Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

Neurodegenerative lysosomal disorders: A continuum from development to late age

(2014) Ralph A. Nixon et al.   Autophagy

Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases

(2012) Rosella Tomanin et al.   ACTA PAEDIATRICA

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

Drosophila TRPML Is Required for TORC1 Activation

(2012) Ching-On Wong et al.   CURRENT BIOLOGY

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

From Serendipity to Therapy

(2011) Elizabeth F. Neufeld   Annual Review of Biochemistry

Molecular mechanisms of endolysosomal Ca2+signalling in health and disease

(2011) Anthony J. Morgan et al.   BIOCHEMICAL JOURNAL

Autophagy in the Cellular Energetic Balance

(2011) Rajat Singh et al.   Cell Metabolism

Enzyme Replacement Therapy for Pompe Disease

(2011) Corrado Angelini et al.   Current Neurology and Neuroscience Reports

Lipid transfer and signaling at organelle contact sites: the tip of the iceberg

(2011) Alexandre Toulmay et al.   CURRENT OPINION IN CELL BIOLOGY

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

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

Microautophagy of Cytosolic Proteins by Late Endosomes

(2011) Ranjit Sahu et al.   DEVELOPMENTAL CELL

Regulation of TFEB and V-ATPases by mTORC1

(2011) Samuel Peña-Llopis et al.   EMBO JOURNAL

Gene therapy for lysosomal storage disorders

(2011) Angela Gritti   EXPERT OPINION ON BIOLOGICAL THERAPY

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

(2011) Michela Palmieri et al.   HUMAN MOLECULAR GENETICS

Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease

(2011) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

Unesterified Cholesterol Accumulation in Late Endosomes/Lysosomes Causes Neurodegeneration and Is Prevented by Driving Cholesterol Export from This Compartment

(2011) A. Aqul et al.   JOURNAL OF NEUROSCIENCE

The cellular pathology of lysosomal diseases

(2011) Timothy M Cox et al.   JOURNAL OF PATHOLOGY

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann–Pick type C1 mice

(2011) Sarah N.R. Pressey et al.   NEUROBIOLOGY OF DISEASE

Secondary Alterations of Sphingolipid Metabolism in Lysosomal Storage Diseases

(2011) Alessandro Prinetti et al.   NEUROCHEMICAL RESEARCH

mTORC1 Senses Lysosomal Amino Acids Through an Inside-Out Mechanism That Requires the Vacuolar H+-ATPase

(2011) R. Zoncu et al.   SCIENCE

Mitochondria and the Autophagy-Inflammation-Cell Death Axis in Organismal Aging

(2011) D. R. Green et al.   SCIENCE

Storage Vesicles in Neurons Are Related to Golgi Complex Alterations in Mucopolysaccharidosis IIIB

(2010) Sandrine Vitry et al.   AMERICAN JOURNAL OF PATHOLOGY

Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations

(2010) Ju-Hyun Lee et al.   CELL

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

(2010) Alessandro Fraldi et al.   EMBO JOURNAL

Benefits from Unearthing “a Biochemical Rosetta Stone”

(2010) Roscoe O. Brady   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Secondary Storage of Dermatan Sulfate in Sanfilippo Disease

(2010) William C. Lamanna 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

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

α-Synuclein impairs macroautophagy: implications for Parkinson’s disease

(2010) Ashley R. Winslow et al.   JOURNAL OF CELL BIOLOGY

Pathophysiology of neuropathic lysosomal storage disorders

(2010) Cinzia Maria Bellettato et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Termination of autophagy and reformation of lysosomes regulated by mTOR

(2010) Li Yu et al.   NATURE

Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology

(2010) Thomas Kirkegaard et al.   NATURE

A role for mitochondria in NLRP3 inflammasome activation

(2010) Rongbin Zhou et al.   NATURE

Autophagy proteins regulate innate immune responses by inhibiting the release of mitochondrial DNA mediated by the NALP3 inflammasome

(2010) Kiichi Nakahira et al.   NATURE IMMUNOLOGY

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

2-Hydroxypropyl-β-Cyclodextrin Raises Hearing Threshold in Normal Cats and in Cats With Niemann-Pick Type C Disease

(2010) Sarah Ward et al.   PEDIATRIC RESEARCH

Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis

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

Cholesterol trafficking is required for mTOR activation in endothelial cells

(2010) J. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The proteome of lysosomes

(2010) Bernd A. Schröder et al.   PROTEOMICS

Autophagy, a guardian against neurodegeneration

(2010) Moisés García-Arencibia et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Physiological role of autophagy as an intracellular recycling system: With an emphasis on nutrient metabolism

(2010) Akiko Kuma et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Bone Marrow-Derived Mesenchymal Stem Cells Prevent the Loss of Niemann-Pick Type C Mouse Purkinje Neurons by Correcting Sphingolipid Metabolism and Increasing Sphingosine-1-phosphate

(2010) Hyun Lee et al.   STEM CELLS

Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

Mitochondrial Turnover and Aging of Long-Lived Postmitotic Cells: The Mitochondrial–Lysosomal Axis Theory of Aging

(2009) Alexei Terman et al.   ANTIOXIDANTS & REDOX SIGNALING

The epidemiology of progressive intellectual and neurological deterioration in childhood

(2009) C. Verity et al.   ARCHIVES OF DISEASE IN CHILDHOOD

The values and limits of an in vitro model of Pompe disease: The best laid schemes o’ mice an’ men ……..†

(2009) Shoichi Takikita et al.   Autophagy

Exosomes – vesicular carriers for intercellular communication

(2009) Mikael Simons et al.   CURRENT OPINION IN CELL BIOLOGY

Membrane trafficking events that partake in autophagy

(2009) Andrea Orsi et al.   CURRENT OPINION IN CELL BIOLOGY

Involvement of Acid β-Glucosidase 1 in the Salvage Pathway of Ceramide Formation

(2009) Kazuyuki Kitatani et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Niemann-Pick C1 Functions Independently of Niemann-Pick C2 in the Initial Stage of Retrograde Transport of Membrane-impermeable Lysosomal Cargo

(2009) Stephen D. B. Goldman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chaperone-mediated autophagy is defective in mucolipidosis type IV

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

GM1-Ganglioside Accumulation at the Mitochondria-Associated ER Membranes Links ER Stress to Ca2+-Dependent Mitochondrial Apoptosis

(2009) Renata Sano et al.   MOLECULAR CELL

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

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

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

A fluorescence resonance energy transfer-based approach for investigating late endosome–lysosome retrograde fusion events

(2008) A.M. Kaufmann et al.   ANALYTICAL BIOCHEMISTRY

Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

(2008) Ayumi Takamura et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Autophagy: A lysosomal degradation pathway with a central role in health and disease

(2008) Eeva-Liisa Eskelinen 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

Autophagy and multivesicular bodies: two closely related partners

(2008) C M Fader et al.   CELL DEATH AND DIFFERENTIATION

The sphingolipid salvage pathway in ceramide metabolism and signaling

(2008) Kazuyuki Kitatani et al.   CELLULAR SIGNALLING

Enzyme replacement therapy for Gaucher disease

(2008) Joel Charrow   EXPERT OPINION ON BIOLOGICAL THERAPY

Late-onset Tay-Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients

(2008) Barbara E. Shapiro et al.   MUSCLE & NERVE

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

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

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE

The Itinerary of Autophagosomes: From Peripheral Formation to Kiss-and-Run Fusion with Lysosomes

(2008) Luca Jahreiss et al.   TRAFFIC

Partial Restoration of Mutant Enzyme Homeostasis in Three Distinct Lysosomal Storage Disease Cell Lines by Altering Calcium Homeostasis

(2008) Ting-Wei Mu et al.   PLOS BIOLOGY

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

(2007) Jian-Qiang Fan   BIOLOGICAL CHEMISTRY