Endo-lysosomal dysregulations and late-onset Alzheimer’s disease: impact of genetic risk factors

Adult hippocampal neurogenesis is abundant in neurologically healthy subjects and drops sharply in patients with Alzheimer’s disease

(2019) Elena P. Moreno-Jiménez et al.   NATURE MEDICINE

Reduction of the expression of the late-onset Alzheimer's disease (AD) risk-factor BIN1 does not affect amyloid pathology in an AD mouse model

(2019) Robert J. Andrew et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Blood–brain barrier transcytosis genes, risk of dementia and stroke: a prospective cohort study of 74,754 individuals

(2019) Ida Juul Rasmussen et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

The cholinergic system in the pathophysiology and treatment of Alzheimer’s disease

(2018) Harald Hampel et al.   BRAIN

The concerted amyloid-beta clearance of LRP1 and ABCB1/P-gp across the blood-brain barrier is linked by PICALM

(2018) Steffen E. Storck et al.   BRAIN BEHAVIOR AND IMMUNITY

Analysis of novel endosome-to-Golgi retrieval genes reveals a role for PLD3 in regulating endosomal protein sorting and amyloid precursor protein processing

(2018) Aamir S. Mukadam et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Clinical Trials for Disease-Modifying Therapies in Alzheimer’s Disease: A Primer, Lessons Learned, and a Blueprint for the Future

(2018) Jeffrey Cummings et al.   JOURNAL OF ALZHEIMERS DISEASE

Erythromyeloid-Derived TREM2: A Major Determinant of Alzheimer’s Disease Pathology in Down Syndrome

(2018) Ruma Raha-Chowdhury et al.   JOURNAL OF ALZHEIMERS DISEASE

Blood–brain barrier breakdown in Alzheimer disease and other neurodegenerative disorders

(2018) Melanie D. Sweeney et al.   Nature Reviews Neurology

A Roma founderBIN1mutation causes a novel phenotype of centronuclear myopathy with rigid spine

(2018) Macarena Cabrera-Serrano et al.   NEUROLOGY

Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH

(2018) Hari Prasad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Front Cover: Organellar Omics - A Reviving Strategy to Untangle the Biomolecular Complexity of the Cell

(2018) Arun Kumar Tharkeshwar et al.   PROTEOMICS

Unconventional Trafficking of Mammalian Phospholipase D3 to Lysosomes

(2018) Adriana Carolina Gonzalez et al.   Cell Reports

Dynamic clustering of dynamin-amphiphysin helices regulates membrane constriction and fission coupled with GTP hydrolysis

(2018) Tetsuya Takeda et al.   eLife

Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease

(2018) Maria V. Fernández et al.   Frontiers in Neuroscience

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

(2018) Neha S. Raghavan et al.   Annals of Clinical and Translational Neurology

Surface-Modified Nanocarriers for Nose-to-Brain Delivery: From Bioadhesion to Targeting

(2018) Fabio Sonvico et al.   Pharmaceutics

Intestinal barrier tightening by a cell-penetrating antibody to Bin1, a candidate target for immunotherapy of ulcerative colitis

(2018) Sunil Thomas et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility

(2018) Towfique Raj et al.   NATURE GENETICS

PLD3 and PLD4 are single-stranded acid exonucleases that regulate endosomal nucleic-acid sensing

(2018) Amanda L. Gavin et al.   NATURE IMMUNOLOGY

PLD3 epigenetic changes in the hippocampus of Alzheimer’s disease

(2018) Idoia Blanco-Luquin et al.   Clinical Epigenetics

Human stem cell–derived monocytes and microglia-like cells reveal impaired amyloid plaque clearance upon heterozygous or homozygous loss of TREM2

(2018) Christel Claes et al.   Alzheimers & Dementia

Genetic risk score modifies the effect of APOE on risk and age onset of Alzheimer's disease

(2018) Zhuqing Shi et al.   CLINICAL GENETICS

High‐affinity interactions and signal transduction between Aβ oligomers and TREM2

(2018) Christian B Lessard et al.   EMBO Molecular Medicine

Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer’s Disease Cerebrospinal Fluid Biomarkers

(2018) Mafalda Ramos de Matos et al.   JOURNAL OF ALZHEIMERS DISEASE

Next Generation Sequencing Analysis in Early Onset Dementia Patients

(2018) Cristian Bonvicini et al.   JOURNAL OF ALZHEIMERS DISEASE

The trans-Golgi network is a major site for α-secretase processing of amyloid precursor protein in primary neurons

(2018) Jing Zhi Anson Tan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Blood-brain barrier-associated pericytes internalize and clear aggregated amyloid-β42 by LRP1-dependent apolipoprotein E isoform-specific mechanism

(2018) Qingyi Ma et al.   Molecular Neurodegeneration

Deep proteomic network analysis of Alzheimer’s disease brain reveals alterations in RNA binding proteins and RNA splicing associated with disease

(2018) Erik C. B. Johnson et al.   Molecular Neurodegeneration

New insights into the role of TREM2 in Alzheimer’s disease

(2018) Maud Gratuze et al.   Molecular Neurodegeneration

Reversal of ApoE4-induced recycling block as a novel prevention approach for Alzheimer’s disease

(2018) Xunde Xian et al.   eLife

Regulation of the interaction between the neuronal BIN1 isoform 1 and Tau proteins - role of the SH3 domain

(2017) Idir Malki et al.   FEBS Journal

The TREM2-APOE Pathway Drives the Transcriptional Phenotype of Dysfunctional Microglia in Neurodegenerative Diseases

(2017) Susanne Krasemann et al.   IMMUNITY

Molecular basis of interactions between SH3 domain-containing proteins and the proline-rich region of the ubiquitin ligase Itch

(2017) Guillaume Desrochers et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PAWS1 controls cytoskeletal dynamics and cell migration through association with the SH3 adaptor CD2AP

(2017) Timothy D. Cummins et al.   JOURNAL OF CELL SCIENCE

Endothelial CD2AP Binds the Receptor ICAM-1 To Control Mechanosignaling, Leukocyte Adhesion, and the Route of Leukocyte Diapedesis In Vitro

(2017) Antje Schaefer et al.   JOURNAL OF IMMUNOLOGY

An isogenic blood-brain barrier model comprising brain endothelial cells, astrocytes, and neurons derived from human induced pluripotent stem cells

(2017) Scott G. Canfield et al.   JOURNAL OF NEUROCHEMISTRY

Multiscale network modeling of oligodendrocytes reveals molecular components of myelin dysregulation in Alzheimer’s disease

(2017) Andrew T. McKenzie et al.   Molecular Neurodegeneration

PLD3 gene and processing of APP

(2017) Pietro Fazzari et al.   NATURE

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

(2017) Kuan-lin Huang et al.   NATURE NEUROSCIENCE

A systemic view of Alzheimer disease — insights from amyloid-β metabolism beyond the brain

(2017) Jun Wang et al.   Nature Reviews Neurology

Apolipoprotein E4 Impairs Neuronal Insulin Signaling by Trapping Insulin Receptor in the Endosomes

(2017) Na Zhao et al.   NEURON

ApoE4 Accelerates Early Seeding of Amyloid Pathology

(2017) Chia-Chen Liu et al.   NEURON

Hallmarks of Alzheimer’s Disease in Stem-Cell-Derived Human Neurons Transplanted into Mouse Brain

(2017) Ira Espuny-Camacho et al.   NEURON

Targeting blood-brain-barrier transcytosis – perspectives for drug delivery

(2017) Imre Mäger et al.   NEUROPHARMACOLOGY

Lysosomal metabolomics reveals V-ATPase- and mTOR-dependent regulation of amino acid efflux from lysosomes

(2017) Monther Abu-Remaileh et al.   SCIENCE

The blood brain barrier in Alzheimer’s disease

(2017) A. Chakraborty et al.   VASCULAR PHARMACOLOGY

Re-characterization of the Glomerulopathy in CD2AP Deficient Mice by High-Resolution Helium Ion Scanning Microscopy

(2017) Kenji Tsuji et al.   Scientific Reports

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency

(2017) Arun Kumar Tharkeshwar et al.   Scientific Reports

The ESCRT-III pathway facilitates cardiomyocyte release of cBIN1-containing microparticles

(2017) Bing Xu et al.   PLOS BIOLOGY

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

(2017) Tal Nuriel et al.   Frontiers in Neuroscience

Molecular genetics of early-onset Alzheimer's disease revisited

(2016) Rita Cacace et al.   Alzheimers & Dementia

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arf6 and the 5'phosphatase of synaptojanin 1 regulate autophagy in cone photoreceptors

(2016) Ashley A. George et al.   BIOESSAYS

Decreasing the expression of PICALM reduces endocytosis and the activity of β-secretase: implications for Alzheimer’s disease

(2016) Rhian S. Thomas et al.   BMC NEUROSCIENCE

Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool

(2016) Ragna Sannerud et al.   CELL

Bin1 and CD2AP polarise the endocytic generation of beta‐amyloid

(2016) Florent Ubelmann et al.   EMBO REPORTS

Partial loss of CALM function reduces Aβ42 production and amyloid depositionin vivo

(2016) Kunihiko Kanatsu et al.   HUMAN MOLECULAR GENETICS

Adaptor Protein CD2AP and L-type Lectin LMAN2 Regulate Exosome Cargo Protein Trafficking through the Golgi Complex

(2016) Sang-Ho Kwon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells

(2016) Atsuhiro Nakajo et al.   JOURNAL OF CELL BIOLOGY

Subcellular Changes in Bridging Integrator 1 Protein Expression in the Cerebral Cortex During the Progression of Alzheimer Disease Pathology

(2016) Stephanie L. Adams et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The Adaptor Protein CD2AP Is a Coordinator of Neurotrophin Signaling-Mediated Axon Arbor Plasticity

(2016) B. J. Harrison et al.   JOURNAL OF NEUROSCIENCE

Predominant expression of Alzheimer’s disease-associated BIN1 in mature oligodendrocytes and localization to white matter tracts

(2016) Pierre De Rossi et al.   Molecular Neurodegeneration

Neuronal activity enhances tau propagation and tau pathology in vivo

(2016) Jessica W Wu et al.   NATURE NEUROSCIENCE

Level of PICALM, a key component of clathrin-mediated endocytosis, is correlated with levels of phosphotau and autophagy-related proteins and is associated with tau inclusions in AD, PSP and Pick disease

(2016) Kunie Ando et al.   NEUROBIOLOGY OF DISEASE

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

The ability of apolipoprotein E fragments to promote intraneuronal accumulation of amyloid beta peptide 42 is both isoform and size-specific

(2016) Ioannis Dafnis et al.   Scientific Reports

Loss of Bin1 Promotes the Propagation of Tau Pathology

(2016) Sara Calafate et al.   Cell Reports

Early etiology of Alzheimer’s disease: tipping the balance toward autophagy or endosomal dysfunction?

(2015) Aleksandar Peric et al.   ACTA NEUROPATHOLOGICA

A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ 42

(2015) Kristel Sleegers et al.   Alzheimers & Dementia

The Alzheimer's disease risk factor CD2AP maintains blood–brain barrier integrity

(2015) J. Nicholas Cochran et al.   HUMAN MOLECULAR GENETICS

Differential Recognition Preferences of the Three Src Homology 3 (SH3) Domains from the Adaptor CD2-associated Protein (CD2AP) and Direct Association with Ras and Rab Interactor 3 (RIN3)

(2015) Evgenia Rouka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2)

(2015) Yuka Atagi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Effects of CD2-associated protein deficiency on amyloid-β in neuroblastoma cells and in an APP transgenic mouse model

(2015) Fan Liao et al.   Molecular Neurodegeneration

Central role for PICALM in amyloid-β blood-brain barrier transcytosis and clearance

(2015) Zhen Zhao et al.   NATURE NEUROSCIENCE

Depletion of microglia and inhibition of exosome synthesis halt tau propagation

(2015) Hirohide Asai et al.   NATURE NEUROSCIENCE

Altered lysosomal proteins in neural-derived plasma exosomes in preclinical Alzheimer disease

(2015) Edward J. Goetzl et al.   NEUROLOGY

Phospholipid dysregulation contributes to ApoE4-associated cognitive deficits in Alzheimer’s disease pathogenesis

(2015) Li Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Presenilin 1 Maintains Lysosomal Ca2+ Homeostasis via TRPML1 by Regulating vATPase-Mediated Lysosome Acidification

(2015) Ju-Hyun Lee et al.   Cell Reports

APOE ε4: The most prevalent yet understudied risk factor for Alzheimer's disease

(2014) Daniel M. Michaelson   Alzheimers & Dementia

Transferrin receptor (TfR) trafficking determines brain uptake of TfR antibody affinity variants

(2014) Nga Bien-Ly et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Incidence of cerebral microbleeds in preclinical Alzheimer disease

(2014) P. A. Yates et al.   NEUROLOGY

β-amyloid Peptides and Amyloid Plaques in Alzheimer’s Disease

(2014) Gunnar K. Gouras et al.   Neurotherapeutics

Genetics of PICALM Expression and Alzheimer's Disease

(2014) Ishita Parikh et al.   PLoS One

Characterization of novel markers of senescence and their prognostic potential in cancer

(2014) M Althubiti et al.   Cell Death & Disease

Decreased CALM expression reduces Aβ42 to total Aβ ratio through clathrin-mediated endocytosis of γ-secretase

(2014) Kunihiko Kanatsu et al.   Nature Communications

PICALM modulates autophagy activity and tau accumulation

(2014) Kevin Moreau et al.   Nature Communications

PLD3 is accumulated on neuritic plaques in Alzheimer’s disease brains

(2014) Jun-ichi Satoh et al.   Alzheimers Research & Therapy

Genome-wide RNAi Screen Reveals a Role for Multipass Membrane Proteins in Endosome-to-Golgi Retrieval

(2014) Sophia Y. Breusegem et al.   Cell Reports

Clathrin adaptor CALM/PICALM is associated with neurofibrillary tangles and is cleaved in Alzheimer’s brains

(2013) Kunie Ando et al.   ACTA NEUROPATHOLOGICA

Blocking the Interaction between Apolipoprotein E and Aβ Reduces Intraneuronal Accumulation of Aβ and Inhibits Synaptic Degeneration

(2013) Magdalena A. Kuszczyk et al.   AMERICAN JOURNAL OF PATHOLOGY

Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology

(2013) J Chapuis et al.   MOLECULAR PSYCHIATRY

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

(2013) Carlos Cruchaga et al.   NATURE

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

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

Microglial Beclin 1 Regulates Retromer Trafficking and Phagocytosis and Is Impaired in Alzheimer’s Disease

(2013) Kurt M. Lucin et al.   NEURON

Adaptor complex AP2/PICALM, through interaction with LC3, targets Alzheimer's APP-CTF for terminal degradation via autophagy

(2013) Y. Tian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hibris, a Drosophila Nephrin Homolog, Is Required for Presenilin-Mediated Notch and APP-like Cleavages

(2012) Jaskirat Singh et al.   DEVELOPMENTAL CELL

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

Role of Phosphatidylinositol Clathrin Assembly Lymphoid-Myeloid Leukemia (PICALM) in Intracellular Amyloid Precursor Protein (APP) Processing and Amyloid Plaque Pathogenesis

(2012) Qingli Xiao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomal calcium homeostasis defects, not proton pump defects, cause endo-lysosomal dysfunction in PSEN-deficient cells

(2012) Katrijn Coen et al.   JOURNAL OF CELL BIOLOGY

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

TREM2 Variants in Alzheimer's Disease

(2012) Rita Guerreiro et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Role for Phospholipase D3 in Myotube Formation

(2012) Mary Osisami et al.   PLoS One

The Clathrin Assembly Protein PICALM Is Required for Erythroid Maturation and Transferrin Internalization in Mice

(2012) Mai Suzuki et al.   PLoS One

The PICALM Protein Plays a Key Role in Iron Homeostasis and Cell Proliferation

(2012) Paula B. Scotland et al.   PLoS One

Self-Association and Stability of the ApoE Isoforms at Low pH: Implications for ApoE–Lipid Interactions

(2011) Kanchan Garai et al.   BIOCHEMISTRY

The Molecular Basis for the Endocytosis of Small R-SNAREs by the Clathrin Adaptor CALM

(2011) Sharon E. Miller et al.   CELL

A novel strategy for the comprehensive analysis of the biomolecular composition of isolated plasma membranes

(2011) D. B. Thimiri Govinda Raj et al.   Molecular Systems Biology

Autophagy failure in Alzheimer's disease—locating the primary defect

(2011) Ralph A. Nixon et al.   NEUROBIOLOGY OF DISEASE

ADP ribosylation factor 6 (ARF6) controls amyloid precursor protein (APP) processing by mediating the endosomal sorting of BACE1

(2011) R. Sannerud et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional Links Between A  Toxicity, Endocytic Trafficking, and Alzheimer's Disease Risk Factors in Yeast

(2011) S. Treusch et al.   SCIENCE

Novel Research Horizons for Presenilins and γ-Secretases in Cell Biology and Disease

(2010) Bart De Strooper et al.   Annual Review of Cell and Developmental Biology

Microarray Analysis of Hippocampal CA1 Neurons Implicates Early Endosomal Dysfunction During Alzheimer's Disease Progression

(2010) Stephen D. Ginsberg et al.   BIOLOGICAL PSYCHIATRY

Rac1 Recruits the Adapter Protein CMS/CD2AP to Cell-Cell Contacts

(2010) Trynette J. van Duijn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clathrin assembly proteins AP180 and CALM in the embryonic rat brain

(2010) Catherine M. Schwartz et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Distribution and Expression of Picalm in Alzheimer Disease

(2010) Shabnam Baig et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mechanism of amyloid plaque formation suggests an intracellular basis of A  pathogenicity

(2010) R. P. Friedrich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ApoE4 reduces glutamate receptor function and synaptic plasticity by selectively impairing ApoE receptor recycling

(2010) Y. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Interprotofilament interactions between Alzheimer's A 1-42 peptides in amyloid fibrils revealed by cryoEM

(2009) R. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Behavior of neural stem cells in the Alzheimer brain

(2008) B. Waldau et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

CD2-associated protein is widely expressed and differentially regulated during embryonic development

(2008) Sanna Lehtonen et al.   DIFFERENTIATION

Clathrin Assembly Protein AP180 and CALM Differentially Control Axogenesis and Dendrite Outgrowth in Embryonic Hippocampal Neurons

(2008) I. Bushlin et al.   JOURNAL OF NEUROSCIENCE

Flotillin-Dependent Clustering of the Amyloid Precursor Protein Regulates Its Endocytosis and Amyloidogenic Processing in Neurons

(2008) A. Schneider et al.   JOURNAL OF NEUROSCIENCE

Evidence for CALM in Directing VAMP2 Trafficking

(2008) Asaff Harel et al.   TRAFFIC