (2013) Daniela Calini et al. NEUROBIOLOGY OF AGING
- hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes
- (2013) Isabelle Le Ber et al. NEUROBIOLOGY OF AGING
- Motor neuron involvement in multisystem proteinopathy: Implications for ALS
- (2013) M. Benatar et al. NEUROLOGY
- Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
- (2013) Shuo-Chien Ling et al. NEURON
- Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1
- (2012) Peter Hackman et al. ANNALS OF NEUROLOGY
- Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
- (2012) Julien Couthouis et al. HUMAN MOLECULAR GENETICS
- Structural and energetic basis of ALS-causing mutations in the atypical proline–tyrosine nuclear localization signal of the Fused in Sarcoma protein (FUS)
- (2012) Zi Chao Zhang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
- (2011) Amr Al-Saif et al. ANNALS OF NEUROLOGY
- TERRA and hnRNPA1 orchestrate an RPA-to-POT1 switch on telomeric single-stranded DNA
- (2011) Rachel Litman Flynn et al. NATURE
- A yeast functional screen predicts new candidate ALS disease genes
- (2011) J. Couthouis et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS
- (2011) Zhihui Sun et al. PLOS BIOLOGY
- Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules
- (2010) Daryl A. Bosco et al. HUMAN MOLECULAR GENETICS
- Identifying the amylome, proteins capable of forming amyloid-like fibrils
- (2010) Lukasz Goldschmidt et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- TDP-43 Is Intrinsically Aggregation-prone, and Amyotrophic Lateral Sclerosis-linked Mutations Accelerate Aggregation and Increase Toxicity
- (2009) Brian S. Johnson et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Gatekeeper residues in the major curlin subunit modulate bacterial amyloid fiber biogenesis
- (2009) X. Wang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
- (2009) C. Vance et al. SCIENCE
- Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
- (2009) T. J. Kwiatkowski et al. SCIENCE
- hnRNP A1 regulates UV-induced NF-κB signalling through destabilization of cIAP1 mRNA
- (2008) T T Zhao et al. CELL DEATH AND DIFFERENTIATION
- Modular Organization and Combinatorial Energetics of Proline–Tyrosine Nuclear Localization Signals
- (2008) Katherine E Süel et al. PLOS BIOLOGY
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