APP and DYRK1A regulate axonal and synaptic vesicle protein networks and mediate Alzheimer’s pathology in trisomy 21 neurons

Stem cell-derived neurons reflect features of protein networks, neuropathology, and cognitive outcome of their aged human donors

(2021) Valentina N. Lagomarsino et al.   NEURON

Silencing Trisomy 21 with XIST in Neural Stem Cells Promotes Neuronal Differentiation

(2020) Jan Tomasz Czermiński et al.   DEVELOPMENTAL CELL

Human iPSC-derived Down syndrome astrocytes display genome-wide perturbations in gene expression, an altered adhesion profile, and increased cellular dynamics

(2020) Blandine Ponroy Bally et al.   HUMAN MOLECULAR GENETICS

A Compact Quadrupole-Orbitrap Mass Spectrometer with FAIMS Interface Improves Proteome Coverage in Short LC Gradients

(2020) Dorte B. Bekker-Jensen et al.   MOLECULAR & CELLULAR PROTEOMICS

Large-scale proteomic analysis of Alzheimer’s disease brain and cerebrospinal fluid reveals early changes in energy metabolism associated with microglia and astrocyte activation

(2020) Erik C. B. Johnson et al.   NATURE MEDICINE

Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome

(2020) Alexandra Botté et al.   Acta Neuropathologica Communications

Global quantitative analysis of the human brain proteome and phosphoproteome in Alzheimer’s disease

(2020) Lingyan Ping et al.   Scientific Data

Integrated proteomics reveals brain-based cerebrospinal fluid biomarkers in asymptomatic and symptomatic Alzheimer’s disease

(2020) Lenora Higginbotham et al.   Science Advances

Alzheimer‐like pathology in trisomy 21 cerebral organoids amenable to pharmacological inhibition reveals BACE2 as a gene‐dose‐sensitive AD‐suppressor in human brain

(2020) Ivan Alic et al.   Alzheimers & Dementia

Binding and transport of SFPQ-RNA granules by KIF5A/KLC1 motors promotes axon survival

(2020) Yusuke Fukuda et al.   JOURNAL OF CELL BIOLOGY

OLIG2 Drives Abnormal Neurodevelopmental Phenotypes in Human iPSC-Based Organoid and Chimeric Mouse Models of Down Syndrome

(2019) Ranjie Xu et al.   Cell Stem Cell

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

(2019) Maria Sobol et al.   MOLECULAR NEUROBIOLOGY

A High-Content Screen Identifies TPP1 and Aurora B as Regulators of Axonal Mitochondrial Transport

(2019) Evgeny Shlevkov et al.   Cell Reports

Tau-Mediated Disruption of the Spliceosome Triggers Cryptic RNA Splicing and Neurodegeneration in Alzheimer’s Disease

(2019) Yi-Chen Hsieh et al.   Cell Reports

Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP

(2018) Frances K Wiseman et al.   BRAIN

Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer's Disease

(2018) Daniel J. Colacurcio et al.   FREE RADICAL BIOLOGY AND MEDICINE

Transcriptome analysis of genetically matched human induced pluripotent stem cells disomic or trisomic for chromosome 21

(2018) Patrick K. Gonzales et al.   PLoS One

Near-atomic model of microtubule-tau interactions

(2018) Elizabeth H. Kellogg et al.   SCIENCE

Competition between microtubule-associated proteins directs motor transport

(2018) Brigette Y. Monroy et al.   Nature Communications

Modeling Down Syndrome with Patient iPSCs Reveals Cellular and Migration Deficits of GABAergic Neurons

(2018) Hai-Qin Huo et al.   Stem Cell Reports

The Impact of APP on Alzheimer-like Pathogenesis and Gene Expression in Down Syndrome iPSC-Derived Neurons

(2018) Dmitry A. Ovchinnikov et al.   Stem Cell Reports

Global quantitative analysis of the human brain proteome in Alzheimer’s and Parkinson’s Disease

(2018) Lingyan Ping et al.   Scientific Data

DYRK1A and cognition: A lifelong relationship

(2018) Maria L. Arbones et al.   PHARMACOLOGY & THERAPEUTICS

Altered γ-Secretase Processing of APP Disrupts Lysosome and Autophagosome Function in Monogenic Alzheimer’s Disease

(2018) Christy O.Y. Hung et al.   Cell Reports

Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro

(2017) Bruno H. S. Araujo et al.   MOLECULAR NEUROBIOLOGY

Differential analysis of RNA-seq incorporating quantification uncertainty

(2017) Harold Pimentel et al.   NATURE METHODS

BORC/kinesin-1 ensemble drives polarized transport of lysosomes into the axon

(2017) Ginny G. Farías et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tau directs intracellular trafficking by regulating the forces exerted by kinesin and dynein teams

(2017) Abdullah R. Chaudhary et al.   TRAFFIC

Neurofilaments and Neurofilament Proteins in Health and Disease

(2017) Aidong Yuan et al.   Cold Spring Harbor Perspectives in Biology

Cell-type Dependent Alzheimer's Disease Phenotypes: Probing the Biology of Selective Neuronal Vulnerability

(2017) Christina R. Muratore et al.   Stem Cell Reports

A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer’s Disease

(2017) Nicholas T. Seyfried et al.   Cell Systems

Modeling developmental neuropsychiatric disorders with iPSC technology: challenges and opportunities

(2016) Tracy L Young-Pearse et al.   CURRENT OPINION IN NEUROBIOLOGY

The amyloid hypothesis of Alzheimer's disease at 25 years

(2016) Dennis J Selkoe et al.   EMBO Molecular Medicine

Near-optimal probabilistic RNA-seq quantification

(2016) Nicolas L Bray et al.   NATURE BIOTECHNOLOGY

Down Syndrome Developmental Brain Transcriptome Reveals Defective Oligodendrocyte Differentiation and Myelination

(2016) Jose Luis Olmos-Serrano et al.   NEURON

RCAN1 overexpression promotes age-dependent mitochondrial dysregulation related to neurodegeneration in Alzheimer’s disease

(2015) Helen Wong et al.   ACTA NEUROPATHOLOGICA

Functions of neurofilaments in synapses

(2015) A Yuan et al.   MOLECULAR PSYCHIATRY

Neurofilament subunits are integral components of synapses and modulate neurotransmission and behavior in vivo

(2015) A Yuan et al.   MOLECULAR PSYCHIATRY

Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

(2015) Aoife Murray et al.   STEM CELLS

Aggregates of Small Nuclear Ribonucleic Acids (snRNAs) in Alzheimer's Disease

(2014) Chadwick M. Hales et al.   BRAIN PATHOLOGY

The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons

(2014) Christina R. Muratore et al.   HUMAN MOLECULAR GENETICS

Domains of genome-wide gene expression dysregulation in Down’s syndrome

(2014) Audrey Letourneau et al.   NATURE

RCAN1 Regulates Mitochondrial Function and Increases Susceptibility to Oxidative Stress in Mammalian Cells

(2014) Heshan Peiris et al.   Oxidative Medicine and Cellular Longevity

RCAN1 Overexpression Exacerbates Calcium Overloading-Induced Neuronal Apoptosis

(2014) Xiulian Sun et al.   PLoS One

Synaptojanin 1 Mutation in Parkinson’s Disease Brings Further Insight into the Neuropathological Mechanisms

(2014) Valérie Drouet et al.   Biomed Research International

Spectrins: A structural platform for stabilization and activation of membrane channels, receptors and transporters

(2013) Beata Machnicka et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

(2013) Youssef Hibaoui et al.   EMBO Molecular Medicine

Reduction of Synaptojanin 1 Accelerates Aβ Clearance and Attenuates Cognitive Deterioration in an Alzheimer Mouse Model

(2013) Li Zhu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Translating dosage compensation to trisomy 21

(2013) Jun Jiang et al.   NATURE

Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells

(2013) Yingsha Zhang et al.   NEURON

TRAK/Milton Motor-Adaptor Proteins Steer Mitochondrial Trafficking to Axons and Dendrites

(2013) Myrrhe van Spronsen et al.   NEURON

U1 small nuclear ribonucleoprotein complex and RNA splicing alterations in Alzheimer's disease

(2013) B. Bai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deficits in human trisomy 21 iPSCs and neurons

(2013) J. P. Weick et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recent developments of protein kinase inhibitors as potential AD therapeutics

(2013) Volkmar Tell et al.   Frontiers in Cellular Neuroscience

Modeling neurogenesis impairment in down syndrome with induced pluripotent stem cells from Trisomy 21 amniotic fluid cells

(2012) Huai-En Lu et al.   EXPERIMENTAL CELL RESEARCH

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

(2012) Jack-Christophe Cossec et al.   HUMAN MOLECULAR GENETICS

Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory

(2012) Katherine R. Martin et al.   HUMAN MOLECULAR GENETICS

Reduction of Synaptojanin 1 Ameliorates Synaptic and Behavioral Impairments in a Mouse Model of Alzheimer's Disease

(2012) L. B. J. McIntire et al.   JOURNAL OF NEUROSCIENCE

Role of common and rare APP DNA sequence variants in Alzheimer disease

(2012) B. V. Hooli et al.   NEUROLOGY

Integration-Free Induced Pluripotent Stem Cells Model Genetic and Neural Developmental Features of Down Syndrome Etiology

(2012) James A. Briggs et al.   STEM CELLS

Regulator of Calcineurin 1 (RCAN1) Facilitates Neuronal Apoptosis through Caspase-3 Activation

(2011) Xiulian Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of the alternative splicing of tau exon 10 by SC35 and Dyrk1A

(2011) W. Qian et al.   NUCLEIC ACIDS RESEARCH

Link Between DYRK1A Overexpression and Several-Fold Enhancement of Neurofibrillary Degeneration With 3-Repeat Tau Protein in Down Syndrome

(2010) Jerzy Wegiel et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Cognitive deficits and associated neurological complications in individuals with Down's syndrome

(2010) Ira T Lott et al.   LANCET NEUROLOGY

Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series

(2010) Daniel McNaughton et al.   NEUROBIOLOGY OF AGING

Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease

(2009) K Kasuga et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

(2009) J. O. Korbel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome

(2008) Fei Liu et al.   FASEB JOURNAL

Increased Dosage of Dyrk1A Alters Alternative Splicing Factor (ASF)-regulated Alternative Splicing of Tau in Down Syndrome

(2008) Jianhua Shi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

(2008) S. V. Voronov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Differential Regulation of Dynein and Kinesin Motor Proteins by Tau

(2008) R. Dixit et al.   SCIENCE