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Published in 2018 at "Advanced materials"
DOI: 10.1002/adma.201703458
Abstract: Transition-metal dyshomeostasis is recognized as a critical pathogenic factor at the onset and progression of neurodegenerative disorder (ND). Excess transition-metal ions such as Cu2+ can catalyze the generation of cytotoxic reactive oxygen species and thereafter…
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Keywords:
nanosheets neuroprotective;
phosphorus nanosheets;
neurodegenerative disorder;
black phosphorus ... See more keywords
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Published in 2021 at "Journal of biosciences"
DOI: 10.1007/s12038-021-00217-8
Abstract: Pseudoexfoliation (PEX) is a systemic age-related progressive disorder with ocular manifestations. The earlier stage of the disease, pseudoexfoliation syndrome (PEXS) involves deposition of white fibrillar aggregates on anterior and posterior eye tissues. It is also…
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Keywords:
pex;
disorder;
neurodegenerative disorder;
pseudoexfoliation glaucoma ... See more keywords
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Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.163
Abstract: Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs…
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Keywords:
nars2 mutations;
infantile onset;
neurodegenerative disorder;
pars2 nars2 ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232113537
Abstract: Krabbe disease (KD) is a rare autosomal recessive disorder caused by mutations in the galactocerebrosidase gene (GALC). Defective GALC causes aberrant metabolism of galactolipids present almost exclusively in myelin, with consequent demyelinization and neurodegeneration of…
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Keywords:
disease;
neurodegenerative disorder;
krabbe disease;
disorder risk ... See more keywords