Nature Communications, 2022 The genome-wide high-resolution chromatin contact of the human retina identifies genetic control of cell-type specific gene expression pattern, missing heritability in retinopathies, and candidate genes/variants for diseases including AMD and glaucoma.
Claire Marchal +6 more
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LRRK2 phosphorylates pre-synaptic N-ethylmaleimide sensitive fusion (NSF) protein enhancing its ATPase activity and SNARE complex disassembling rate [PDF]
, 2016 Background Lrrk2, a gene linked to Parkinson\u2019s disease, encodes a large scaffolding protein with kinase and GTPase activities implicated in vesicle and cytoskeletal-related processes.
Arrigoni, Giorgio +15 more
core +5 more sources
Active immunization against alpha-synuclein ameliorates the degenerative pathology and prevents demyelination in a model of multiple system atrophy. [PDF]
, 2015 BackgroundMultiple system atrophy (MSA) is a neurodegenerative disease characterized by parkinsonism, ataxia and dysautonomia. Histopathologically, the hallmark of MSA is the abnormal accumulation of alpha-synuclein (α-syn) within oligodendroglial cells,
Adame, Anthony +12 more
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Developmental expression of 4-repeat-Tau induces neuronal aneuploidy in Drosophila tauopathy models [PDF]
, 2017 Tau-mediated neurodegeneration in Alzheimer's disease and tauopathies is generally assumed to start in a normally developed brain. However, several lines of evidence suggest that impaired Tau isoform expression during development could affect mitosis and
Amouyel, Philippe +17 more
core +1 more source
Potential of activated microglia as a source of dysregulated extracellular microRNAs contributing to neurodegeneration in amyotrophic lateral sclerosis [PDF]
, 2020 Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron degeneration in adults, and several mechanisms underlying the disease pathology have been proposed.
Christoforidou, Eleni +2 more
core +1 more source
Molecular mechanisms of the non-coenzyme action of thiamin in brain. Biochemical, structural and pathway analysis [PDF]
, 2015 Thiamin (vitamin B1) is a pharmacological agent boosting central metabolism through the action of the coenzyme thiamin diphosphate (ThDP). However, positive effects, including improved cognition, of high thiamin doses in neurodegeneration may be ...
Andrey, Vovk +9 more
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Brain Sciences, 2023 Observational studies have shown abnormal changes in trimethylamine N-oxide (TMAO) levels in the peripheral circulatory system of Parkinson’s disease (PD) patients.
Wei Quan +7 more
doaj +1 more source
Neurodegeneration: Potential Causes, Prevention, and Future Treatment Options [PDF]
, 2011 Here I advance a hypothesis that neurodegeneration is a natural process associated with aging due to the loss of genetic redundancy following a mathematical model R(t) = R0(1-αe(βC+γI+δEt)t), where the calorie intake (C) and ...
Zhongtao Zhang
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Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. [PDF]
, 2016 Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterised by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated ...
Adibhatla +148 more
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Acta Neuropathologica Communications, 2022 Genetic and neuropathological evidence strongly implicates aberrant forms of α-synuclein in neurodegeneration. Antibodies specific for α-synuclein phosphorylated at serine 129 (pS129) are selective for the pathological protein aggregates that are ...
Rose B. Creed +4 more
doaj +1 more source