Articles
142 result(s) for 'mayo clinic' within Molecular Neurodegeneration
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Citation: Molecular Neurodegeneration 2023 18:28
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Using mass spectrometry to validate mouse models of tauopathy
Citation: Molecular Neurodegeneration 2023 18:22 -
Common mouse models of tauopathy reflect early but not late human disease
Mouse models that overexpress human mutant Tau (P301S and P301L) are commonly used in preclinical studies of Alzheimer’s Disease (AD) and while several drugs showed therapeutic effects in these mice, they were...
Citation: Molecular Neurodegeneration 2023 18:10 -
Trem2 H157Y increases soluble TREM2 production and reduces amyloid pathology
The rare p.H157Y variant of TREM2 (Triggering Receptor Expressed on Myeloid Cells 2) was found to increase Alzheimer’s disease (AD) risk. This mutation is located at the cleavage site of TREM2 extracellular domai...
Citation: Molecular Neurodegeneration 2023 18:8 -
Advances in sequencing technologies for amyotrophic lateral sclerosis research
Amyotrophic lateral sclerosis (ALS) is caused by upper and lower motor neuron loss and has a fairly rapid disease progression, leading to fatality in an average of 2-5 years after symptom onset. Numerous genes...
Citation: Molecular Neurodegeneration 2023 18:4 -
Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer’s disease related proteins
Alzheimer’s disease (AD) is neuropathologically characterized by amyloid-beta (Aβ) plaques and neurofibrillary tangles. The main protein components of these hallmarks include Aβ40, Aβ42, tau, phosphor-tau, and...
Citation: Molecular Neurodegeneration 2023 18:2 -
Global neuropathologic severity of Alzheimer’s disease and locus coeruleus vulnerability influences plasma phosphorylated tau levels
We analyzed 35 population-based Mayo Clinic Study of Aging participants with plasma p-...
Citation: Molecular Neurodegeneration 2022 17:85 -
Nuclear import receptors are recruited by FG-nucleoporins to rescue hallmarks of TDP-43 proteinopathy
Cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43 (TDP-43) is a hallmark of the amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) disease spectrum, causing both nuclea...
Citation: Molecular Neurodegeneration 2022 17:80 -
Opposing effects of apoE2 and apoE4 on microglial activation and lipid metabolism in response to demyelination
Abnormal lipid accumulation has been recognized as a key element of immune dysregulation in microglia whose dysfunction contributes to neurodegenerative diseases. Microglia play essential roles in the clearanc...
Citation: Molecular Neurodegeneration 2022 17:75 -
ApoE in Alzheimer’s disease: pathophysiology and therapeutic strategies
Alzheimer’s disease (AD) is the most common cause of dementia worldwide, and its prevalence is rapidly increasing due to extended lifespans. Among the increasing number of genetic risk factors identified, the ...
Citation: Molecular Neurodegeneration 2022 17:72 -
Common features of neurodegenerative disease: exploring the brain-eye connection and beyond (part 2): the 2021 pre-symposium of the 15th international conference on Alzheimer’s and Parkinson’s diseases
Citation: Molecular Neurodegeneration 2022 17:69 -
Common features of neurodegenerative disease: exploring the brain-eye connection and beyond (Part 1): the 2021 pre-symposium of the 15th international conference on Alzheimer’s and Parkinson’s diseases
Citation: Molecular Neurodegeneration 2022 17:68 -
LRP1 is a neuronal receptor for α-synuclein uptake and spread
The aggregation and spread of α-synuclein (α-Syn) protein and related neuronal toxicity are the key pathological features of Parkinson’s disease (PD) and Lewy body dementia (LBD). Studies have shown that patho...
Citation: Molecular Neurodegeneration 2022 17:57 -
Imaging tau pathology in Alzheimer’s disease with positron emission tomography: lessons learned from imaging-neuropathology validation studies
Citation: Molecular Neurodegeneration 2022 17:39 -
Culture shock: microglial heterogeneity, activation, and disrupted single-cell microglial networks in vitro
Microglia, the resident immune cells of the brain, play a critical role in numerous diseases, but are a minority cell type and difficult to genetically manipulate in vivo with viral vectors and other approache...
Citation: Molecular Neurodegeneration 2022 17:26 -
Solving neurodegeneration: common mechanisms and strategies for new treatments
Across neurodegenerative diseases, common mechanisms may reveal novel therapeutic targets based on neuronal protection, repair, or regeneration, independent of etiology or site of disease pathology. To address...
Citation: Molecular Neurodegeneration 2022 17:23 -
Melanocortin 1 receptor activation protects against alpha-synuclein pathologies in models of Parkinson’s disease
Epidemiological studies suggest a link between the melanoma-related pigmentation gene melanocortin 1 receptor (MC1R) and risk of Parkinson’s disease (PD). We previously showed that MC1R signaling can facilitate n...
Citation: Molecular Neurodegeneration 2022 17:16 -
TDP-43 Pathology in Alzheimer’s Disease
Transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and thus, the regulation of gene exp...
Citation: Molecular Neurodegeneration 2021 16:84 -
Neuropathology and molecular diagnosis of Synucleinopathies
Synucleinopathies are clinically and pathologically heterogeneous disorders characterized by pathologic aggregates of α-synuclein in neurons and glia, in the form of Lewy bodies, Lewy neurites, neuronal cytopl...
Citation: Molecular Neurodegeneration 2021 16:83 -
A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study
A detailed understanding of the pathological processes involved in genetic frontotemporal dementia is critical in order to provide the patients with an optimal future treatment. Protein levels in CSF have the ...
Citation: Molecular Neurodegeneration 2021 16:79 -
Small molecule inhibitors of α-synuclein oligomers identified by targeting early dopamine-mediated motor impairment in C. elegans
Parkinson’s disease is a disabling neurodegenerative movement disorder characterized by dopaminergic neuron loss induced by α-synuclein oligomers. There is an urgent need for disease-modifying therapies for Pa...
Citation: Molecular Neurodegeneration 2021 16:77 -
Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer’s disease brain
Mitochondrial dysfunction is a feature of neurodegenerative diseases, including Alzheimer’s disease (AD). Changes in the mitochondrial DNA copy number (mtDNAcn) and increased mitochondrial DNA mutation burden ...
Citation: Molecular Neurodegeneration 2021 16:75 -
Talking points for physicians, patients and caregivers considering Aduhelm® infusion and the accelerated pathway for its approval by the FDA
Citation: Molecular Neurodegeneration 2021 16:74 -
Measuring the cognitive costs of the COVID-19 pandemic
Citation: Molecular Neurodegeneration 2021 16:67 -
Cellular and pathological heterogeneity of primary tauopathies
Microtubule-associated protein tau is abnormally aggregated in neuronal and glial cells in a range of neurodegenerative diseases that are collectively referred to as tauopathies. Multiple studies have suggeste...
Citation: Molecular Neurodegeneration 2021 16:57 -
SETD7-mediated monomethylation is enriched on soluble Tau in Alzheimer’s disease
Human tauopathies including Alzheimer’s disease (AD) are characterized by alterations in the post-translational modification (PTM) pattern of Tau, which parallel the formation of insoluble Tau aggregates, neur...
Citation: Molecular Neurodegeneration 2021 16:46 -
Modulating innate immune activation states impacts the efficacy of specific Aβ immunotherapy
Passive immunotherapies targeting Aβ continue to be evaluated as Alzheimer’s disease (AD) therapeutics, but there remains debate over the mechanisms by which these immunotherapies work. Besides the amount of p...
Citation: Molecular Neurodegeneration 2021 16:32 -
Correction to: Plaque associated microglia hyper-secrete extracellular vesicles and accelerate tau propagation in a humanized APP mouse model
An amendment to this paper has been published and can be accessed via the original article.
Citation: Molecular Neurodegeneration 2021 16:24 -
Plaque associated microglia hyper-secrete extracellular vesicles and accelerate tau propagation in a humanized APP mouse model
Recent studies suggest that microglia contribute to tau pathology progression in Alzheimer’s disease. Amyloid plaque accumulation transforms microglia, the primary innate immune cells in the brain, into neurod...
Citation: Molecular Neurodegeneration 2021 16:18 -
Preclinical modeling of chronic inhibition of the Parkinson’s disease associated kinase LRRK2 reveals altered function of the endolysosomal system in vivo
The most common mutation in the Leucine-rich repeat kinase 2 gene (LRRK2), G2019S, causes familial Parkinson’s Disease (PD) and renders the encoded protein kinase hyperactive. While targeting LRRK2 activity is...
Citation: Molecular Neurodegeneration 2021 16:17 -
Clusterin secreted from astrocyte promotes excitatory synaptic transmission and ameliorates Alzheimer’s disease neuropathology
Genome-wide association studies have established clusterin (CLU) as a genetic modifier for late-onset Alzheimer’s disease (AD). Both protective and risk alleles have been identified which may be associated wit...
Citation: Molecular Neurodegeneration 2021 16:5 -
Astrocyte-derived clusterin suppresses amyloid formation in vivo
Accumulation of amyloid-β (Aβ) peptide in the brain is a pathological hallmark of Alzheimer’s disease (AD). The clusterin (CLU) gene confers a risk for AD and CLU is highly upregulated in AD patients, with the co...
Citation: Molecular Neurodegeneration 2020 15:71 -
A novel systems biology approach to evaluate mouse models of late-onset Alzheimer’s disease
Late-onset Alzheimer’s disease (LOAD) is the most common form of dementia worldwide. To date, animal models of Alzheimer’s have focused on rare familial mutations, due to a lack of frank neuropathology from mo...
Citation: Molecular Neurodegeneration 2020 15:67 -
APOE2: protective mechanism and therapeutic implications for Alzheimer’s disease
Investigations of apolipoprotein E (APOE) gene, the major genetic risk modifier for Alzheimer’s disease (AD), have yielded significant insights into the pathogenic mechanism. Among the three common coding variant...
Citation: Molecular Neurodegeneration 2020 15:63 -
Correction to: Deciphering cellular transcriptional alterations in Alzheimer’s disease brains
An amendment to this paper has been published and can be accessed via the original article.
Citation: Molecular Neurodegeneration 2020 15:54 -
Deciphering cellular transcriptional alterations in Alzheimer’s disease brains
Large-scale brain bulk-RNAseq studies identified molecular pathways implicated in Alzheimer’s disease (AD), however these findings can be confounded by cellular composition changes in bulk-tissue. To identify ...
Citation: Molecular Neurodegeneration 2020 15:38 -
Correction to: Divergence, Convergence, and Therapeutic Implications: A Cell Biology Perspective of C9ORF72-ALS/FTD
An amendment to this paper has been published and can be accessed via the original article.
Citation: Molecular Neurodegeneration 2020 15:37 -
Divergence, Convergence, and Therapeutic Implications: A Cell Biology Perspective of C9ORF72-ALS/FTD
Ever since a GGGGCC hexanucleotide repeat expansion mutation in C9ORF72 was identified as the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), three competing b...
Citation: Molecular Neurodegeneration 2020 15:34 -
Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency
Frontotemporal lobar degeneration (FTLD) is a devastating and progressive disorder, and a common cause of early onset dementia. Progranulin (PGRN) haploinsufficiency due to autosomal dominant mutations in the ...
Citation: Molecular Neurodegeneration 2020 15:21 -
Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD
The C9ORF72 hexanucleotide repeat expansion is the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two fatal age-related neurodegenerative diseases. Th...
Citation: Molecular Neurodegeneration 2020 15:13 -
Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers
All samples were obtained through the ALS Center at Mayo Clinic Florida. Our primary cohort included 75 unrelated...C9orf72 repeat, 33 patients who did not possess this expansion, and 20 control subjects without ...
Citation: Molecular Neurodegeneration 2020 15:7 -
Alpha-synuclein-induced mitochondrial dysfunction is mediated via a sirtuin 3-dependent pathway
Misfolding and aggregation of the presynaptic protein alpha-synuclein (αsyn) is a hallmark of Parkinson’s disease (PD) and related synucleinopathies. Although predominantly localized in the cytosol, a body of ...
Citation: Molecular Neurodegeneration 2020 15:5 -
Genetic perturbations of disease risk genes in mice capture transcriptomic signatures of late-onset Alzheimer’s disease
New genetic and genomic resources have identified multiple genetic risk factors for late-onset Alzheimer’s disease (LOAD) and characterized this common dementia at the molecular level. Experimental studies in ...
Citation: Molecular Neurodegeneration 2019 14:50 -
The 5th International Conference on Molecular Neurodegeneration: Overlapping Pathologies and Common Mechanisms
Citation: Molecular Neurodegeneration 2019 14(Suppl 1):30 -
The neuropathological diagnosis of Alzheimer’s disease
Alzheimer’s disease is a progressive neurodegenerative disease most often associated with memory deficits and cognitive decline, although less common clinical presentations are increasingly recognized. The car...
Citation: Molecular Neurodegeneration 2019 14:32 -
TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers
Low frequency coding variants in TREM2 are associated with Alzheimer disease (AD) risk and cerebrospinal fluid (CSF) TREM2 protein levels are different between AD cases and controls. Similarly, TREM2 risk variant...
Citation: Molecular Neurodegeneration 2019 14:18 -
Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy
A G4C2 hexanucleotide repeat expansion in the noncoding region of C9orf72 is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). Putative disease mechanisms underlyin...
Citation: Molecular Neurodegeneration 2019 14:9 -
Genome-wide RNAseq study of the molecular mechanisms underlying microglia activation in response to pathological tau perturbation in the rTg4510 tau transgenic animal model
Activation of microglia, the resident immune cells of the central nervous system, is a prominent pathological hallmark of Alzheimer’s disease (AD). However, the gene expression changes underlying microglia act...
Citation: Molecular Neurodegeneration 2018 13:65 -
ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans
Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer’s disease (AD).
Citation: Molecular Neurodegeneration 2018 13:53 -
Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease
Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G4C2) repeat that causes approximately 5–7% of all amyotrophic lateral sclerosis (ALS) a...
Citation: Molecular Neurodegeneration 2018 13:46
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- ISSN: 1750-1326 (electronic)