Insight into the Role of Extracellular Vesicles in Lysosomal Storage Disorders

Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases

(2019) André R. A. Marques et al.   JOURNAL OF CELL SCIENCE

PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca2+ homeostasis

(2019) Chiara Fedeli et al.   Autophagy

Reassessment of Exosome Composition

(2019) Dennis K. Jeppesen et al.   CELL

Alzheimer’s disease pathology propagation by exosomes containing toxic amyloid-beta oligomers

(2018) Maitrayee Sardar Sinha et al.   ACTA NEUROPATHOLOGICA

Chloroquine inhibits autophagic flux by decreasing autophagosome-lysosome fusion

(2018) Mario Mauthe et al.   Autophagy

Genetics and Therapies for GM2 Gangliosidosis

(2018) Maria Begona Cachon-Gonzalez et al.   CURRENT GENE THERAPY

Endo-lysosomal dysfunction: a converging mechanism in neurodegenerative diseases

(2018) Chao Wang et al.   CURRENT OPINION IN NEUROBIOLOGY

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

Extracellular Vesicles as Conveyors of Membrane-Derived Bioactive Lipids in Immune System

(2018) Krizia Sagini et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Detection of Aggregation-Competent Tau in Neuron-Derived Extracellular Vesicles

(2018) Francesc Guix et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Autophagy regulates exosomal release of prions in neuronal cells

(2018) Basant A. Abdulrahman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

(2018) Sandra Sirrs et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Role of sphingolipids in the biogenesis and biological activity of extracellular vesicles

(2018) Claudia Verderio et al.   JOURNAL OF LIPID RESEARCH

Subpopulations of extracellular vesicles and their therapeutic potential

(2018) Cecilia Lässer et al.   MOLECULAR ASPECTS OF MEDICINE

Lysosome trafficking and signaling in health and neurodegenerative diseases

(2018) Pearl P.Y. Lie et al.   NEUROBIOLOGY OF DISEASE

Neuronal lysosomal dysfunction releases exosomes harboring APP C-terminal fragments and unique lipid signatures

(2018) André M. Miranda et al.   Nature Communications

Linear Cyclodextrin Polymer Prodrugs as Novel Therapeutics for Niemann-Pick Type C1 Disorder

(2018) Aditya Kulkarni et al.   Scientific Reports

Distinct Mechanisms of Pathogenic DJ-1 Mutations in Mitochondrial Quality Control

(2018) Daniela Strobbe et al.   Frontiers in Molecular Neuroscience

Apoptotic Tumor Cell-Derived Extracellular Vesicles as Important Regulators of the Onco-Regenerative Niche

(2018) Christopher D. Gregory et al.   Frontiers in Immunology

The interplay between exosomes and autophagy – partners in crime

(2018) Jing Xu et al.   JOURNAL OF CELL SCIENCE

Neurological effects of glucocerebrosidase gene mutations

(2018) S. Mullin et al.   EUROPEAN JOURNAL OF NEUROLOGY

Specificities of secretion and uptake of exosomes and other extracellular vesicles for cell-to-cell communication

(2018) Mathilde Mathieu et al.   NATURE CELL BIOLOGY

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Autophagy’s secret life: secretion instead of degradation

(2017) Aurore Claude-Taupin et al.   Essays in Biochemistry

Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease

(2017) Emmanuelle Lecommandeur et al.   JOURNAL OF LIPID RESEARCH

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

(2017) Daniel S Ory et al.   LANCET

miR-200a targets Gelsolin: A novel mechanism regulating secretion of microvesicles in hepatocellular carcinoma cells

(2017) Ya Xu et al.   ONCOLOGY REPORTS

Cellular Functions and Molecular Mechanisms of the ESCRT Membrane-Scission Machinery

(2017) Liliane Christ et al.   TRENDS IN BIOCHEMICAL SCIENCES

ATP Modifies the Proteome of Extracellular Vesicles Released by Microglia and Influences Their Action on Astrocytes

(2017) Francesco Drago et al.   Frontiers in Pharmacology

Mitophagy in Parkinson’s Disease: Pathogenic and Therapeutic Implications

(2017) Fei Gao et al.   Frontiers in Neurology

Psychosine enhances the shedding of membrane microvesicles: Implications in demyelination in Krabbe’s disease

(2017) Ludovic D’Auria et al.   PLoS One

Extracellular vesicles released by fibroblasts undergoing H-Ras induced senescence show changes in lipid profile

(2017) Sandra Buratta et al.   PLoS One

Neurons Export Extracellular Vesicles Enriched in Cysteine String Protein and Misfolded Protein Cargo

(2017) Jingti Deng et al.   Scientific Reports

A novel curcumin analog binds to and activates TFEB in vitro and in vivo independent of MTOR inhibition

(2016) Ju-Xian Song et al.   Autophagy

Communication by Extracellular Vesicles: Where We Are and Where We Need to Go

(2016) Mercedes Tkach et al.   CELL

Potential Transfer of Polyglutamine and CAG-Repeat RNA in Extracellular Vesicles in Huntington’s Disease: Background and Evaluation in Cell Culture

(2016) Xuan Zhang et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Migalastat: First Global Approval

(2016) Anthony Markham   DRUGS

Stem Cell Therapy for the Central Nervous System in Lysosomal Storage Diseases

(2016) Faez Siddiqi et al.   HUMAN GENE THERAPY

Exosomes in the Pathology of Neurodegenerative Diseases

(2016) Jason Howitt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

(2016) Derralynn A Hughes et al.   JOURNAL OF MEDICAL GENETICS

Port-to-port delivery: Mobilization of toxic sphingolipids via extracellular vesicles

(2016) Giuseppe Scesa et al.   JOURNAL OF NEUROSCIENCE RESEARCH

A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders

(2016) Jeff Rappaport et al.   MOLECULAR PHARMACEUTICS

Proteomic comparison defines novel markers to characterize heterogeneous populations of extracellular vesicle subtypes

(2016) Joanna Kowal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lipid somersaults: Uncovering the mechanisms of protein-mediated lipid flipping

(2016) Thomas Günther Pomorski et al.   PROGRESS IN LIPID RESEARCH

Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses

(2016) Thomas Kirkegaard et al.   Science Translational Medicine

ISGylation controls exosome secretion by promoting lysosomal degradation of MVB proteins

(2016) Carolina Villarroya-Beltri et al.   Nature Communications

The Parkinson’s disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway

(2016) Carla F. Bento et al.   Nature Communications

Tetherin is an exosomal tether

(2016) James R Edgar et al.   eLife

Defective Autophagy, Mitochondrial Clearance and Lipophagy in Niemann-Pick Type B Lymphocytes

(2016) Barbara Canonico et al.   PLoS One

A role for the autophagy regulator Transcription Factor EB in amiodarone-induced phospholipidosis

(2015) Sandra Buratta et al.   BIOCHEMICAL PHARMACOLOGY

In vivo genome editing of the albumin locus as a platform for protein replacement therapy

(2015) R. Sharma et al.   BLOOD

Heparanase activates the syndecan-syntenin-ALIX exosome pathway

(2015) Bart Roucourt et al.   CELL RESEARCH

Cord blood is the optimal graft source for the treatment of pediatric patients with lysosomal storage diseases: clinical outcomes and future directions

(2015) Mieke Aldenhoven et al.   CYTOTHERAPY

Evaluating the risk of phospholipidosis using a new multidisciplinary pipeline approach

(2015) Laura Goracci et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Dysfunction of Platelet-derived Growth Factor Receptor α (PDGFRα) Represses the Production of Oligodendrocytes from Arylsulfatase A-deficient Multipotential Neural Precursor Cells

(2015) Katarzyna C. Pituch et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

RAL-1 controls multivesicular body biogenesis and exosome secretion

(2015) Vincent Hyenne et al.   JOURNAL OF CELL BIOLOGY

ATG12–ATG3 interacts with Alix to promote basal autophagic flux and late endosome function

(2015) Lyndsay Murrow et al.   NATURE CELL BIOLOGY

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

(2015) Charles H. Vite et al.   Science Translational Medicine

Extracellular Vesicles in Cancer: Exosomes, Microvesicles and the Emerging Role of Large Oncosomes

(2015) Valentina R. Minciacchi et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

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

Curcumin Mitigates the Intracellular Lipid Deposit Induced by Antipsychotics In Vitro

(2015) Alberto Canfrán-Duque et al.   PLoS One

Biogenesis, Secretion, and Intercellular Interactions of Exosomes and Other Extracellular Vesicles

(2014) Marina Colombo et al.   Annual Review of Cell and Developmental Biology

Neurodegenerative lysosomal disorders: A continuum from development to late age

(2014) Ralph A. Nixon et al.   Autophagy

Autophagy modulates SNCA/α-synuclein release, thereby generating a hostile microenvironment

(2014) Anne-Maria Poehler et al.   Autophagy

EVpedia: a community web portal for extracellular vesicles research

(2014) D.-K. Kim et al.   BIOINFORMATICS

Systemic administration of 2-hydroxypropyl-β-cyclodextrin to symptomatic Npc1-deficient mice slows cholesterol sequestration in the major organs and improves liver function

(2014) Adam M Lopez et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

Hypoxia-inducible factors and RAB22A mediate formation of microvesicles that stimulate breast cancer invasion and metastasis

(2014) T. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms

(2014) Leslie I. Grad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of mTORC1 by amino acids

(2014) Liron Bar-Peled et al.   TRENDS IN CELL BIOLOGY

Syntenin-ALIX exosome biogenesis and budding into multivesicular bodies are controlled by ARF6 and PLD2

(2014) Rania Ghossoub et al.   Nature Communications

Tetraspanins in Extracellular Vesicle Formation and Function

(2014) Zoraida Andreu et al.   Frontiers in Immunology

Anti- 2GPI antibodies stimulate endothelial cell microparticle release via a nonmuscle myosin II motor protein-dependent pathway

(2013) V. Betapudi et al.   BLOOD

The hallmarks of Parkinson's disease

(2013) Paul M. A. Antony et al.   FEBS Journal

Analysis of ESCRT functions in exosome biogenesis, composition and secretion highlights the heterogeneity of extracellular vesicles

(2013) Marina Colombo et al.   JOURNAL OF CELL SCIENCE

Curcumin promotes exosomes/microvesicles secretion that attenuates lysosomal cholesterol traffic impairment

(2013) Alberto Canfrán-Duque et al.   MOLECULAR NUTRITION & FOOD RESEARCH

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

(2013) Carmine Settembre et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Transplantation of human umbilical mesenchymal stem cells cures the corneal defects of mucopolysaccharidosis VII mice

(2013) Vivien Jane Coulson-Thomas et al.   STEM CELLS

Activation of Autophagy Rescues Amiodarone-Induced Apoptosis of Lung Epithelial Cells and Pulmonary Toxicity in Rats

(2013) Kang-Yo Lee et al.   TOXICOLOGICAL SCIENCES

Ongoing activation of sphingosine 1-phosphate receptors mediates maturation of exosomal multivesicular endosomes

(2013) Taketoshi Kajimoto et al.   Nature Communications

Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains

(2013) Takashi Nonaka et al.   Cell Reports

Signaling Pathways in Exosomes Biogenesis, Secretion and Fate

(2013) Lorena Urbanelli et al.   Genes

Drug induced phospholipidosis: An acquired lysosomal storage disorder

(2012) James A. Shayman et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The Exosome Secretory Pathway Transports Amyloid Precursor Protein Carboxyl-terminal Fragments from the Cell into the Brain Extracellular Space

(2012) Rocio Perez-Gonzalez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Atypical antipsychotics alter cholesterol and fatty acid metabolism in vitro

(2012) Alberto Canfrán-Duque et al.   JOURNAL OF LIPID RESEARCH

Exosomal cell-to-cell transmission of alpha synuclein oligomers

(2012) Karin M Danzer et al.   Molecular Neurodegeneration

Lysosome-dependent pathways as a unifying theme in Parkinson's disease

(2012) George K. Tofaris   MOVEMENT DISORDERS

Syndecan–syntenin–ALIX regulates the biogenesis of exosomes

(2012) Maria Francesca Baietti et al.   NATURE CELL BIOLOGY

Stem Cell Microvesicles Transfer Cystinosin to Human Cystinotic Cells and Reduce Cystine Accumulation In Vitro

(2012) Diana M. Iglesias et al.   PLoS One

Formation and release of arrestin domain-containing protein 1-mediated microvesicles (ARMMs) at plasma membrane by recruitment of TSG101 protein

(2012) J. F. Nabhan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Vesiclepedia: A Compendium for Extracellular Vesicles with Continuous Community Annotation

(2012) Hina Kalra et al.   PLOS BIOLOGY

Multivesicular Body Morphogenesis

(2011) Phyllis I. Hanson et al.   Annual Review of Cell and Developmental Biology

Tetraspanins regulate the protrusive activities of cell membrane

(2011) Rafijul Bari et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Amiodarone impairs trafficking through late endosomes inducing a Niemann-Pick C-like phenotype

(2011) Elena Piccoli et al.   BIOCHEMICAL PHARMACOLOGY

Diacylglycerol kinase α regulates the formation and polarisation of mature multivesicular bodies involved in the secretion of Fas ligand-containing exosomes in T lymphocytes

(2011) R Alonso et al.   CELL DEATH AND DIFFERENTIATION

Cellular Responses Associated with Dibucaine-Induced Phospholipidosis

(2011) Ana Peropadre et al.   CHEMICAL RESEARCH IN TOXICOLOGY

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

(2011) Diego L. Medina et al.   DEVELOPMENTAL CELL

The Tetraspanin CD63 Regulates ESCRT-Independent and -Dependent Endosomal Sorting during Melanogenesis

(2011) Guillaume van Niel et al.   DEVELOPMENTAL CELL

Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission

(2011) Lydia Alvarez-Erviti et al.   NEUROBIOLOGY OF DISEASE

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Exosome Secretion Ameliorates Lysosomal Storage of Cholesterol in Niemann-Pick Type C Disease

(2010) Katrin Strauss et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exosome release of β-catenin: a novel mechanism that antagonizes Wnt signaling

(2010) Arthit Chairoungdua et al.   JOURNAL OF CELL BIOLOGY

Effect of Phospholipidosis on the Cellular Pharmacokinetics of Chloroquine

(2010) N. Zheng et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Membrane budding and scission by the ESCRT machinery: it's all in the neck

(2010) James H. Hurley et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Haloperidol disrupts lipid rafts and impairs insulin signaling in SH-SY5Y cells

(2010) J. Sánchez-Wandelmer et al.   NEUROSCIENCE

Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis

(2010) Fannie W. Chen et al.   PLoS One

Intracellular sequestration of amiodarone: role of vacuolar ATPase and macroautophagic transition of the resulting vacuolar cytopathology

(2009) G Morissette et al.   BRITISH JOURNAL OF PHARMACOLOGY

Screening for the Drug-Phospholipid Interaction: Correlation to Phospholipidosis

(2009) Juha-Matti Alakoskela et al.   ChemMedChem

Cholesterol Synthesis Inhibitor U18666A and the Role of Sterol Metabolism and Trafficking in Numerous Pathophysiological Processes

(2009) Richard J. Cenedella   LIPIDS

The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins

(2009) Camilla Raiborg et al.   NATURE

Rab27a and Rab27b control different steps of the exosome secretion pathway

(2009) Matias Ostrowski et al.   NATURE CELL BIOLOGY

Screen for Chemical Modulators of Autophagy Reveals Novel Therapeutic Inhibitors of mTORC1 Signaling

(2009) Aruna D. Balgi et al.   PLoS One

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Multivesicular Endosome Biogenesis in the Absence of ESCRTs

(2009) Susanne Stuffers et al.   TRAFFIC

Drug-induced phospholipidosis is caused by blockade of mannose 6-phosphate receptor-mediated targeting of lysosomal enzymes

(2008) Kazuhiko Ikeda et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Senescence-Associated Exosome Release from Human Prostate Cancer Cells

(2008) B. D. Lehmann et al.   CANCER RESEARCH

Inhibition of γ-secretase causes increased secretion of amyloid precursor protein C-terminal fragments in association with exosomes

(2008) Robyn A. Sharples et al.   FASEB JOURNAL

Ceramide Triggers Budding of Exosome Vesicles into Multivesicular Endosomes

(2008) K. Trajkovic et al.   SCIENCE

Drug-induced Phospholipidosis -Pathological Aspects and Its Prediction

(2008) Takashi Nonoyama et al.   Journal of Toxicologic Pathology

Cathepsin D expression is decreased in Alzheimer's disease fibroblasts

(2006) Lorena Urbanelli et al.   NEUROBIOLOGY OF AGING