about
Alzheimer-related decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss.Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transportNEK1 variants confer susceptibility to amyotrophic lateral sclerosisSchizophrenia is associated with dysregulation of a Cdk5 activator that regulates synaptic protein expression and cognition.Epigenetic and genetic variation at the IGF2/H19 imprinting control region on 11p15.5 is associated with cerebellum weightGenome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumptionCommon variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.Cross-region reduction in 5-hydroxymethylcytosine in Alzheimer's disease brain.Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: implications for human motor neuron disease.Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's diseaseEpigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brainClinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration.Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's diseaseGenetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophreniaLRRK2 exonic variants and risk of multiple system atrophy.Neuron-specific mitochondrial DNA deletion levels in sporadic Alzheimer's disease.Compromised paraspeckle formation as a pathogenic factor in FUSopathies.Neuron-specific alterations in signal transduction pathways associated with Alzheimer's disease.Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathiesDipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.Effects of cis-regulatory variation differ across regions of the adult human brain.Control tissue in brain banking: the importance of thorough neuropathological assessment.Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.Comparison of the neurokinin-1 antagonist GR205171, alone and in combination with the 5-HT3 antagonist ondansetron, hyoscine and placebo in the prevention of motion-induced nausea in man.Functional annotation of the human brain methylome identifies tissue-specific epigenetic variation across brain and bloodMethylation QTLs in the developing brain and their enrichment in schizophrenia risk loci.The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTDUpregulation of calpain activity precedes tau phosphorylation and loss of synaptic proteins in Alzheimer's disease brain.Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.Tissue-specific patterns of allelically-skewed DNA methylation.Prostate-derived sterile 20-like kinases (PSKs/TAOKs) phosphorylate tau protein and are activated in tangle-bearing neurons in Alzheimer disease.ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules
P50
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P50
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Claire Troakes
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Claire Troakes
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0000-0002-1790-7376