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Synaptic dysfunction induced by glycine‐alanine dipeptides in C9orf72‐ALS/FTD is rescued by SV2 replenishment.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 5, p. 1, doi. 10.15252/emmm.201910722
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- Publication type:
- Article
Active poly‐GA vaccination prevents microglia activation and motor deficits in a C9orf72 mouse model.
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- EMBO Molecular Medicine, 2020, v. 12, n. 2, p. N.PAG, doi. 10.15252/emmm.201910919
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- Publication type:
- Article
A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS.
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- EMBO Molecular Medicine, 2018, v. 10, n. 6, p. 1, doi. 10.15252/emmm.201708558
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- Publication type:
- Article
Targeting RNA G‐quadruplexes as new treatment strategy for <italic>C9orf72 </italic>ALS/FTD.
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- EMBO Molecular Medicine, 2018, v. 10, n. 1, p. 4, doi. 10.15252/emmm.201708572
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- Publication type:
- Article
Poly- GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/ FTD.
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- EMBO Molecular Medicine, 2017, v. 9, n. 7, p. 859, doi. 10.15252/emmm.201607486
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- Publication type:
- Article
Antibodies inhibit transmission and aggregation of C9orf72 poly- GA dipeptide repeat proteins.
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- EMBO Molecular Medicine, 2017, v. 9, n. 5, p. 687, doi. 10.15252/emmm.201607054
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- Publication type:
- Article
The presenilin C-terminus is required for ER-retention, nicastrin-binding and?-secretase activity.
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- EMBO Journal, 2004, v. 23, n. 24, p. 4738, doi. 10.1038/sj.emboj.7600478
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- Publication type:
- Article
Loss of fused in sarcoma (FUS) promotes pathological Tau splicing.
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- EMBO Reports, 2012, v. 13, n. 8, p. 759, doi. 10.1038/embor.2012.90
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- Publication type:
- Article
Disease‐linked TDP‐43 hyperphosphorylation suppresses TDP‐43 condensation and aggregation.
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- EMBO Journal, 2022, v. 41, n. 8, p. 1, doi. 10.15252/embj.2021108443
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- Publication type:
- Article
Cell‐to‐cell transmission of C9orf72 poly‐(Gly‐Ala) triggers key features of ALS/FTD.
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- EMBO Journal, 2020, v. 39, n. 8, p. 1, doi. 10.15252/embj.2019102811
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- Article
C9ORF72 TRANSLATION AND DISEASE.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1444, doi. 10.1016/j.jalz.2017.07.475
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- Article
Presenilin-1 affects trafficking and processing of ΒAPP and is targeted in a complex with nicastrin to the plasma membrane.
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- Journal of Cell Biology, 2002, v. 158, n. 3, p. 551, doi. 10.1083/jcb.200201123
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- Publication type:
- Article
A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0166-y
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- Article
Author Correction: Gel-like inclusions of C-terminal fragments of TDP-43 sequester stalled proteasomes in neurons.
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- 2024
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- Publication type:
- Correction Notice
C9orf72 protein quality control by UBR5‐mediated heterotypic ubiquitin chains.
- Published in:
- EMBO Reports, 2023, v. 24, n. 8, p. 1, doi. 10.15252/embr.202255895
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- Article
Gel‐like inclusions of C‐terminal fragments of TDP‐43 sequester stalled proteasomes in neurons.
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- EMBO Reports, 2022, v. 23, n. 6, p. 1, doi. 10.15252/embr.202153890
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- Article
Loss of TMEM106B potentiates lysosomal and FTLD‐like pathology in progranulin‐deficient mice.
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- EMBO Reports, 2020, v. 21, n. 10, p. 1, doi. 10.15252/embr.202050241
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- Article
Reduced hn RNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition.
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- EMBO Reports, 2016, v. 17, n. 9, p. 1314, doi. 10.15252/embr.201541724
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- Publication type:
- Article
Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.
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- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0579-0
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- Publication type:
- Article
Distinct Roles of NR2A and NR2B Cytoplasmic Tails in Long-Term Potentiation.
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- Journal of Neuroscience, 2010, v. 30, n. 7, p. 2676, doi. 10.1523/JNEUROSCI.4022-09.2010
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- Article
Micro RNA-125b induces tau hyperphosphorylation and cognitive deficits in Alzheimer's disease.
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- EMBO Journal, 2014, v. 33, n. 15, p. 1667, doi. 10.15252/embj.201387576
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- Article
The ER under rapid fire.
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- EMBO Journal, 2014, v. 33, n. 11, p. 1195, doi. 10.1002/embj.201488692
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- Article
The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes.
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- EMBO Journal, 2014, v. 33, n. 5, p. 450, doi. 10.1002/embj.201385857
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- Publication type:
- Article
microRNA-34c is a novel target to treat dementias.
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- EMBO Journal, 2011, v. 30, n. 20, p. 4299, doi. 10.1038/emboj.2011.327
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- Publication type:
- Article
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.
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- EMBO Journal, 2010, v. 29, n. 16, p. 2841, doi. 10.1038/emboj.2010.143
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- Publication type:
- Article
Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants.
- Published in:
- Life Science Alliance, 2022, v. 5, n. 11, p. 1, doi. 10.26508/lsa.202101327
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- Publication type:
- Article
FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations.
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- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0381-1
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- Article
Reconstitution of ?-secretase activity.
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- Nature Cell Biology, 2003, v. 5, n. 5, p. 486, doi. 10.1038/ncb960
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- Article
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.
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- Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2018.00045
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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
Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.
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- Human Molecular Genetics, 2017, v. 26, n. 4, p. 790, doi. 10.1093/hmg/ddw432
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- Publication type:
- Article
Correction to: Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
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- 2024
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- Publication type:
- Correction Notice
Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS.
- Published in:
- Acta Neuropathologica, 2020, v. 140, n. 2, p. 121, doi. 10.1007/s00401-020-02176-0
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- Publication type:
- Article
Poly-glycine–alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3.
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- Acta Neuropathologica, 2020, v. 139, n. 1, p. 99, doi. 10.1007/s00401-019-02082-0
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- Article
RNA versus protein toxicity in <italic>C9orf72</italic> ALS/FTLD.
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- 2018
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- Publication type:
- Letter to the Editor
Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS- FUS.
- Published in:
- Acta Neuropathologica, 2016, v. 131, n. 4, p. 587, doi. 10.1007/s00401-016-1544-2
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- Publication type:
- Article
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
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- Acta Neuropathologica, 2015, v. 130, n. 6, p. 845, doi. 10.1007/s00401-015-1476-2
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- Publication type:
- Article
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.
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- Acta Neuropathologica, 2015, v. 130, n. 6, p. 863, doi. 10.1007/s00401-015-1480-6
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- Publication type:
- Article
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.
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- Acta Neuropathologica, 2015, v. 130, n. 4, p. 559, doi. 10.1007/s00401-015-1474-4
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- Publication type:
- Article
Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
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- Acta Neuropathologica, 2015, v. 130, n. 4, p. 537, doi. 10.1007/s00401-015-1450-z
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- Publication type:
- Article
Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
- Published in:
- 2015
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- Publication type:
- Erratum
C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration.
- Published in:
- Acta Neuropathologica, 2014, v. 128, n. 4, p. 485, doi. 10.1007/s00401-014-1329-4
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- Publication type:
- Article
Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability.
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- 2014
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- Publication type:
- Report
Dipeptide repeat protein pathology in <i>C9ORF72</i> mutation cases: clinico-pathological correlations.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 6, p. 859, doi. 10.1007/s00401-013-1181-y
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- Publication type:
- Article
Bidirectional transcripts of the expanded <i>C9orf72</i> hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 6, p. 881, doi. 10.1007/s00401-013-1189-3
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- Publication type:
- Article
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations.
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- Acta Neuropathologica, 2013, v. 125, n. 3, p. 413, doi. 10.1007/s00401-013-1088-7
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- Publication type:
- Article
miR-132, an experience-dependent microRNA, is essential for visual cortex plasticity.
- Published in:
- Nature Neuroscience, 2011, v. 14, n. 10, p. 1240, doi. 10.1038/nn.2909
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- Publication type:
- Article
Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration.
- Published in:
- Molecular Neurodegeneration, 2017, v. 12, p. 1, doi. 10.1186/s13024-016-0146-8
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- Publication type:
- Article
FUS-mediated alternative splicing in the nervous system: consequences for ALS and FTLD.
- Published in:
- Journal of Molecular Medicine, 2013, v. 91, n. 12, p. 1343, doi. 10.1007/s00109-013-1077-2
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- Publication type:
- Article
Peripheral expression of brain-penetrant progranulin rescues pathologies in mouse models of frontotemporal lobar degeneration.
- Published in:
- Science Translational Medicine, 2024, v. 16, n. 750, p. 1, doi. 10.1126/scitranslmed.adj7308
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- Publication type:
- Article