Isabel Castanho
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View article: Systemic infections alter cortical transcriptionalsignatures in Alzheimer’s disease
Systemic infections alter cortical transcriptionalsignatures in Alzheimer’s disease Open
Alzheimer’s disease (AD) is characterized by neuroinflammation, yet the impact of concurrent systemic infections on the AD brain remains poorly understood. We investigated the molecular mechanisms underlying the central nervous system resp…
View article: Molecular hallmarks of excitatory and inhibitory neuronal resilience to Alzheimer’s disease
Molecular hallmarks of excitatory and inhibitory neuronal resilience to Alzheimer’s disease Open
View article: Methylomic signatures of tau and amyloid-beta in transgenic mouse models of Alzheimer’s disease neuropathology
Methylomic signatures of tau and amyloid-beta in transgenic mouse models of Alzheimer’s disease neuropathology Open
Alzheimer’s disease (AD) is characterized by progressive neurodegeneration driven by tau and amyloid-β (Aβ) pathology. Emerging evidence implicates a role for epigenetic modifications, particularly altered DNA methylation (DNAm), in AD pat…
View article: A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer’s disease
A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer’s disease Open
The identification of Alzheimer’s disease (AD)–associated genomic variants has provided powerful insight into disease etiology. Genome-wide association studies (GWASs) of AD have successfully identified previously unidentified targets but …
View article: <i>Setd1a</i> Loss-of-function Disrupts Epigenetic Regulation of Ribosomal Genes via Altered DNA Methylation
<i>Setd1a</i> Loss-of-function Disrupts Epigenetic Regulation of Ribosomal Genes via Altered DNA Methylation Open
Background and Hypothesis SETD1A, a histone methyltransferase, is implicated in schizophrenia through rare loss-of-function mutations. While SETD1A regulates gene expression via histone H3K4 methylation, its influence on broader epigenetic…
View article: Protein kinase C eta enhances Golgi-localized signaling and is associated with Alzheimer’s disease using a recessive mode of inheritance
Protein kinase C eta enhances Golgi-localized signaling and is associated with Alzheimer’s disease using a recessive mode of inheritance Open
The identification of Alzheimer’s disease (AD)-associated genomic variants has provided powerful insight into disease etiology. Genome-wide association studies (GWAS) for AD have successfully identified new targets but have almost exclusiv…
View article: Epigenetic insights into neuropsychiatric and cognitive symptoms in Parkinson’s disease: A DNA co-methylation network analysis
Epigenetic insights into neuropsychiatric and cognitive symptoms in Parkinson’s disease: A DNA co-methylation network analysis Open
View article: Molecular hallmarks of excitatory and inhibitory neuronal resilience and resistance to Alzheimer’s disease
Molecular hallmarks of excitatory and inhibitory neuronal resilience and resistance to Alzheimer’s disease Open
Background A significant proportion of individuals maintain healthy cognitive function despite having extensive Alzheimer’s disease (AD) pathology, known as cognitive resilience. Understanding the molecular mechanisms that protect these in…
View article: Deciphering the molecular and cellular underpinnings of cognitive resilience in Alzheimer’s disease
Deciphering the molecular and cellular underpinnings of cognitive resilience in Alzheimer’s disease Open
Background A significant proportion of individuals preserve cognitive function despite meeting neuropathological criteria for Alzheimer’s disease (AD) at autopsy, known as cognitive resilience. We aimed to define the molecular and cellular…
View article: Long‐read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology
Long‐read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology Open
Background Increasing evidence suggests that alternative splicing plays an important role in Alzheimer’s disease (AD), a devastating neurodegenerative disorder involving the intracellular aggregation of hyperphosphorylated tau. Method We u…
View article: CYP1B1-RMDN2 Alzheimer’s disease endophenotype locus identified for cerebral tau PET
CYP1B1-RMDN2 Alzheimer’s disease endophenotype locus identified for cerebral tau PET Open
Determining the genetic architecture of Alzheimer’s disease pathologies can enhance mechanistic understanding and inform precision medicine strategies. Here, we perform a genome-wide association study of cortical tau quantified by positron…
View article: Long-read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology
Long-read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology Open
Increasing evidence suggests that alternative splicing plays an important role in Alzheimer’s disease (AD) pathology. We used long-read sequencing in combination with a novel bioinformatics tool ( FICLE ) to profile transcript diversity in…
View article: Isoform characterisation & splicing signatures of AD‐risk genes using long‐read sequencing
Isoform characterisation & splicing signatures of AD‐risk genes using long‐read sequencing Open
Background An increasing number of studies implicate a role for alternative splicing in development and neuropathology of Alzheimer’s disease (AD). However, it has been historically challenging to characterise splicing events, due to the i…
View article: Long-read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology
Long-read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology Open
Increasing evidence suggests that alternative splicing plays an important role in Alzheimer’s disease (AD), a devastating neurodegenerative disorder involving the intracellular aggregation of hyperphosphorylated tau. We used long-read cDNA…
View article: Epigenetic insights into neuropsychiatric and cognitive symptoms in Parkinson's disease: A DNA co-methylation network analysis
Epigenetic insights into neuropsychiatric and cognitive symptoms in Parkinson's disease: A DNA co-methylation network analysis Open
View article: Review of: "Somatostatin and the pathophysiology of Alzheimer’s disease"
Review of: "Somatostatin and the pathophysiology of Alzheimer’s disease" Open
Potential competing interests: No potential competing interests to declare.This comprehensive and interesting review, compiling a wide range of literature, is a useful resource for anyone wanting to understand more about somatostatin and i…
View article: Epigenetic insights into neuropsychiatric and cognitive symptoms in Parkinson’s disease: A DNA co-methylation network analysis
Epigenetic insights into neuropsychiatric and cognitive symptoms in Parkinson’s disease: A DNA co-methylation network analysis Open
Parkinson’s disease is a highly heterogeneous disorder, encompassing a complex spectrum of clinical presentation including motor, sleep, cognitive and neuropsychiatric symptoms. We aimed to investigate genome-wide DNA methylation networks …
View article: Novel<i>CYP1B1-RMDN2</i>Alzheimer’s disease locus identified by genome-wide association analysis of cerebral tau deposition on PET
Novel<i>CYP1B1-RMDN2</i>Alzheimer’s disease locus identified by genome-wide association analysis of cerebral tau deposition on PET Open
Determining the genetic architecture of Alzheimer’s disease (AD) pathologies can enhance mechanistic understanding and inform precision medicine strategies. Here, we performed a genome-wide association study of cortical tau quantified by p…
View article: Fluorescence-activated nuclei sorting (FANS) of purified neural cell populations from mouse cortex for multi-omic profiling v2
Fluorescence-activated nuclei sorting (FANS) of purified neural cell populations from mouse cortex for multi-omic profiling v2 Open
Increased understanding of the functional complexity of the genome has led to growing recognition about the role of epigenetic/transcriptional variation in health and disease. Because epigenetic processes play a critical role in determinin…
View article: The Neuroepigenetic Landscape of Vertebrate and Invertebrate Models of Neurodegenerative Diseases
The Neuroepigenetic Landscape of Vertebrate and Invertebrate Models of Neurodegenerative Diseases Open
Vertebrate and invertebrate models of neurodegenerative diseases, such as Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis, have been paramount to our understanding of the pathophysiology of these conditions; how…
View article: Full-length transcript sequencing of human and mouse cerebral cortex identifies widespread isoform diversity and alternative splicing
Full-length transcript sequencing of human and mouse cerebral cortex identifies widespread isoform diversity and alternative splicing Open
View article: Characterizing the properties of bisulfite sequencing data: maximizing power and sensitivity to identify between-group differences in DNA methylation
Characterizing the properties of bisulfite sequencing data: maximizing power and sensitivity to identify between-group differences in DNA methylation Open
Background The combination of sodium bisulfite treatment with highly-parallel sequencing is a common method for quantifying DNA methylation across the genome. The power to detect between-group differences in DNA methylation using bisulfite…
View article: Characterizing the properties of bisulfite sequencing data: maximizing power and sensitivity to identify between-group differences in DNA methylation
Characterizing the properties of bisulfite sequencing data: maximizing power and sensitivity to identify between-group differences in DNA methylation Open
Background The combination of sodium bisulfite treatment with highly-parallel sequencing is a common method for quantifying DNA methylation across the genome. The power to detect between-group differences in DNA methylation using bisulfite…
View article: Additional file 2 of Characterizing the properties of bisulfite sequencing data: maximizing power and sensitivity to identify between-group differences in DNA methylation
Additional file 2 of Characterizing the properties of bisulfite sequencing data: maximizing power and sensitivity to identify between-group differences in DNA methylation Open
Additional file 2. RRBS information on total number of reads aligned, unaligned ambiguously aligned, and total number of reads, as well as the number of methylated and unmethylated CpGs, CpH, and CHH’s, and total number of cytosines.
View article: Genome‐wide DNA methylation signatures of tau and amyloid neuropathology
Genome‐wide DNA methylation signatures of tau and amyloid neuropathology Open
Background The onset and progression of Alzheimer’s disease (AD) is characterized by increasing intracellular aggregation of hyperphosphorylated tau protein and the accumulation of β‐amyloid (Aβ) in the neocortex. Despite recent success in…
View article: Global shifts in DNA methylation and DNA hydroxymethylation across multiple brain regions in transgenic models of tau and amyloid pathology
Global shifts in DNA methylation and DNA hydroxymethylation across multiple brain regions in transgenic models of tau and amyloid pathology Open
Background There is increasing evidence to support a role for altered DNA modifications in Alzheimer’s disease (AD). Global changes in both DNA methylation (5mC) and DNA hydroxymethylation (5hmC) have been robustly reported in cancer, but …
View article: Characterization of mRNA isoform diversity in a transgenic model of tau pathology using targeted long‐read sequencing
Characterization of mRNA isoform diversity in a transgenic model of tau pathology using targeted long‐read sequencing Open
Background An increasing number of studies implicate a role for alternative splicing in the development and neuropathology of Alzheimer’s disease (AD). However, it has been historically challenging to characterise splicing events, due to t…
View article: Full-length transcript sequencing of human and mouse identifies widespread isoform diversity and alternative splicing in the cerebral cortex
Full-length transcript sequencing of human and mouse identifies widespread isoform diversity and alternative splicing in the cerebral cortex Open
Alternative splicing is a post-transcriptional regulatory mechanism producing multiple distinct mRNA molecules from a single pre-mRNA. Alternative splicing has a prominent role in the central nervous system, impacting neurodevelopment and …
View article: Phospholipase D1 Ablation Disrupts Mouse Longitudinal Hippocampal Axis Organization and Functioning
Phospholipase D1 Ablation Disrupts Mouse Longitudinal Hippocampal Axis Organization and Functioning Open
Phosphatidic acid (PA) is a signaling lipid involved in the modulation of synaptic structure and functioning. Based on previous work showing a decreasing PA gradient along the longitudinal axis of the rodent hippocampus, we asked whether t…
View article: Transcriptional Signatures of Tau and Amyloid Neuropathology
Transcriptional Signatures of Tau and Amyloid Neuropathology Open
Alzheimer's disease (AD) is associated with the intracellular aggregation of hyperphosphorylated tau and the accumulation of β-amyloid in the neocortex. We use transgenic mice harboring human tau (rTg4510) and amyloid precursor protein (J2…