Brain transcriptome analysis reveals subtle effects on mitochondrial function and iron homeostasis of mutations in the SORL1 gene implicated in early onset familial Alzheimer’s disease

Depletion of the AD Risk Gene SORL1 Selectively Impairs Neuronal Endosomal Traffic Independent of Amyloidogenic APP Processing

(2020) Allison Knupp et al.   Cell Reports

A cellular complex of BACE1 and γ-secretase sequentially generates Aβ from its full-length precursor

(2019) Lei Liu et al.   JOURNAL OF CELL BIOLOGY

The harmonic mean p-value for combining dependent tests

(2019) Daniel J. Wilson   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

(2019) Brian W. Kunkle et al.   NATURE GENETICS

Glial activation and inflammation along the Alzheimer’s disease continuum

(2019) Kaja Nordengen et al.   Journal of Neuroinflammation

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

(2019) Dominique Campion et al.   ACTA NEUROPATHOLOGICA

Lysosomal dysfunction in Down syndrome is APP-dependent and mediated by APP-βCTF (C99)

(2019) Jiang Ying et al.   JOURNAL OF NEUROSCIENCE

Brain transcriptome analysis of a familial Alzheimer’s disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production

(2019) Morgan Newman et al.   Molecular Brain

ngsReports: a Bioconductor package for managing FastQC reports and other NGS related log files

(2019) Christopher M Ward et al.   BIOINFORMATICS

Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo

(2019) King Faisal Yambire et al.   eLife

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient

(2018) Kilan Le Guennec et al.   JOURNAL OF ALZHEIMERS DISEASE

The zebrafish orthologue of familial Alzheimer’s disease gene PRESENILIN 2 is required for normal adult melanotic skin pigmentation

(2018) Haowei Jiang et al.   PLoS One

Dysregulation of Neuronal Iron Homeostasis as an Alternative Unifying Effect of Mutations Causing Familial Alzheimer’s Disease

(2018) Amanda L. Lumsden et al.   Frontiers in Neuroscience

In vivo molecular imaging of neuroinflammation in Alzheimer's disease

(2018) Aisling Chaney et al.   JOURNAL OF NEUROCHEMISTRY

Mitochondrial genes are altered in blood early in Alzheimer's disease

(2017) Katie Lunnon et al.   NEUROBIOLOGY OF AGING

Pathview Web: user friendly pathway visualization and data integration

(2017) Weijun Luo et al.   NUCLEIC ACIDS RESEARCH

Biometal Dyshomeostasis and Toxic Metal Accumulations in the Development of Alzheimer’s Disease

(2017) Yong Li et al.   Frontiers in Molecular Neuroscience

The Endosomal–Lysosomal Pathway Is Dysregulated by APOE4 Expression in Vivo

(2017) Tal Nuriel et al.   Frontiers in Neuroscience

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

(2017) Håkan Thonberg et al.   Acta Neuropathologica Communications

Identification of a conserved and acute neurodegeneration-specific microglial transcriptome in the zebrafish

(2016) Nynke Oosterhof et al.   GLIA

Evidence For and Against a Pathogenic Role of Reduced γ-Secretase Activity in Familial Alzheimer’s Disease

(2016) Tanya Jayne et al.   JOURNAL OF ALZHEIMERS DISEASE

Near-optimal probabilistic RNA-seq quantification

(2016) Nicolas L Bray et al.   NATURE BIOTECHNOLOGY

Early role of vascular dysregulation on late-onset Alzheimer’s disease based on multifactorial data-driven analysis

(2016) Y. Iturria-Medina et al.   Nature Communications

Coding mutations inSORL1and Alzheimer disease

(2015) Badri N. Vardarajan et al.   ANNALS OF NEUROLOGY

Cpf1 Is a Single RNA-Guided Endonuclease of a Class 2 CRISPR-Cas System

(2015) Bernd Zetsche et al.   CELL

Elucidating Molecular Phenotypes Caused by the SORL1 Alzheimer’s Disease Genetic Risk Factor Using Human Induced Pluripotent Stem Cells

(2015) Jessica E. Young et al.   Cell Stem Cell

Oxidative stress and lipid peroxidation are upstream of amyloid pathology

(2015) Muriel Arimon et al.   NEUROBIOLOGY OF DISEASE

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

The Molecular Signatures Database Hallmark Gene Set Collection

(2015) Arthur Liberzon et al.   Cell Systems

SorLA Complement-type Repeat Domains Protect the Amyloid Precursor Protein against Processing

(2014) Arnela Mehmedbasic et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Normalization of RNA-seq data using factor analysis of control genes or samples

(2014) Davide Risso et al.   NATURE BIOTECHNOLOGY

Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis

(2014) D. C. Ryman et al.   NEUROLOGY

MAM (mitochondria-associated membranes) in mammalian cells: Lipids and beyond

(2013) Jean E. Vance   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease

(2013) Morgan Newman et al.   HUMAN MOLECULAR GENETICS

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

(2013) Akinori Miyashita et al.   PLoS One

Locus-specific mutation databases for neurodegenerative brain diseases

(2012) Marc Cruts et al.   HUMAN MUTATION

Mitochondria-associated ER membranes in Alzheimer disease

(2012) Eric A. Schon et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

(2012) C Pottier et al.   MOLECULAR PSYCHIATRY

Camera: a competitive gene set test accounting for inter-gene correlation

(2012) Di Wu et al.   NUCLEIC ACIDS RESEARCH

Linking lipids to Alzheimer's disease: cholesterol and beyond

(2011) Gilbert Di Paolo et al.   NATURE REVIEWS NEUROSCIENCE

Lipids in Alzheimer's disease: A century-old story

(2010) Paul Foley   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

ROAST: rotation gene set tests for complex microarray experiments

(2010) Di Wu et al.   BIOINFORMATICS

Alternative splicing in teleost fish genomes: same-species and cross-species analysis and comparisons

(2010) Jianguo Lu et al.   MOLECULAR GENETICS AND GENOMICS

A scaling normalization method for differential expression analysis of RNA-seq data

(2010) Mark D Robinson et al.   GENOME BIOLOGY

Presenilins Are Enriched in Endoplasmic Reticulum Membranes Associated with Mitochondria

(2009) Estela Area-Gomez et al.   AMERICAN JOURNAL OF PATHOLOGY

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

BioMart – biological queries made easy

(2009) Damian Smedley et al.   BMC GENOMICS

MAM: more than just a housekeeper

(2009) Teruo Hayashi et al.   TRENDS IN CELL BIOLOGY

The neuronal sortilin-related receptor gene SORL1 and late-onset Alzheimer’s disease

(2008) Joseph H. Lee et al.   Current Neurology and Neuroscience Reports

A Transcriptome Database for Astrocytes, Neurons, and Oligodendrocytes: A New Resource for Understanding Brain Development and Function

(2008) J. D. Cahoy et al.   JOURNAL OF NEUROSCIENCE