Dysregulation of autophagy as a common mechanism in lysosomal storage diseases

Impaired mitophagy facilitates mitochondrial damage in Danon disease

(2017) Sherin I. Hashem et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Autophagosome Maturation and Fusion

(2017) Fulvio Reggiori et al.   JOURNAL OF MOLECULAR BIOLOGY

Gaucher disease: Progress and ongoing challenges

(2017) Pramod K. Mistry et al.   MOLECULAR GENETICS AND METABOLISM

Types A and B Niemann-Pick disease

(2017) Edward H. Schuchman et al.   MOLECULAR GENETICS AND METABOLISM

Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy

(2017) Iulia Munteanu et al.   NEUROMUSCULAR DISORDERS

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

(2017) M. Ripolone et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Autophagy dysregulation in Danon disease

(2017) Anna Chiara Nascimbeni et al.   Cell Death & Disease

mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases

(2017) Michela Palmieri et al.   Nature Communications

Sphingolipids: membrane microdomains in brain development, function and neurological diseases

(2017) Anne S. B. Olsen et al.   Open Biology

Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy

(2017) Henri Leinonen et al.   Scientific Reports

Transcription factor EB: from master coordinator of lysosomal pathways to candidate therapeutic target in degenerative storage diseases

(2016) Marco Sardiello   Annals of the New York Academy of Sciences

The Lysosome as a Regulatory Hub

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

Autophagy, lipophagy and lysosomal lipid storage disorders

(2016) Carl Ward et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Atg8 family LC3/GABARAP proteins are crucial for autophagosome–lysosome fusion but not autophagosome formation during PINK1/Parkin mitophagy and starvation

(2016) Thanh Ngoc Nguyen et al.   JOURNAL OF CELL BIOLOGY

TFEB at a glance

(2016) Gennaro Napolitano et al.   JOURNAL OF CELL SCIENCE

Niemann-Pick type C2 deficiency impairs autophagy-lysosomal activity, mitochondrial function, and TLR signaling in adipocytes

(2016) Hong Guo et al.   JOURNAL OF LIPID RESEARCH

A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin

(2016) Kerri J. Kinghorn et al.   JOURNAL OF NEUROSCIENCE

Autophagosome–lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL

(2016) Maria Giovanna De Leo et al.   NATURE CELL BIOLOGY

Skeletal muscle disorders of glycogenolysis and glycolysis

(2016) Richard Godfrey et al.   Nature Reviews Neurology

The ATG conjugation systems are important for degradation of the inner autophagosomal membrane

(2016) Kotaro Tsuboyama et al.   SCIENCE

Trehalose inhibits solute carrier 2A (SLC2A) proteins to induce autophagy and prevent hepatic steatosis

(2016) Brian J. DeBosch et al.   Science Signaling

SNARE-mediated membrane fusion in autophagy

(2016) Yongyao Wang et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

The Autophagy–Lysosomal Pathway in Neurodegeneration: A TFEB Perspective

(2016) Heidi Martini-Stoica et al.   TRENDS IN NEUROSCIENCES

Trehalose inhibits solute carrier 2A (SLC2A) proteins to induce autophagy and prevent hepatic steatosis

(2016) Brian J. DeBosch et al.   Science Signaling

TFEB overexpression promotes glycogen clearance of Pompe disease iPSC-derived skeletal muscle

(2016) Yohei Sato et al.   Molecular Therapy-Methods & Clinical Development

Autophagy mediates pharmacological lifespan extension by spermidineand resveratrol

(2016) Eugenia Morselli et al.   Aging-US

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

(2016) Barbara Canonico et al.   PLoS One

X-linked myopathy with excessive autophagy: a failure of self-eating

(2015) James J. Dowling et al.   ACTA NEUROPATHOLOGICA

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

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

(2015) Sara E. Mole et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Cell biology of the NCL proteins: What they do and don't do

(2015) Jaime Cárcel-Trullols et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7

(2015) Laura Brandenstein et al.   HUMAN MOLECULAR GENETICS

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells

(2015) Ola Awad et al.   HUMAN MOLECULAR GENETICS

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+Homeostasis, Autophagy, and CLN3 Protein Function

(2015) Uma Chandrachud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Development of autophagy inducers in clinical medicine

(2015) Beth Levine et al.   JOURNAL OF CLINICAL INVESTIGATION

Essential role for autophagy in life span extension

(2015) Frank Madeo et al.   JOURNAL OF CLINICAL INVESTIGATION

mTOR: a pharmacologic target for autophagy regulation

(2015) Young Chul Kim et al.   JOURNAL OF CLINICAL INVESTIGATION

PLEKHM1 Regulates Autophagosome-Lysosome Fusion through HOPS Complex and LC3/GABARAP Proteins

(2015) David G. McEwan et al.   MOLECULAR CELL

ATG14 promotes membrane tethering and fusion of autophagosomes to endolysosomes

(2015) Jiajie Diao et al.   NATURE

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

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

Small-molecule enhancers of autophagy modulate cellular disease phenotypes suggested by human genetics

(2015) Szu-Yu Kuo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Beclin orthologs: integrative hubs of cell signaling, membrane trafficking, and physiology

(2015) Beth Levine et al.   TRENDS IN CELL BIOLOGY

Gaucher Disease and Its Treatment Options

(2014) Lunawati L. Bennett et al.   ANNALS OF PHARMACOTHERAPY

Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease

(2014) Sovan Sarkar et al.   Autophagy

To Be or Not to Be? How Selective Autophagy and Cell Death Govern Cell Fate

(2014) Douglas R. Green et al.   CELL

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

(2014) A. Simonati et al.   CURRENT MOLECULAR MEDICINE

Autophagy and human disease: emerging themes

(2014) Jaime L Schneider et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

(2014) You-hai Xu et al.   HUMAN MOLECULAR GENETICS

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

Cargo recognition and trafficking in selective autophagy

(2014) Alexandra Stolz et al.   NATURE CELL BIOLOGY

Dynamic regulation of macroautophagy by distinctive ubiquitin-like proteins

(2014) Daniel J Klionsky et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The autophagic defect in Niemann–Pick disease type C neurons differs from somatic cells and reduces neuronal viability

(2014) Volker Meske et al.   NEUROBIOLOGY OF DISEASE

Pompe Disease

(2014) Majed Dasouki et al.   NEUROLOGIC CLINICS

CLN3 Deficient Cells Display Defects in the ARF1-Cdc42 Pathway and Actin-Dependent Events

(2014) Mark L. Schultz et al.   PLoS One

Pathological roles of the VEGF/SphK pathway in Niemann–Pick type C neurons

(2014) Hyun Lee et al.   Nature Communications

Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells

(2014) Dorothea Maetzel et al.   Stem Cell Reports

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

(2013) Nivetha Ramachandran et al.   ACTA NEUROPATHOLOGICA

Regulation of autophagy by mTOR-dependent and mTOR-independent pathways: autophagy dysfunction in neurodegenerative diseases and therapeutic application of autophagy enhancers

(2013) Sovan Sarkar   BIOCHEMICAL SOCIETY TRANSACTIONS

NCL disease mechanisms

(2013) David N. Palmer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease

(2013) Laura D. Osellame et al.   Cell Metabolism

Autophagy and human diseases

(2013) Peidu Jiang et al.   CELL RESEARCH

Activation of lysosomal function in the course of autophagy via mTORC1 suppression and autophagosome-lysosome fusion

(2013) Jing Zhou et al.   CELL RESEARCH

New insights in the field of muscle glycogenoses

(2013) Anders Oldfors et al.   CURRENT OPINION IN NEUROLOGY

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

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

Autophagosome maturation and lysosomal fusion

(2013) Ian G. Ganley   Essays in Biochemistry

Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration

(2013) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

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

Emerging regulation and functions of autophagy

(2013) Patricia Boya et al.   NATURE CELL BIOLOGY

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

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

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

Lysosomal storage diseases—the horizon expands

(2013) Rose-Mary Naaman Boustany   Nature Reviews Neurology

Alterations in ROS Activity and Lysosomal pH Account for Distinct Patterns of Macroautophagy in LINCL and JNCL Fibroblasts

(2013) José Manuel Vidal-Donet et al.   PLoS One

TFEB-mediated autophagy rescues midbrain dopamine neurons from  -synuclein toxicity

(2013) M. Decressac et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

(2013) Sovan Sarkar et al.   Cell Reports

Role of Autophagy in Glycogen Breakdown and Its Relevance to Chloroquine Myopathy

(2013) Jonathan Zirin et al.   PLOS BIOLOGY

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

The Hairpin-type Tail-Anchored SNARE Syntaxin 17 Targets to Autophagosomes for Fusion with Endosomes/Lysosomes

(2012) Eisuke Itakura et al.   CELL

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)

(2012) A C Nascimbeni et al.   CELL DEATH AND DIFFERENTIATION

Adverse events associated with mTOR inhibitors

(2012) Nicolas Pallet et al.   Expert Opinion On Drug Safety

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1

(2012) M. Paulina Ordonez et al.   HUMAN MOLECULAR GENETICS

Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts

(2012) M. Tatti et al.   HUMAN MOLECULAR GENETICS

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

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

The role of saposin C in Gaucher disease

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

Autophagy modulation as a potential therapeutic target for diverse diseases

(2012) David C. Rubinsztein et al.   NATURE REVIEWS DRUG DISCOVERY

Disruption of the Autophagy-Lysosome Pathway Is Involved in Neuropathology of the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis

(2012) Melanie Thelen et al.   PLoS One

Autophagy, mitochondria and oxidative stress: cross-talk and redox signalling

(2011) Jisun Lee et al.   BIOCHEMICAL JOURNAL

Autophagy in Lysosomal Myopathies

(2011) May Christine V. Malicdan et al.   BRAIN PATHOLOGY

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

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

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Aberrant Ca2+ handling in lysosomal storage disorders

(2010) Kirill Kiselyov et al.   CELL CALCIUM

Autophagy for tissue homeostasis and neuroprotection

(2010) Guillermo Mariño et al.   CURRENT OPINION IN CELL BIOLOGY

Protein misfolding disorders and macroautophagy

(2010) Fiona M Menzies et al.   CURRENT OPINION IN CELL BIOLOGY

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

(2010) Alessandro Fraldi et al.   EMBO JOURNAL

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

(2010) A. M. Vaccaro et al.   HUMAN MOLECULAR GENETICS

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

(2010) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Zinc Dyshomeostasis Is Linked with the Loss of Mucolipidosis IV-associated TRPML1 Ion Channel

(2010) Jonathan L. Eichelsdoerfer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Macroautophagy Is Not Directly Involved in the Metabolism of Amyloid Precursor Protein

(2010) Barry Boland et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lithium rescues the impaired autophagy process in CbCln3Δex7/8/Δex7/8 cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition

(2010) Jae-Woong Chang et al.   JOURNAL OF NEUROCHEMISTRY

Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease

(2010) Karen M. Ashe et al.   MOLECULAR GENETICS AND METABOLISM

Velaglucerase alfa

(2010) Johannes M. F. G. Aerts et al.   NATURE REVIEWS DRUG DISCOVERY

Mechanisms of mitophagy

(2010) Richard J. Youle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Macroautophagy is defective in mucolipin-1-deficient mouse neurons

(2010) Cyntia Curcio-Morelli et al.   NEUROBIOLOGY OF DISEASE

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Regulation of Mammalian Autophagy in Physiology and Pathophysiology

(2010) Brinda Ravikumar et al.   PHYSIOLOGICAL REVIEWS

Regulation Mechanisms and Signaling Pathways of Autophagy

(2009) Congcong He et al.   Annual Review of Genetics

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

(2009) Natalia Cannelli et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Niemann–Pick C2 (NPC2) and intracellular cholesterol trafficking

(2009) Judith Storch et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Recommendations for treating patients with Gaucher disease with emerging enzyme products

(2009) Timothy M. Cox   BLOOD CELLS MOLECULES AND DISEASES

An ATP-competitive Mammalian Target of Rapamycin Inhibitor Reveals Rapamycin-resistant Functions of mTORC1

(2009) Carson C. Thoreen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chaperone-mediated autophagy is defective in mucolipidosis type IV

(2009) Bhuvarahamurthy Venugopal et al.   JOURNAL OF CELLULAR PHYSIOLOGY

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

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

Autophagy regulates lipid metabolism

(2009) Rajat Singh et al.   NATURE

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

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

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Motor Deficit in a Drosophila Model of Mucolipidosis Type IV due to Defective Clearance of Apoptotic Cells

(2008) Kartik Venkatachalam et al.   CELL

Autophagy in the Pathogenesis of Disease

(2008) Beth Levine et al.   CELL

Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies

(2008) S Sarkar et al.   CELL DEATH AND DIFFERENTIATION

Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

(2008) N. Raben et al.   HUMAN MOLECULAR GENETICS

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION

Membrane traffic and turnover in TRP-ML1–deficient cells: a revised model for mucolipidosis type IV pathogenesis

(2008) Mark T. Miedel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The Chaperone-Mediated Autophagy Receptor Organizes in Dynamic Protein Complexes at the Lysosomal Membrane

(2008) U. Bandyopadhyay et al.   MOLECULAR AND CELLULAR BIOLOGY

The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

(2008) Xian-Ping Dong et al.   NATURE

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE

Novel targets for Huntington's disease in an mTOR-independent autophagy pathway

(2008) Andrea Williams et al.   Nature Chemical Biology

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

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