The rapidly evolving view of lysosomal storage diseases

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

(2020) Susanne Seemann et al.   BIOCHEMICAL JOURNAL

Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1

(2020) Kyle B. Martin et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease

(2020) Antonio Monaco et al.   MOLECULAR THERAPY

Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms

(2020) Gustavo M. Viana et al.   Journal of Clinical Medicine

Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease

(2020) Rachel Heon-Roberts et al.   Journal of Clinical Medicine

Lysosome biology in autophagy

(2020) Willa Wen-You Yim et al.   Cell Discovery

Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

(2020) Malte Lenders et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism

(2020) Xinying Hong et al.   GENETICS IN MEDICINE

Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives

(2020) Benita Claire Percival et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A substrate-specific mTORC1 pathway underlies Birt–Hogg–Dubé syndrome

(2020) Gennaro Napolitano et al.   NATURE

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

(2020) Karolina M. Stepien et al.   Journal of Clinical Medicine

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

(2020) Rita Fischetto et al.   Molecular Genetics & Genomic Medicine

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

(2020) Dora Steel et al.   ANNALS OF NEUROLOGY

Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics

(2019) Abdellah Tebani et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis

(2019) Gouri Yogalingam et al.   PLoS One

A genetic modifier of symptom onset in Pompe disease

(2019) Atze J. Bergsma et al.   EBioMedicine

Quantitative, label‐free proteomics in the symptomatic Niemann‐Pick, type C1 mouse model using standard flow liquid chromatography and thermal focusing electrospray ionization

(2019) Melissa R. Pergande et al.   PROTEOMICS

Protocol Update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0)

(2019) Huaiyu Mi et al.   Nature Protocols

Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

(2019) Xuling Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

(2019) Zoltan Lukacs et al.   CLINICA CHIMICA ACTA

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study

(2019) Giulia Polo et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Lysosomal diseases: Overview on current diagnosis and treatment

(2019) Fabiano de Oliveira Poswar et al.   GENETICS AND MOLECULAR BIOLOGY

The lysosomal disease caused by mutant VPS33A

(2019) Elena V Pavlova et al.   HUMAN MOLECULAR GENETICS

Quantitative Microproteomics Based Characterization of the Central and Peripheral Nervous System of a Mouse Model of Krabbe Disease

(2019) Davide Pellegrini et al.   MOLECULAR & CELLULAR PROTEOMICS

Mass spectrometry imaging reveals ganglioside and ceramide localization patterns during cerebellar degeneration in the Npc1−/− mouse model

(2019) Fernando Tobias et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis

(2019) Arun Babu Kumar et al.   MOLECULAR GENETICS AND METABOLISM

Interferon downstream signaling is activated early in pre-symptomatic Niemann-Pick disease type C

(2019) Samuel D. Shin et al.   NEUROSCIENCE LETTERS

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease

(2019) Andrea N. Crivaro et al.   PLoS One

Identification of serum microRNAs as potential biomarkers in Pompe disease

(2019) Ana Carrasco‐Rozas et al.   Annals of Clinical and Translational Neurology

Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review

(2019) Ankit K. Desai et al.   Annals of Translational Medicine

Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases

(2019) Brittney L Gurda et al.   HUMAN MOLECULAR GENETICS

Analysis of brain and cerebrospinal fluid from mouse models of the three major forms of neuronal ceroid lipofuscinosis reveals changes in the lysosomal proteome

(2019) David E Sleat et al.   MOLECULAR & CELLULAR PROTEOMICS

Molecular profiling of failed endochondral ossification in mucopolysaccharidosis VII

(2019) Sun H. Peck et al.   BONE

Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy

(2019) Renato Santos et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Lysosomes as dynamic regulators of cell and organismal homeostasis

(2019) Andrea Ballabio et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Structural mechanism of a Rag GTPase activation checkpoint by the lysosomal folliculin complex

(2019) Rosalie E. Lawrence et al.   SCIENCE

An Autophagy Modifier Screen Identifies Small Molecules Capable of Reducing Autophagosome Accumulation in a Model of CLN3-Mediated Neurodegeneration

(2019) Anton Petcherski et al.   Cells

Proteomic approaches in the discovery of potential urinary biomarkers of mucopolysaccharidosis type II

(2019) Xiaozhou Yuan et al.   CLINICA CHIMICA ACTA

Unique molecular signature in mucolipidosis type IV microglia

(2019) Antony Cougnoux et al.   Journal of Neuroinflammation

Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots

(2019) Clifford Ronald Scott et al.   JOURNAL OF PEDIATRICS

TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway

(2019) A. Scotto Rosato et al.   Nature Communications

Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II

(2019) Kenji Orii et al.   Diagnostics

Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria

(2018) Antje Banning et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I

(2018) William M. Pardridge et al.   BIODRUGS

The complex relationship between TFEB transcription factor phosphorylation and subcellular localization

(2018) Rosa Puertollano et al.   EMBO JOURNAL

microRNAs as biomarkers in Pompe disease

(2018) Antonietta Tarallo et al.   GENETICS IN MEDICINE

High-content screen for modifiers of Niemann-Pick type C disease in patient cells

(2018) Emily K Pugach et al.   HUMAN MOLECULAR GENETICS

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation

(2018) Maria Teresa Fiorenza et al.   HUMAN MOLECULAR GENETICS

mTORC1 and Nutrient Homeostasis: The Central Role of the Lysosome

(2018) et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Newborn Screening for Lysosomal Storage Disorders

(2018) Sharon Anderson   Journal of Pediatric Health Care

Defective collagen proteostasis and matrix formation in the pathogenesis of lysosomal storage disorders

(2018) Carmine Settembre et al.   MATRIX BIOLOGY

Lysosomal proteome and secretome analysis identifies missorted enzymes and their non-degraded substrates in mucolipidosis III mouse cells

(2018) Giorgia Di Lorenzo et al.   MOLECULAR & CELLULAR PROTEOMICS

A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II

(2018) Hiroyuki Sonoda et al.   MOLECULAR THERAPY

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

(2018) Marco Savarese et al.   NEUROMUSCULAR DISORDERS

The intersection of lysosomal and endoplasmic reticulum calcium with autophagy defects in lysosomal diseases

(2018) Elaine A. Liu et al.   NEUROSCIENCE LETTERS

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

NUFIP1 is a ribosome receptor for starvation-induced ribophagy

(2018) Gregory A. Wyant et al.   SCIENCE

Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases

(2018) Ida Annunziata et al.   Cell Death & Disease

A pilot study of circulating microRNAs as potential biomarkers of Fabry disease

(2018) Giuseppe Cammarata et al.   Oncotarget

Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening

(2018) Patrick V. Hopkins et al.   JAMA Pediatrics

Automated feature detection and imaging for high-resolution screening of zebrafish embryos

(2018) Ravindra Peravali et al.   BIOTECHNIQUES

STAT3 associates with vacuolar H+-ATPase and regulates cytosolic and lysosomal pH

(2018) Bin Liu et al.   CELL RESEARCH

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

(2018) Melissa P. Wasserstein et al.   GENETICS IN MEDICINE

Exploring genetic modifiers of Gaucher disease: The next horizon

(2018) Brad A. Davidson et al.   HUMAN MUTATION

Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)

(2018) Miriam Sindelar et al.   Scientific Reports

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: a phase 1, open-label, multicenter, multinational, ascending dose study

(2018) Loren D.M. Pena et al.   NEUROMUSCULAR DISORDERS

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

Lysosomal storage diseases

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

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase

(2018) Cathrine K. Fog et al.   EBioMedicine

Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II

(2017) Roberto Costa et al.   HUMAN MOLECULAR GENETICS

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease

(2017) Sonia Canterini et al.   HUMAN MOLECULAR GENETICS

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

(2017) Marika Salvalaio et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease

(2017) Patrizia Formichi et al.   JOURNAL OF CELLULAR PHYSIOLOGY

mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy

(2017) Rosa Bartolomeo et al.   JOURNAL OF CLINICAL INVESTIGATION

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases

(2017) Afshin Saffari et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

(2017) Alberto B. Burlina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

High-content drug screening for rare diseases

(2017) F. Bellomo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial

(2017) Marc Tardieu et al.   LANCET NEUROLOGY

Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB

(2017) Haiyan Fu et al.   METABOLIC BRAIN DISEASE

The role of epigenetics in lysosomal storage disorders: Uncharted territory

(2017) Shahzeb Hassan et al.   MOLECULAR GENETICS AND METABOLISM

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology

(2017) Elisa Goina et al.   MOLECULAR THERAPY

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

(2017) Priya Kishnani et al.   MOLECULAR THERAPY

Emptying the stores: lysosomal diseases and therapeutic strategies

(2017) Frances M. Platt   NATURE REVIEWS DRUG DISCOVERY

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

(2017) Monther Abu-Remaileh et al.   SCIENCE

Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders

(2017) Nicoletta Plotegher et al.   TRENDS IN MOLECULAR MEDICINE

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

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

(2017) Fay Probert et al.   Scientific Reports

CRISPR Genome Engineering for Human Pluripotent Stem Cell Research

(2017) Somali Chaterji et al.   Theranostics

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

(2017) Bret M. Evers et al.   Cell Reports

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

(2017) Erik van der Wal et al.   Molecular Therapy-Nucleic Acids

Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease

(2017) Manuela Corti et al.   Human Gene Therapy Clinical Development

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease

(2017) Francesca Gatto et al.   Scientific Reports

TFEB and TFE3: Linking Lysosomes to Cellular Adaptation to Stress

(2016) Nina Raben et al.   Annual Review of Cell and Developmental Biology

The Lysosome as a Regulatory Hub

(2016) Rushika M. Perera et al.   Annual Review of Cell and Developmental Biology

Brain Disorders Due to Lysosomal Dysfunction

(2016) Alessandro Fraldi et al.   Annual Review of Neuroscience

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease

(2016) Sandra D.K. Kingma et al.   BONE

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases

(2016) Irene Sambri et al.   EMBO Molecular Medicine

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

(2016) Elfrida R. Benjamin et al.   GENETICS IN MEDICINE

Sialoadhesin promotes neuroinflammation-related disease progression in two mouse models of CLN disease

(2016) Janos Groh et al.   GLIA

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

Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance

(2016) Judith Blanz et al.   JOURNAL OF NEUROCHEMISTRY

Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease

(2016) Dae Song Jang et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Neuroimmune mechanisms in Krabbe's disease

(2016) Gregory B. Potter et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

(2016) Maria Sessa et al.   LANCET

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Transcriptome assessment of the Pompe (Gaa−/−) mouse spinal cord indicates widespread neuropathology

(2016) S. M. F. Turner et al.   PHYSIOLOGICAL GENOMICS

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs

(2016) Calogera M. Simonaro et al.   PLoS One

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

(2016) Thomas Kirkegaard et al.   Science Translational Medicine

Glial degeneration with oxidative damage drives neuronal demise in MPSII disease

(2016) Cristina Zalfa et al.   Cell Death & Disease

Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated with Cardiac and Skeletal Muscle Pathology

(2016) Yohei Sato et al.   Stem Cells Translational Medicine

Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling

(2016) Alessia Calcagnì et al.   eLife

Long-term treatment outcomes in Gaucher disease

(2015) Joel Charrow et al.   AMERICAN JOURNAL OF HEMATOLOGY

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of Medicine

Lysosomal Physiology

(2015) Haoxing Xu et al.   Annual Review of Physiology

Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease

(2015) Jeong-A Lim et al.   Autophagy

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

(2015) Giuseppina Di Fruscio et al.   Autophagy

Innovative Treatments for Lysosomal Diseases

(2015) Timothy M. Cox   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy

(2015) Bruna Donida et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

(2015) Carla Martins et al.   BRAIN

Organellar channels and transporters

(2015) Haoxing Xu et al.   CELL CALCIUM

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

(2015) Kathryn L. Berrier et al.   GENETICS IN MEDICINE

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

(2015) M. Praggastis et al.   JOURNAL OF NEUROSCIENCE

Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers

(2015) Michel Boutin et al.   JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY

Early markers of Fabry disease revealed by proteomics

(2015) V. Matafora et al.   Molecular BioSystems

Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses

(2015) Jeanine R. Jarnes Utz et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

FGF signalling regulates bone growth through autophagy

(2015) Laura Cinque et al.   NATURE

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

(2015) Diego L. Medina et al.   NATURE CELL BIOLOGY

Toward stem cell-based phenotypic screens for neurodegenerative diseases

(2015) Vikram Khurana et al.   Nature Reviews Neurology

Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes

(2015) Lena Wartosch et al.   TRAFFIC

Regulation of mTORC1 by PI3K signaling

(2015) Christian C. Dibble et al.   TRENDS IN CELL BIOLOGY

Focused metabolomics using liquid chromatography/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann–Pick disease type C and 3β-hydroxysteroid dehydrogenase deficiency

(2015) Masamitsu Maekawa et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Oxidative stress and autophagy: the clash between damage and metabolic needs

(2014) G Filomeni et al.   CELL DEATH AND DIFFERENTIATION

The Lysosomal v-ATPase-Ragulator Complex Is a Common Activator for AMPK and mTORC1, Acting as a Switch between Catabolism and Anabolism

(2014) Chen-Song Zhang et al.   Cell Metabolism

Seamless gene correction of β-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 andpiggyBac

(2014) Fei Xie et al.   GENOME RESEARCH

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.

(2014) K Wyatt et al.   HEALTH TECHNOLOGY ASSESSMENT

Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial

(2014) Marc Tardieu et al.   HUMAN GENE THERAPY

Lysosomal diseases: diagnostic update

(2014) Bryan Winchester   JOURNAL OF INHERITED METABOLIC DISEASE

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

(2014) Giancarlo Parenti et al.   MOLECULAR THERAPY

Inhibition of GM3 Synthase Attenuates Neuropathology of Niemann-Pick Disease Type C by Affecting Sphingolipid Metabolism

(2014) Hyun Lee et al.   MOLECULES AND CELLS

Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers

(2014) Eric C. Kauffman et al.   Nature Reviews Urology

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice

(2014) Ian M. Williams et al.   NEUROBIOLOGY OF DISEASE

The Nutrient-Responsive Transcription Factor TFE3 Promotes Autophagy, Lysosomal Biogenesis, and Clearance of Cellular Debris

(2014) J. A. Martina et al.   Science Signaling

RRAG GTPases link nutrient availability to gene expression, autophagy and lysosomal biogenesis

(2013) Jose A. Martina et al.   Autophagy

Functional Repair of CFTR by CRISPR/Cas9 in Intestinal Stem Cell Organoids of Cystic Fibrosis Patients

(2013) Gerald Schwank et al.   Cell Stem Cell

Correction of a Genetic Disease in Mouse via Use of CRISPR-Cas9

(2013) Yuxuan Wu et al.   Cell Stem Cell

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

(2013) Xenia Lojewski et al.   HUMAN MOLECULAR GENETICS

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

(2013) Martin Fan et al.   JOURNAL OF LIPID RESEARCH

An Extended Proteome Map of the Lysosomal Membrane Reveals Novel Potential Transporters

(2013) Agnès Chapel et al.   MOLECULAR & CELLULAR PROTEOMICS

Animal models for metabolic, neuromuscular and ophthalmological rare diseases

(2013) Guillaume Vaquer et al.   NATURE REVIEWS DRUG DISCOVERY

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

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

Gaucher Disease: Transcriptome Analyses Using Microarray or mRNA Sequencing in a Gba1 Mutant Mouse Model Treated with Velaglucerase alfa or Imiglucerase

(2013) Nupur Dasgupta et al.   PLoS One

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

(2012) Clarence K. Zhang et al.   AMERICAN JOURNAL OF HEMATOLOGY

The genotype-phenotype correlation in Pompe disease

(2012) Marian Kroos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Autophagy in astrocytes

(2012) Chiara Di Malta et al.   Autophagy

MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB

(2012) Jose A. Martina et al.   Autophagy

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

(2012) Carmine Settembre et al.   EMBO JOURNAL

Oxidative stress as a therapeutic target in globoid cell leukodystrophy

(2012) Jacqueline A. Hawkins-Salsbury et al.   EXPERIMENTAL NEUROLOGY

Treatment options for lysosomal storage disorders: developing insights

(2012) Carin M van Gelder et al.   EXPERT OPINION ON PHARMACOTHERAPY

Direct mobilisation of lysosomal Ca 2+ triggers complex Ca 2+ signals

(2012) Bethan S. Kilpatrick et al.   JOURNAL OF CELL SCIENCE

The role of saposin C in Gaucher disease

(2012) Rafael J. Tamargo et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine

(2012) Caterina Porto et al.   MOLECULAR THERAPY

The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease

(2012) Richie Khanna et al.   PLoS One

Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight

(2012) Stephanie M. Cologna et al.   PLoS One

The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis

(2012) A. Roczniak-Ferguson et al.   Science Signaling

Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases

(2011) Emyr Lloyd-Evans et al.   CELL CALCIUM

Neuroinflammatory and oxidative stress phenomena in MPS IIIA mouse model: The positive effect of long-term aspirin treatment

(2011) Audrey Arfi et al.   MOLECULAR GENETICS AND METABOLISM

Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy

(2011) Letícia Filippon et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

(2011) Tamar Shachar et al.   MOVEMENT DISORDERS

Novel Patient Cell-Based HTS Assay for Identification of Small Molecules for a Lysosomal Storage Disease

(2011) Haifeng Geng et al.   PLoS One

Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator

(2011) L. A. Clarke   RHEUMATOLOGY

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Storage problems in lysosomal diseases

(2010) Jean Michel Heard et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

(2010) Alessandro Fraldi et al.   EMBO JOURNAL

The proteome of lysosomes

(2010) Bernd A. Schröder et al.   PROTEOMICS

High content screening: seeing is believing

(2010) Fabian Zanella et al.   TRENDS IN BIOTECHNOLOGY

Mucopolysaccharidosis IIIB: Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis

(2009) Guglielmo R.D. Villani et al.   BRAIN RESEARCH

Neuropathology of the Mcoln1−/− Knockout Mouse Model of Mucolipidosis Type IV

(2009) Matthew C. Micsenyi et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

(2009) Caterina Porto et al.   MOLECULAR THERAPY

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

(2009) Richie Khanna et al.   MOLECULAR THERAPY

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

Involvement of the Toll-like receptor 4 pathway and use of TNF-  antagonists for treatment of the mucopolysaccharidoses

(2009) C. M. Simonaro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Proteomics of the lysosome

(2008) Torben Lübke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Secondary lipid accumulation in lysosomal disease

(2008) Steven U. Walkley et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification

(2008) C. Settembre et al.   GENES & DEVELOPMENT

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis

(2008) Sabrina Jabs et al.   JOURNAL OF NEUROCHEMISTRY

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

(2008) Z. Gan-Or et al.   NEUROLOGY

Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy

(2007) Vanessa Gonçalves Pereira et al.   CLINICA CHIMICA ACTA