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Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01036-y
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- Publication type:
- Article
Specific biomarkers for C9orf72 FTD/ ALS could expedite the journey towards effective therapies.
- Published in:
- EMBO Molecular Medicine, 2017, v. 9, n. 7, p. 853, doi. 10.15252/emmm.201707848
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- Publication type:
- Article
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2607, doi. 10.1093/brain/awae168
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- Publication type:
- Article
Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown.
- Published in:
- 2018
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- Publication type:
- journal article
The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
- Published in:
- 2017
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- Publication type:
- journal article
A Mutation in Af4 Is Predicted to Cause Cerebellar Ataxia and Cataracts in the Robotic Mouse.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 5, p. 1631, doi. 10.1523/JNEUROSCI.23-05-01631.2003
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- Publication type:
- Article
Haploinsufficiency of progranulin causes cell type specific impairments in PINK1/Parkin mitophagy.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.064195
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- Publication type:
- Article
Haploinsufficiency of progranulin causes impairments in PINK/PARKIN mitophagy: Molecular and cell biology/TDP‐43.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.042104
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- Publication type:
- Article
Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.58565
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- Publication type:
- Article
C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation.
- Published in:
- EMBO Journal, 2022, v. 41, n. 1, p. 1, doi. 10.15252/embj.2020105026
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- Publication type:
- Article
SCREENING FOR MODIFIERS OF C9ORF72 HEXANUCLEOTIDE REPEAT EXPANSION TOXICITY IN DROSOPHILA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P992, doi. 10.1016/j.jalz.2017.06.1361
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- Publication type:
- Article
SHIFT IN CEREBRAL PET GLUCOSE METABOLISM IN FRONTOTEMPORAL DEMENTIA LINKED TO CHROMOSOME 3 (FTD-3) FROM THE PRESYMPTOMATIC TO SYMTOMATIC STAGE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P1090, doi. 10.1016/j.jalz.2016.06.2276
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- Publication type:
- Article
Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0432-x
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- Publication type:
- Article
A novel synaptopathy‐defective synaptic vesicle protein trafficking in the mutant CHMP2B mouse model of frontotemporal dementia.
- Published in:
- Journal of Neurochemistry, 2022, v. 160, n. 3, p. 412, doi. 10.1111/jnc.15551
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- Publication type:
- Article
Progranulin and TMEM106B: when two become wan.
- Published in:
- EMBO Reports, 2020, v. 21, n. 10, p. 1, doi. 10.15252/embr.202051668
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- Publication type:
- Article
Presymptomatic Generalized Brain Atrophy in Frontotemporal Dementia Caused by CHMP2B Mutation.
- Published in:
- Dementia & Geriatric Cognitive Disorders, 2009, v. 27, n. 2, p. 182, doi. 10.1159/000200466
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- Publication type:
- Article
Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. 1, doi. 10.1186/s40478-019-0860-x
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- Publication type:
- Article
Heterogeneous nuclear ribonucleoproteins R and Q accumulate in pathological inclusions in FTLD-FUS.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0673-y
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- Publication type:
- Article
Transcriptome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 9, p. 1, doi. 10.26508/lsa.202201824
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- Publication type:
- Article
Toxicity of C9orf72-associated dipeptide repeat peptides is modified by commonly used protein tags.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 9, p. 1, doi. 10.26508/lsa.202201739
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- Publication type:
- Article
Repeat length of C9orf72-associated glycine–alanine polypeptides affects their toxicity.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01634-6
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- Publication type:
- Article
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration.
- Published in:
- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 6, p. 778, doi. 10.1111/nan.12144
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- Publication type:
- Article
Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.
- Published in:
- G3: Genes | Genomes | Genetics, 2016, v. 6, n. 5, p. 1427, doi. 10.1534/g3.116.027060
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- Publication type:
- Article
Quantitative analysis of cryptic splicing associated with TDP-43 depletion.
- Published in:
- BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0274-1
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- Publication type:
- Article
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 3, p. 819, doi. 10.1093/brain/aws006
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- Publication type:
- Article
Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2565, doi. 10.1093/brain/awr198
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- Publication type:
- Article
A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2548, doi. 10.1093/brain/awr160
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- Publication type:
- Article
Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 12, p. e158, doi. 10.1093/brain/awq186
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- Publication type:
- Article
A monocarboxylate transporter rescues frontotemporal dementia and Alzheimer's disease models.
- Published in:
- PLoS Genetics, 2023, v. 19, n. 9, p. 1, doi. 10.1371/journal.pgen.1010893
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- Publication type:
- Article
Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene.
- Published in:
- 2009
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- Publication type:
- Letter
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.
- Published in:
- Nature Communications, 2017, v. 8, n. 7, p. 16063, doi. 10.1038/ncomms16063
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- Publication type:
- Article
A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 8, p. 1494, doi. 10.1007/s00415-011-5966-4
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- Publication type:
- Article
Ageing as a risk factor for ALS/FTD.
- Published in:
- Human Molecular Genetics, 2017, v. 26, p. R105, doi. 10.1093/hmg/ddx247
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- Publication type:
- Article
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 5, p. 873, doi. 10.1093/hmg/ddx003
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- Publication type:
- Article
Six generations of CHMP2B‐mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
- Published in:
- Acta Neurologica Scandinavica, 2022, v. 145, n. 5, p. 529, doi. 10.1111/ane.13578
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- Publication type:
- Article
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.
- Published in:
- Journal of Gene Medicine, 2012, v. 14, n. 8, p. 521, doi. 10.1002/jgm.2649
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- Publication type:
- Article
Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 2, p. 407, doi. 10.1007/s00401-019-02104-x
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- Publication type:
- Article
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 3, p. 487, doi. 10.1007/s00401-018-1946-4
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- Publication type:
- Article
Sense and antisense RNA are not toxic in <italic>Drosophila</italic> models of <italic>C9orf72</italic>-associated ALS/FTD.
- Published in:
- Acta Neuropathologica, 2018, v. 135, n. 3, p. 445, doi. 10.1007/s00401-017-1798-3
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- Publication type:
- Article
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
- Published in:
- Acta Neuropathologica, 2018, v. 135, n. 3, p. 427, doi. 10.1007/s00401-017-1796-5
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- Publication type:
- Article
<i>C9orf72</i> frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 6, p. 845, doi. 10.1007/s00401-013-1200-z
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- Publication type:
- Article
G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome.
- Published in:
- FEBS Letters, 2015, v. 589, n. 14, p. 1653, doi. 10.1016/j.febslet.2015.05.003
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- Publication type:
- Article
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2228
- By:
- Publication type:
- Article
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 313, doi. 10.1093/hmg/ddm309
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- Publication type:
- Article
Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1865, doi. 10.1093/hmg/9.12.1865
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- Publication type:
- Article
Opinion: more mouse models and more translation needed for ALS.
- Published in:
- Molecular Neurodegeneration, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13024-023-00619-2
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- Publication type:
- Article
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids.
- Published in:
- Acta Neuropathologica Communications, 2024, p. 1, doi. 10.1186/s40478-024-01857-1
- By:
- Publication type:
- Article
Dysregulation in Subcellular Localization of Myelin Basic Protein mRNA Does Not Result in Altered Myelination in Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.705306
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- Publication type:
- Article
Regulation of Postsynaptic Function by the Dementia-Related ESCRT-III Subunit CHMP2B.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 7, p. 3155, doi. 10.1523/JNEUROSCI.0586-14.2015
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- Publication type:
- Article