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

Targeting protein homeostasis in sporadic inclusion body myositis

(2016) Mhoriam Ahmed et al.   Science Translational Medicine

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of 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

Anti-cancer agent siramesine is a lysosomotropic detergent that induces cytoprotective autophagosome accumulation

(2014) Marie Stampe Ostenfeld et al.   Autophagy

Human heat shock protein 70 (Hsp70) as a peripheral membrane protein

(2014) Ajay K. Mahalka et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations

(2014) Judit Macías-Vidal et al.   FEBS Journal

Endoplasmic Reticulum-associated Degradation of Niemann-Pick C1

(2014) Naoe Nakasone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Heat Shock Protein 70.1 (Hsp70.1) Affects Neuronal Cell Fate by Regulating Lysosomal Acid Sphingomyelinase

(2014) Hong Zhu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

(2014) Danielle te Vruchte et al.   JOURNAL OF CLINICAL INVESTIGATION

Lysosomal storage diseases and the heat shock response: convergences and therapeutic opportunities

(2014) Linda Ingemann et al.   JOURNAL OF LIPID RESEARCH

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa

(2014) D A Parfitt et al.   Cell Death & Disease

Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy

(2013) Bilal Malik et al.   BRAIN

Transformation-Associated Changes in Sphingolipid Metabolism Sensitize Cells to Lysosomal Cell Death Induced by Inhibitors of Acid Sphingomyelinase

(2013) Nikolaj H.T. Petersen et al.   CANCER CELL

Lysosomal Membrane Permeability Stimulates Protein Aggregate Formation in Neurons of a Lysosomal Disease

(2013) M. C. Micsenyi et al.   JOURNAL OF NEUROSCIENCE

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

Animal models for metabolic, neuromuscular and ophthalmological rare diseases

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

Niemann-Pick disease type C symptomatology: an expert-based clinical description

(2013) Eugen Mengel et al.   Orphanet Journal of Rare Diseases

The role of heat shock proteins in Amyotrophic Lateral Sclerosis: The therapeutic potential of Arimoclomol

(2013) Bernadett Kalmar et al.   PHARMACOLOGY & THERAPEUTICS

Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones

(2013) C. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones

(2013) C. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Npc1 Acting in Neurons and Glia Is Essential for the Formation and Maintenance of CNS Myelin

(2013) Ting Yu et al.   PLoS Genetics

Emerging therapies and therapeutic concepts for lysosomal storage diseases

(2013) Thomas Kirkegaard   Expert Opinion on Orphan Drugs

Hydroximic Acid Derivatives: Pleiotropic Hsp Co-Inducers Restoring Homeostasis and Robustness

(2012) Tim Crul et al.   CURRENT PHARMACEUTICAL DESIGN

Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C

(2012) M. Walterfang et al.   EUROPEAN JOURNAL OF NEUROLOGY

Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C

(2012) Veronika M. Stein et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis

(2012) Erin M. O'Leary et al.   MOLECULAR GENETICS AND METABOLISM

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann–Pick C mice

(2012) Jennifer B. Nietupski et al.   MOLECULAR GENETICS AND METABOLISM

Hsp72 preserves muscle function and slows progression of severe muscular dystrophy

(2012) Stefan M. Gehrig et al.   NATURE

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

(2011) M. Walterfang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Regulation of HSF1 Function in the Heat Stress Response: Implications in Aging and Disease

(2011) Julius Anckar et al.   Annual Review of Biochemistry

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

(2011) Johannes M. F. G. Aerts et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse

(2011) Xin Yan et al.   METABOLIC BRAIN DISEASE

Heat shock transcription factor 1 as a therapeutic target in neurodegenerative diseases

(2011) Daniel W. Neef et al.   NATURE REVIEWS DRUG DISCOVERY

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

(2011) N. H. Pipalia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

HSP70 and lysosomal storage disorders: novel therapeutic opportunities

(2010) Nikolaj H.T. Petersen et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Multi-system disorders of glycosphingolipid and ganglioside metabolism

(2010) You-Hai Xu et al.   JOURNAL OF LIPID RESEARCH

Protein Quality Control in the Cytosol and the Endoplasmic Reticulum: Brothers in Arms

(2010) Alexander Buchberger et al.   MOLECULAR CELL

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

(2010) Thomas Kirkegaard et al.   NATURE

White and gray matter alterations in adults with Niemann-Pick disease type C: A cross-sectional study

(2010) M. Walterfang et al.   NEUROLOGY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

Improvement in Lipid and Protein Trafficking in Niemann-Pick C1 Cells by Correction of a Secondary Enzyme Defect

(2010) Cecilia Devlin et al.   TRAFFIC

Arimoclomol: a potential therapy under development for ALS

(2009) Veena Lanka et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Brain gangliosides in axon-myelin stability and axon regeneration

(2009) Ronald L. Schnaar   FEBS LETTERS

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

(2009) Renata Sano et al.   MOLECULAR CELL

Approaches to transport therapeutic drugs across the blood–brain barrier to treat brain diseases

(2009) Reinhard Gabathuler   NEUROBIOLOGY OF DISEASE

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

Lysosomal involvement in cell death and cancer

(2008) Thomas Kirkegaard 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

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Proteotoxic stress and inducible chaperone networks in neurodegenerative disease and aging

(2008) R. I. Morimoto   GENES & DEVELOPMENT

Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

(2008) Mark E. Gelsthorpe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysobisphosphatidic Acid Controls Endosomal Cholesterol Levels

(2008) Julien Chevallier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The role of glycosphingolipid metabolism in the developing brain

(2008) Robert K. Yu et al.   JOURNAL OF LIPID RESEARCH

Late stage treatment with arimoclomol delays disease progression and prevents protein aggregation in the SOD1G93A mouse model of ALS

(2008) Bernadett Kalmar et al.   JOURNAL OF NEUROCHEMISTRY

Involvement of the low-density lipoprotein receptor-related protein in the transcytosis of the brain delivery vector Angiopep-2

(2008) Michel Demeule et al.   JOURNAL OF NEUROCHEMISTRY

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

(2008) Elena Elliot-Smith et al.   MOLECULAR GENETICS AND METABOLISM

Arimoclomol at dosages up to 300 mg/day is well tolerated and safe in amyotrophic lateral sclerosis

(2008) Merit E. Cudkowicz 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