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Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.
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- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00370
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- Article
Structural and functional analysis of RNA and TAP binding to SF2/ASF.
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- EMBO Reports, 2007, v. 8, n. 8, p. 756, doi. 10.1038/sj.embor.7401031
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- Article
The structure and selectivity of the SR protein SRSF2 RRM domain with RNA.
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- Nucleic Acids Research, 2012, v. 40, n. 7, p. 3232, doi. 10.1093/nar/gkr1164
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- Article
Arginine methylation of REF/ALY promotes efficient handover of mRNA to TAP/NXF1.
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- Nucleic Acids Research, 2010, v. 38, n. 10, p. 3351, doi. 10.1093/nar/gkq033
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- Article
The master energy homeostasis regulator PGC-1α exhibits an mRNA nuclear export function.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41304-8
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- Article
Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation.
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- Frontiers in Cellular Neuroscience, 2022, v. 16, p. 01, doi. 10.3389/fncel.2022.1061559
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- Article
Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features.
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- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0629-7
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In C andida albicans hyphae, Sec2p is physically associated with SEC2 mRNA on secretory vesicles.
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- Molecular Microbiology, 2014, v. 94, n. 4, p. 828, doi. 10.1111/mmi.12799
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- Article
A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.
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- Frontiers in Aging Neuroscience, 2023, p. 1, doi. 10.3389/fnagi.2023.1151848
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The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy.
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- EMBO Journal, 2016, v. 35, n. 15, p. 1656, doi. 10.15252/embj.201694401
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- Article
Chtop is a component of the dynamic TREX mRNA export complex.
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- EMBO Journal, 2013, v. 32, n. 3, p. 473, doi. 10.1038/emboj.2012.342
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- Article
Molecular basis of RNA recognition and TAP binding by the SR proteins SRp20 and 9G8.
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- EMBO Journal, 2006, v. 25, n. 21, p. 5126, doi. 10.1038/sj.emboj.7601385
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- Article
C9ORF72-derived poly-GA DPRs undergo endocytic uptake in iAstrocytes and spread to motor neurons.
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- Life Science Alliance, 2022, v. 5, n. 9, p. 1, doi. 10.26508/lsa.202101276
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- Article
SMN-deficient cells exhibit increased ribosomal DNA damage.
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- Life Science Alliance, 2022, v. 5, n. 8, p. 1, doi. 10.26508/lsa.202101145
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- Article
Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.
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- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 2, p. 109, doi. 10.1111/nan.12187
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- Article
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. 2040, doi. 10.1093/brain/awu120
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- Article
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.
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- Nature Communications, 2017, v. 8, n. 7, p. 16063, doi. 10.1038/ncomms16063
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Erratum: TREX exposes the RNA-binding domain of Nxf1 to enable mRNA export.
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- Nature Communications, 2013, v. 4, n. 10, p. 2377, doi. 10.1038/ncomms3377
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- Article
Burkholderia Lethal Factor 1, a Novel Anti-Cancer Toxin, Demonstrates Selective Cytotoxicity in MYCN-Amplified Neuroblastoma Cells.
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- Toxins, 2018, v. 10, n. 7, p. 261, doi. 10.3390/toxins10070261
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Proteomic and cellular localisation studies suggest non‐tight junction cytoplasmic and nuclear roles for occludin in astrocytes.
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- European Journal of Neuroscience, 2018, v. 47, n. 12, p. 1444, doi. 10.1111/ejn.13933
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Atypical TDP‐43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
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- Brain Pathology, 2023, v. 33, n. 1, p. 1, doi. 10.1111/bpa.13104
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- Article
Competitive and Cooperative Interactions Mediate RNA Transfer from Herpesvirus Saimiri ORF57 to the Mammalian Export Adaptor ALYREF.
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- PLoS Pathogens, 2014, v. 10, n. 2, p. 1, doi. 10.1371/journal.ppat.1003907
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An Interaction between KSHV ORF57 and UIF Provides mRNA-Adaptor Redundancy in Herpesvirus Intronless mRNA Export.
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- PLoS Pathogens, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.ppat.1002138
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Structural Basis for the Recognition of Cellular mRNA Export Factor REF by Herpes Viral Proteins HSV-1 ICP27 and HVS ORF57.
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- PLoS Pathogens, 2011, v. 7, n. 1, p. 1, doi. 10.1371/journal.ppat.1001244
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- Article
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
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- Human Molecular Genetics, 2017, v. 26, n. 6, p. 1133, doi. 10.1093/hmg/ddx022
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The Use of Plant-Derived Ribosome Inactivating Proteins in Immunotoxin Development: Past, Present and Future Generations.
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- Toxins, 2017, v. 9, n. 11, p. 344, doi. 10.3390/toxins9110344
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- Article
Mechanisms of repeat-associated non-AUG translation in neurological microsatellite expansion disorders.
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- Biochemical Society Transactions, 2021, v. 49, n. 2, p. 775, doi. 10.1042/BST20200690
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BLF1, the first Burkholderia pseudomallei toxin, connects inhibition of host protein synthesis with melioidosis.
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- Biochemical Society Transactions, 2012, v. 40, n. 4, p. 842, doi. 10.1042/BST20120057
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- Article
RNA Helicases in Microsatellite Repeat Expansion Disorders and Neurodegeneration.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.886563
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- Article
Drosha regulates neurogenesis by controlling Neurogenin 2 expression independent of microRNAs.
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- Nature Neuroscience, 2012, v. 15, n. 7, p. 962, doi. 10.1038/nn.3139
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- Article
Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease.
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- Aging Cell, 2021, v. 20, n. 1, p. 1, doi. 10.1111/acel.13281
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- Article
Proteinopathies as Hallmarks of Impaired Gene Expression, Proteostasis and Mitochondrial Function in Amyotrophic Lateral Sclerosis.
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- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.783624
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- Article
SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export: genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis.
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- Molecular Neurodegeneration, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13024-021-00475-y
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