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Identification of ASCL1 as a determinant for human iPSC-derived dopaminergic neurons.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01366-4
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- Publication type:
- Article
Variants in ATP5F1B are associated with dominantly inherited dystonia.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2730, doi. 10.1093/brain/awad068
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- Publication type:
- Article
Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk.
- Published in:
- 2023
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- Publication type:
- journal article
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.
- Published in:
- 2018
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- Publication type:
- journal article
IRS2 increases mitochondrial dysfunction and oxidative stress in a mouse model of Huntington disease.
- Published in:
- 2011
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- Publication type:
- journal article
Molecular mechanisms of α-synuclein and GBA1 in Parkinson’s disease.
- Published in:
- Cell & Tissue Research, 2018, v. 373, n. 1, p. 51, doi. 10.1007/s00441-017-2704-y
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- Publication type:
- Article
Inhibition of PIP4Kg ameliorates the pathological effects of mutant huntingtin protein.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.29123.001
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- Publication type:
- Article
Dysregulation of mitochondria-lysosome contacts by GBA1 dysfunction in dopaminergic neuronal models of Parkinson's disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22113-3
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- Publication type:
- Article
Sirt1 mediates neuroprotection from mutant huntingtin by activation of the TORC1 and CREB transcriptional pathway.
- Published in:
- Nature Medicine, 2012, v. 18, n. 1, p. 159, doi. 10.1038/nm.2559
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- Publication type:
- Article
Huntington's disease: tagged for clearance.
- Published in:
- Nature Medicine, 2010, v. 16, n. 1, p. 32, doi. 10.1038/nm0110-32
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- Publication type:
- Article
LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson's disease patients.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-13413-w
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- Publication type:
- Article
Distinct Region-Specific α-Synuclein Oligomers in A53T Transgenic Mice: Implications for Neurodegeneration.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 9, p. 3409, doi. 10.1523/JNEUROSCI.4977-09.2010
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- Publication type:
- Article
Glucocerebrosidase Mutations.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 6, p. 686, doi. 10.1001/jamaneurol.2013.87
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- Publication type:
- Article
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.
- Published in:
- Cellular & Molecular Life Sciences, 2016, v. 73, n. 16, p. 3205, doi. 10.1007/s00018-016-2159-4
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- Publication type:
- Article
Human Neuron Cultures: Micropatterning Facilitates the Long-Term Growth and Analysis of iPSC-Derived Individual Human Neurons and Neuronal Networks (Adv. Healthcare Mater. 15/2016).
- Published in:
- Advanced Healthcare Materials, 2016, v. 5, n. 15, p. 1893, doi. 10.1002/adhm.201670079
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- Publication type:
- Article
Micropatterning Facilitates the Long-Term Growth and Analysis of iPSC-Derived Individual Human Neurons and Neuronal Networks.
- Published in:
- Advanced Healthcare Materials, 2016, v. 5, n. 15, p. 1894, doi. 10.1002/adhm.201500900
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- Publication type:
- Article
A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson's disease.
- Published in:
- Science Translational Medicine, 2019, v. 11, n. 514, p. 1, doi. 10.1126/scitranslmed.aau6870
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- Publication type:
- Article
Expanding the spectrum of KCNJ6‐related disorders: Milder phenotype with pathological startle responses.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 103, doi. 10.1111/cge.14226
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- Publication type:
- Article
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 4, p. 828, doi. 10.1002/ana.26019
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- Publication type:
- Article
Recessive mutations in VPS13D cause childhood onset movement disorders.
- Published in:
- 2018
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- Publication type:
- journal article
Challenges to neurology residency education in today's health care environment.
- Published in:
- 2016
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- Publication type:
- journal article
Lysosomal ceramides regulate cathepsin B-mediated processing of saposin C and glucocerebrosidase activity.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2424, doi. 10.1093/hmg/ddac047
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- Publication type:
- Article
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 1, p. 78, doi. 10.1093/hmg/ddaa273
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- Publication type:
- Article
Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 5, p. 716, doi. 10.1093/hmg/ddz229
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- Publication type:
- Article
Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1972, doi. 10.1093/hmg/ddy105
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- Publication type:
- Article
Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4861, doi. 10.1093/hmg/ddx364
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- Publication type:
- Article
The Parkinson's disease-linked protein TMEM230 is required for Rab8a-mediated secretory vesicle trafficking and retromer trafficking.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 4, p. 729, doi. 10.1093/hmg/ddw413
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- Publication type:
- Article
Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2791, doi. 10.1093/hmg/ddt572
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- Publication type:
- Article
Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3785, doi. 10.1093/hmg/dds206
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- Publication type:
- Article
Rapamycin Reverses Cellular Phenotypes and Enhances Mutant Protein Clearance in Hutchinson-Gilford Progeria Syndrome Cells.
- Published in:
- Science Translational Medicine, 2011, v. 3, n. 89, p. 1, doi. 10.1126/scitranslmed.3002346
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- Publication type:
- Article
Glucocerebrosidase dysfunction in neurodegenerative disease.
- Published in:
- Essays in Biochemistry, 2021, v. 65, n. 7, p. 873, doi. 10.1042/EBC20210018
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- Publication type:
- Article
Alterations in Blood Methylome as Potential Epigenetic Biomarker in Sporadic Parkinson's Disease.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 6, p. 1162, doi. 10.1002/ana.26923
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- Publication type:
- Article
Fostering Academia‐Industry Partnerships to Facilitate Therapeutic Discoveries in Neurology: The Role of ANA as a Catalyst.
- Published in:
- 2024
- By:
- Publication type:
- Proceeding
Diverse Functions of Parkin in Midbrain Dopaminergic Neurons.
- Published in:
- Movement Disorders, 2024, v. 39, n. 8, p. 1282, doi. 10.1002/mds.29890
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- Publication type:
- Article
De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures.
- Published in:
- Movement Disorders, 2024, v. 39, n. 7, p. 1231, doi. 10.1002/mds.29791
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- Publication type:
- Article
A GNAI1 Pathogenic Variant in a Case with GNAO1‐Isolated Dystonia: A Modifier of Disease Severity?
- Published in:
- Movement Disorders, 2024, v. 39, n. 5, p. 918, doi. 10.1002/mds.29765
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- Publication type:
- Article
Evaluation of Strategies for Measuring Lysosomal Glucocerebrosidase Activity.
- Published in:
- Movement Disorders, 2021, v. 36, n. 12, p. 2719, doi. 10.1002/mds.28815
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- Publication type:
- Article
Modeling Brain Pathology of Niemann‐Pick Disease Type C Using Patient‐Derived Neurons.
- Published in:
- Movement Disorders, 2021, v. 36, n. 4, p. 1022, doi. 10.1002/mds.28463
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- Publication type:
- Article
Neuronal vulnerability in Parkinson disease: Should the focus be on axons and synaptic terminals?
- Published in:
- 2019
- By:
- Publication type:
- journal article
Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-02044-8
- By:
- Publication type:
- Article
Huntingtin cleavage product A forms in neurons and is reduced by gamma-secretase inhibitors.
- Published in:
- Molecular Neurodegeneration, 2010, v. 5, p. 58, doi. 10.1186/1750-1326-5-58
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- Publication type:
- Article
Astrocytes Protect Human Dopaminergic Neurons from α-Synuclein Accumulation and Propagation.
- Published in:
- Journal of Neuroscience, 2020, v. 40, n. 45, p. 8618, doi. 10.1523/JNEUROSCI.0954-20.2020
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- Publication type:
- Article
Increased Lysosomal Exocytosis Induced by Lysosomal Ca<sup>2+</sup> Channel Agonists Protects Human Dopaminergic Neurons from α-Synuclein Toxicity.
- Published in:
- Journal of Neuroscience, 2019, v. 39, n. 29, p. 5760, doi. 10.1523/JNEUROSCI.3085-18.2019
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- Publication type:
- Article
Mutant Huntingtin Is Secreted via a Late Endosomal/Lysosomal Unconventional Secretory Pathway.
- Published in:
- Journal of Neuroscience, 2017, v. 37, n. 37, p. 9000, doi. 10.1523/JNEUROSCI.0118-17.2017
- By:
- Publication type:
- Article
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 ( PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
- Published in:
- Human Mutation, 2011, v. 32, n. 8, p. 956, doi. 10.1002/humu.21527
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- Publication type:
- Article
Dysregulation of gene expression in the R6/2 model of polyglutamine disease: parallel changes in muscle and brain.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 17, p. 1911, doi. 10.1093/hmg/11.17.1911
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- Publication type:
- Article
Shifting the trajectory of therapeutic development for neurological and psychiatric disorders.
- Published in:
- Science Translational Medicine, 2023, v. 15, n. 720, p. 1, doi. 10.1126/scitranslmed.adg4775
- By:
- Publication type:
- Article
Long-term clinical outcomes after fetal cell transplantation in parkinson disease: implications for the future of cell therapy.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Alzheimer gene APOE ε4 linked to brain development in infants.
- Published in:
- 2014
- By:
- Publication type:
- journal article