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Myosin as a potential redox-sensor: an in vitro study.
- Published in:
- Journal of Muscle Research & Cell Motility, 2008, v. 29, n. 2-5, p. 119
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- Publication type:
- Article
Neuroblastoma-secreted exosomes carrying miR‐375 promote osteogenic differentiation of bone-marrow mesenchymal stromal cells.
- Published in:
- Journal of Extracellular Vesicles, 2020, v. 9, n. 1, p. 1, doi. 10.1080/20013078.2020.1774144
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- Publication type:
- Article
Neuroblastoma‐secreted exosomes carrying miR‐375 promote osteogenic differentiation of bone‐marrow mesenchymal stromal cells.
- Published in:
- Journal of Extracellular Vesicles, 2020, v. 9, n. 1, p. 1, doi. 10.1080/20013078.2020.1774144
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- Publication type:
- Article
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34354-x
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- Publication type:
- Article
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
- Published in:
- 2021
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- Publication type:
- journal article
Preparation and In Vitro Evaluation of RITUXfab-Decorated Lipoplexes to Improve Delivery of siRNA Targeting C1858T PTPN22 Variant in B Lymphocytes.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 408, doi. 10.3390/ijms23010408
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- Publication type:
- Article
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7402, doi. 10.3390/ijms21197402
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- Publication type:
- Article
Integration of Multiple Platforms for the Analysis of Multifluorescent Marking Technology Applied to Pediatric GBM and DIPG.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 18, p. 6763, doi. 10.3390/ijms21186763
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- Publication type:
- Article
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1385, doi. 10.3390/ijms21041385
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- Publication type:
- Article
Liraglutide Treatment Ameliorates Neurotoxicity Induced by Stable Silencing of Pin1.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5064, doi. 10.3390/ijms20205064
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- Publication type:
- Article
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons.
- Published in:
- International Journal of Molecular Sciences, 2013, v. 14, n. 4, p. 7853, doi. 10.3390/ijms14047853
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- Publication type:
- Article
Improvement of Lipoplexes With a Sialic Acid Mimetic to Target the C1858T PTPN22 Variant for Immunotherapy in Endocrine Autoimmunity.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.838331
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- Publication type:
- Article
Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions.
- Published in:
- Cytoskeleton, 2010, v. 67, n. 2, p. 81, doi. 10.1002/cm.20425
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- Publication type:
- Article
TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
- Published in:
- EMBO Journal, 2021, v. 40, n. 10, p. 1, doi. 10.15252/embj.2019103563
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- Publication type:
- Article
Caspase-dependent apoptosis in Ribloflavin transporter deficiency iPSCs and derived motor neurons.
- Published in:
- Cell Death Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41420-024-01812-y
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- Publication type:
- Article
Dysregulated miR-155 and miR-125b Are Related to Impaired B-cell Responses in Down Syndrome.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.02683
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- Publication type:
- Article
Association between Serum Atypical Fibroblast Growth Factors 21 and 19 and Pediatric Nonalcoholic Fatty Liver Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067160
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- Publication type:
- Article
Focal Adhesion Kinase (FAK) Mediates the Induction of Pro-Oncogenic and Fibrogenic Phenotypes in Hepatitis C Virus (HCV)-Infected Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0044147
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- Publication type:
- Article
Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.
- Published in:
- Frontiers in Cellular Neuroscience, 2023, p. 1, doi. 10.3389/fncel.2023.1162363
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- Publication type:
- Article
Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.
- Published in:
- 2011
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- Publication type:
- journal article
Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 13, p. 2754, doi. 10.3390/jcm10132754
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- Publication type:
- Article
Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.
- Published in:
- Stem Cells Translational Medicine, 2016, v. 5, n. 7, p. 860, doi. 10.5966/sctm.2015-0303
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- Publication type:
- Article
Nuclear Lamins and Emerin Are Differentially Expressed in Osteosarcoma Cells and Scale with Tumor Aggressiveness.
- Published in:
- Cancers, 2020, v. 12, n. 2, p. 443, doi. 10.3390/cancers12020443
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- Publication type:
- Article
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1033, doi. 10.1038/ejhg.2015.45
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- Publication type:
- Article
PDTM-09. DIFFUSE INTRINSIC PONTINE GLIOMA AND PEDIATRIC GLIOBLASTOMA DERIVED-EXOSOMES HAVE SPECIFIC ONCOGENIC SIGNATURES.
- Published in:
- Neuro-Oncology, 2018, v. 20, p. vi205, doi. 10.1093/neuonc/noy148.851
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- Publication type:
- Article
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
- Published in:
- 2013
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- Publication type:
- Journal Article
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 872, doi. 10.1093/brain/awt012
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- Publication type:
- Article
Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome.
- Published in:
- Acta Neuropathologica, 1998, v. 96, n. 6, p. 651, doi. 10.1007/s004010050947
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- Publication type:
- Article
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 3, p. 400
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- Publication type:
- Article
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 5, p. 870, doi. 10.1007/s00415-014-7287-x
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- Publication type:
- Article
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1892, doi. 10.1093/hmg/ddy096
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- Publication type:
- Article
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 14, p. 2781, doi. 10.1093/hmg/ddx173
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- Publication type:
- Article
Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4288, doi. 10.1093/hmg/ddw260
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- Publication type:
- Article
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1543, doi. 10.1093/hmg/ddw032
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- Publication type:
- Article
Lamin A and the LINC complex act as potential tumor suppressors in Ewing Sarcoma.
- Published in:
- Cell Death & Disease, 2022, v. 13, n. 4, p. 1, doi. 10.1038/s41419-022-04729-5
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- Publication type:
- Article
Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0154805
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- Publication type:
- Article
Osteosarcoma‐derived extracellular vesicles induce a tumor‐like phenotype in normal recipient cells.
- Published in:
- Journal of Cellular Physiology, 2018, v. 233, n. 8, p. 6158, doi. 10.1002/jcp.26464
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- Publication type:
- Article
Src nuclear localization and its prognostic relevance in human osteosarcoma.
- Published in:
- Journal of Cellular Physiology, 2018, v. 233, n. 2, p. 1658, doi. 10.1002/jcp.26079
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- Publication type:
- Article
Distribution of cystinosin-LKG in human tissues.
- Published in:
- Histochemistry & Cell Biology, 2012, v. 138, n. 2, p. 351, doi. 10.1007/s00418-012-0958-8
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- Publication type:
- Article
Nuclear shape instability evoked by lamin A deregulation promotes metastases in Ewing sarcoma.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 132
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- Publication type:
- Article
Low levels of lamin A and mislocalization of LINC complex proteins are linked to metastatic potential in Ewing sarcoma.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 205
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- Publication type:
- Article
Chronic exposure to Interleukin-6 amplifies the response to Toll-like receptor ligands: implication on the pathogenesis of macrophage activation syndrome.
- Published in:
- 2011
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- Publication type:
- Abstract
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.
- Published in:
- Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1170061
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- Publication type:
- Article
Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1046, doi. 10.1002/humu.23767
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- Publication type:
- Article
MET Inhibition Sensitizes Rhabdomyosarcoma Cells to NOTCH Signaling Suppression.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.835642
- By:
- Publication type:
- Article
The Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 10994, doi. 10.3390/ijms252010994
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- Publication type:
- Article
Protein glutathionylation increases in the liver of patients with non-alcoholic fatty liver disease.
- Published in:
- Journal of Gastroenterology & Hepatology, 2008, v. 23, n. 8pt2, p. e457, doi. 10.1111/j.1440-1746.2007.05070.x
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- Publication type:
- Article
Use of short interfering RNA delivered by cationic liposomes to enable efficient down-regulation of PTPN22 gene in human T lymphocytes.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175784
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- Publication type:
- Article
Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.
- Published in:
- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1440555
- By:
- Publication type:
- Article
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-59
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- Publication type:
- Article