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Revisiting Glutamate Excitotoxicity in Amyotrophic Lateral Sclerosis and Age-Related Neurodegeneration.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5587, doi. 10.3390/ijms25115587
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- Publication type:
- Article
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01665-z
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- Publication type:
- Article
MAP4K3 inhibits Sirtuin-1 to repress the LKB1-AMPK pathway to promote amino acid-dependent activation of the mTORC1 complex.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 8, p. 1, doi. 10.26508/lsa.202201525
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- Publication type:
- Article
X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01582-1
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- Publication type:
- Article
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
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- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01277-5
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- Publication type:
- Article
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1745
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- Article
4E-BP1 Protects Neurons from Misfolded Protein Stress and Parkinson's Disease Toxicity by Inducing the Mitochondrial Unfolded Protein Response.
- Published in:
- Journal of Neuroscience, 2020, v. 40, n. 45, p. 8734, doi. 10.1523/JNEUROSCI.0940-20.2020
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- Publication type:
- Article
Autophagy gene haploinsufficiency drives chromosome instability, increases migration, and promotes early ovarian tumors.
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- PLoS Genetics, 2020, v. 16, n. 1, p. 1, doi. 10.1371/journal.pgen.1008558
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- Publication type:
- Article
Differential effects of various genetic mouse models of the mechanistic target of rapamycin complex I inhibition on heart failure.
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- GeroScience, 2019, v. 41, n. 6, p. 847, doi. 10.1007/s11357-019-00119-6
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- Publication type:
- Article
Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40118-3
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- Publication type:
- Article
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0677-7
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- Publication type:
- Article
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7.
- Published in:
- Science Translational Medicine, 2018, v. 10, n. 465, p. 1, doi. 10.1126/scitranslmed.aap8677
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- Publication type:
- Article
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
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- Acta Neuropathologica, 2018, v. 136, n. 3, p. 425, doi. 10.1007/s00401-018-1852-9
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- Publication type:
- Article
Therapy development in Huntington disease: From current strategies to emerging opportunities.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 842, doi. 10.1002/ajmg.a.38494
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- Publication type:
- Article
MAP4K3 mediates amino acid-dependent regulation of autophagy via phosphorylation of TFEB.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03340-7
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- Publication type:
- Article
PPARδ activation by bexarotene promotes neuroprotection by restoring bioenergetic and quality control homeostasis.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 419, p. 1, doi. 10.1126/scitranslmed.aal2332
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- Publication type:
- Article
The replicative lifespan-extending deletion of SGF73 results in altered ribosomal gene expression in yeast.
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- Aging Cell, 2017, v. 16, n. 4, p. 785, doi. 10.1111/acel.12611
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- Publication type:
- Article
Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy.
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- Science Translational Medicine, 2016, v. 8, n. 370, p. 1, doi. 10.1126/scitranslmed.aaf9526
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- Publication type:
- Article
Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.08493
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- Publication type:
- Article
Muscle-specific 4E-BP1 signaling activation improves metabolic parameters during aging and obesity.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 2952, doi. 10.1172/JCI77361
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- Publication type:
- Article
Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 3908, doi. 10.1093/hmg/ddv121
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- Publication type:
- Article
Disease-modifying effect of adiponectin in models of alpha-synucleinopathies in vitro and in vivo.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P762, doi. 10.1016/j.jalz.2015.06.1699
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- Publication type:
- Article
Mutual exacerbation of peroxisome proliferator-activated receptor γ coactivator 1α deregulation and α-synuclein oligomerization.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 1, p. 15, doi. 10.1002/ana.24294
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- Publication type:
- Article
Mutual exacerbation of peroxisome proliferator-activated receptor γ coactivator 1α deregulation and α-synuclein oligomerization.
- Published in:
- 2015
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- Publication type:
- journal article
Ataxin-3, DNA Damage Repair, and SCA3 Cerebellar Degeneration: On the Path to Parsimony?
- Published in:
- 2015
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- Publication type:
- Opinion
Identification of the SCA21 disease gene: remaining challenges and promising opportunities.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2626, doi. 10.1093/brain/awu217
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- Publication type:
- Article
Nonallele Specific Silencing of Ataxin-7 Improves Disease Phenotypes in a Mouse Model of SCA7.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 9, p. 1635, doi. 10.1038/mt.2014.108
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- Publication type:
- Article
Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 9, p. 1180, doi. 10.1038/nn.3787
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- Publication type:
- Article
Something wicked this way comes: huntingtin.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 8, p. 1014, doi. 10.1038/nn.3770
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- Publication type:
- Article
Disease modifying effect of adiponectin in model of α-synucleinopathies.
- Published in:
- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 7, p. 479, doi. 10.1002/acn3.77
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- Publication type:
- Article
Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. 1894, doi. 10.1093/brain/awu114
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- Publication type:
- Article
Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1606, doi. 10.1093/hmg/ddt551
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- Publication type:
- Article
Protein Interaction Analysis of Senataxin and the ALS4 L389S Mutant Yields Insights into Senataxin Post-Translational Modification and Uncovers Mutant-Specific Binding with a Brain Cytoplasmic RNA-Encoded Peptide.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078837
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- Publication type:
- Article
Dual effects of β-synuclein on the pathogenesis of Parkinson disease.
- Published in:
- Annals of Neurology, 2013, v. 74, n. 2, p. 306, doi. 10.1002/ana.23936
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- Publication type:
- Article
Dual effects of β-synuclein on the pathogenesis of Parkinson disease.
- Published in:
- 2013
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- Publication type:
- letter
Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 926, doi. 10.1093/brain/aws343
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- Publication type:
- Article
Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 5, p. 890, doi. 10.1093/hmg/dds495
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- Publication type:
- Article
PGC-1α Rescues Huntington's Disease Proteotoxicity by Preventing Oxidative Stress and Promoting TFEB Function.
- Published in:
- Science Translational Medicine, 2012, v. 4, n. 142, p. 1, doi. 10.1126/scitranslmed.3003799
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- Publication type:
- Article
Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 5, p. 1099, doi. 10.1093/hmg/ddr539
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- Publication type:
- Article
Distinct mechanisms of axonal globule formation in mice expressing human wild type α-synuclein or dementia with Lewy bodies-linked P123H β-synuclein.
- Published in:
- Molecular Brain, 2012, v. 5, n. 1, p. 34, doi. 10.1186/1756-6606-5-34
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- Publication type:
- Article
Finding a sirtuin truth in Huntington's disease.
- Published in:
- Nature Medicine, 2012, v. 18, n. 1, p. 24, doi. 10.1038/nm.2624
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- Publication type:
- Article
Spinocerebellar Ataxia Type 7 Cerebellar Disease Requires the Coordinated Action of Mutant Ataxin-7 in Neurons and Glia, and Displays Non-Cell-Autonomous Bergmann Glia Degeneration.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 45, p. 16269, doi. 10.1523/JNEUROSCI.4000-11.2011
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- Publication type:
- Article
Absence of disturbed axonal transport in spinal and bulbar muscular atrophy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1776, doi. 10.1093/hmg/ddr061
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- Publication type:
- Article
Déjà vu with a twist: transglutaminases in bioenergetics and transcriptional dysfunction in Huntington's disease.
- Published in:
- EMBO Molecular Medicine, 2010, v. 2, n. 9, p. 335, doi. 10.1002/emmm.201000092
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- Publication type:
- Article
Repeat expansion disease: progress and puzzles in disease pathogenesis.
- Published in:
- 2010
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- Publication type:
- journal article
Posttranslational Modification of Ataxin-7 at Lysine 257 Prevents Autophagy-Mediated Turnover of an N-Terminal Caspase-7 Cleavage Fragment.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 48, p. 15134, doi. 10.1523/JNEUROSCI.4720-09.2009
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- Publication type:
- Article
Memantine strikes the perfect balance.
- Published in:
- Nature Medicine, 2009, v. 15, n. 12, p. 1355, doi. 10.1038/nm1209-1355
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- Publication type:
- Article
Getting a handle on Huntington's disease: silencing neurodegeneration.
- Published in:
- Nature Medicine, 2009, v. 15, n. 3, p. 252, doi. 10.1038/nm0309-252
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- Publication type:
- Article
Polyglutamine-Expanded Androgen Receptor Truncation Fragments Activate a Bax-Dependent Apoptotic Cascade Mediated by DP5/Hrk.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 7, p. 1987, doi. 10.1523/JNEUROSCI.4072-08.2009
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- Publication type:
- Article
CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 11, p. 1, doi. 10.1371/journal.pgen.1000257
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- Publication type:
- Article