Found: 29
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Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-35908-3
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- Publication type:
- Article
Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 43, p. 15320, doi. 10.1523/JNEUROSCI.3266-11.2011
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- Publication type:
- Article
Acute injury in the peripheral nervous system triggers an alternative macrophage response.
- Published in:
- Journal of Neuroinflammation, 2012, v. 9, n. 1, p. 176, doi. 10.1186/1742-2094-9-176
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- Article
Mutant HSPB8 causes motor neuron-specific neurite degeneration.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 16, p. 3254, doi. 10.1093/hmg/ddq234
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- Publication type:
- Article
Regulation of human microglial gene expression and function via RNAase-H active antisense oligonucleotides in vivo in Alzheimer's disease.
- Published in:
- Molecular Neurodegeneration, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13024-024-00725-9
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- Publication type:
- Article
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2885, doi. 10.1093/brain/awac475
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- Article
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction.
- Published in:
- 2021
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- Publication type:
- journal article
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
- Published in:
- 2019
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- Publication type:
- journal article
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
- Published in:
- 2017
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- Publication type:
- journal article
Diffusion kurtosis imaging to detect amyloidosis in an APP/PS1 mouse model for Alzheimer's disease.
- Published in:
- Magnetic Resonance in Medicine, 2013, v. 69, n. 4, p. 1115, doi. 10.1002/mrm.24680
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- Publication type:
- Article
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
- Published in:
- Acta Neuropathologica, 2018, v. 135, n. 1, p. 131, doi. 10.1007/s00401-017-1756-0
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- Publication type:
- Article
Mitochondria-associated membranes as hubs for neurodegeneration.
- Published in:
- Acta Neuropathologica, 2016, v. 131, n. 4, p. 505, doi. 10.1007/s00401-015-1528-7
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- Publication type:
- Article
Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 1, p. 93, doi. 10.1007/s00401-013-1133-6
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- Publication type:
- Article
Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01121-w
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- Publication type:
- Article
Abscisic acid deficiency leads to rapid activation of tomato defence responses upon infection with Erwinia chrysanthemi.
- Published in:
- Molecular Plant Pathology, 2008, v. 9, n. 1, p. 11, doi. 10.1111/j.1364-3703.2007.00437.x
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- Publication type:
- Article
Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations.
- Published in:
- Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0024-9
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- Publication type:
- Article
Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01346-3
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- Publication type:
- Article
BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65664-z
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- Publication type:
- Article
Disruption of the SapM locus in Mycobacterium bovis BCG improves its protective efficacy as a vaccine against M. tuberculosis.
- Published in:
- EMBO Molecular Medicine, 2011, v. 3, n. 4, p. 222, doi. 10.1002/emmm.201000125
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- Publication type:
- Article
HSPB1 Facilitates the Formation of Non-Centrosomal Microtubules.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066541
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- Publication type:
- Article
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
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- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-016-0407-3
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- Publication type:
- Article
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12909-9
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- Publication type:
- Article
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
- Published in:
- 2015
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- Publication type:
- journal article
Caspase-14-Deficient Mice Are More Prone to the Development of Parakeratosis.
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- Journal of Investigative Dermatology, 2013, v. 133, n. 3, p. 742, doi. 10.1038/jid.2012.350
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- Publication type:
- Article
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2211, doi. 10.1002/humu.21481
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- Publication type:
- Article
Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 4, p. 615, doi. 10.1093/hmg/ddy352
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- Publication type:
- Article
Neutrophil extracellular trap cell death requires both autophagy and superoxide generation.
- Published in:
- Cell Research, 2011, v. 21, n. 2, p. 290, doi. 10.1038/cr.2010.150
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- Publication type:
- Article
Abscisic Acid Deficiency Causes Changes in Cuticle Permeability and Pectin Composition That Influence Tomato Resistance to Botrytis cinerea.
- Published in:
- Plant Physiology, 2010, v. 154, n. 2, p. 847, doi. 10.1104/pp.110.158972
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- Publication type:
- Article
A weakened interface in the P182L variant of HSP27 associated with severe Charcot‐Marie‐Tooth neuropathy causes aberrant binding to interacting proteins.
- Published in:
- EMBO Journal, 2021, v. 40, n. 8, p. 1, doi. 10.15252/embj.2019103811
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- Article