- Home
- Publications
- Publication Search
- Publication Details
Title
Sphingolipid lysosomal storage disorders
Authors
Keywords
-
Journal
NATURE
Volume 510, Issue 7503, Pages 68-75
Publisher
Springer Nature
Online
2014-06-03
DOI
10.1038/nature13476
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- RIPK3 as a potential therapeutic target for Gaucher's disease
- (2014) Einat B Vitner et al. NATURE MEDICINE
- Necroptosis
- (2014) Andreas Linkermann et al. NEW ENGLAND JOURNAL OF MEDICINE
- Stuck in traffic: an emerging theme in diseases of the nervous system
- (2014) Jacques Neefjes et al. TRENDS IN NEUROSCIENCES
- Competing for the treasure in exceptions
- (2013) Timothy M. Cox AMERICAN JOURNAL OF HEMATOLOGY
- Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
- (2013) Amir Boukhris et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ceramide synthases as potential targets for therapeutic intervention in human diseases
- (2013) Joo-Won Park et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
- (2013) Gaurav V. Harlalka et al. BRAIN
- Miglustat: A Review of Its Use in Niemann-Pick Disease Type C
- (2013) Katherine A. Lyseng-Williamson DRUGS
- Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood–brain barrier permeability
- (2013) Charles C. Pontikis et al. JOURNAL OF INHERITED METABOLIC DISEASE
- ZKSCAN3 Is a Master Transcriptional Repressor of Autophagy
- (2013) Santosh Chauhan et al. MOLECULAR CELL
- Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy
- (2013) Allison M Bradbury et al. MOLECULAR THERAPY
- Lysosomal impairment in Parkinson's disease
- (2013) Benjamin Dehay et al. MOVEMENT DISORDERS
- The role of autophagy in neurodegenerative disease
- (2013) Ralph A Nixon NATURE MEDICINE
- Niemann-Pick disease type C symptomatology: an expert-based clinical description
- (2013) Eugen Mengel et al. Orphanet Journal of Rare Diseases
- Cost-effectiveness of enzyme replacement therapy for Fabry disease
- (2013) Saskia M Rombach et al. Orphanet Journal of Rare Diseases
- Autophagy and apoptosis dysfunction in neurodegenerative disorders
- (2013) Saeid Ghavami et al. PROGRESS IN NEUROBIOLOGY
- Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy
- (2012) A. Bersano et al. ACTA NEUROLOGICA SCANDINAVICA
- Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases
- (2012) Rosella Tomanin et al. ACTA PAEDIATRICA
- The case for intrauterine gene therapy
- (2012) Citra N. Mattar et al. BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
- Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
- (2012) Frances M. Platt et al. JOURNAL OF CELL BIOLOGY
- Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
- (2012) Y. H. Chien et al. JOURNAL OF INHERITED METABOLIC DISEASE
- 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
- Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
- (2012) Marc C. Patterson et al. MOLECULAR GENETICS AND METABOLISM
- Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
- (2012) Mark Walterfang et al. Orphanet Journal of Rare Diseases
- Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
- (2012) Nadine AME van der Beek et al. Orphanet Journal of Rare Diseases
- From Serendipity to Therapy
- (2011) Elizabeth F. Neufeld Annual Review of Biochemistry
- Lysosomal enhancement: A CLEAR answer to cellular degradative needs
- (2011) Marco Sardiello et al. CELL CYCLE
- Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance
- (2011) Diego L. Medina et al. DEVELOPMENTAL CELL
- Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system
- (2011) Ahad A. Rahim et al. FASEB JOURNAL
- Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways
- (2011) Michela Palmieri et al. HUMAN MOLECULAR GENETICS
- Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond
- (2011) Tamar Shachar et al. MOVEMENT DISORDERS
- Catalytic activity of the caspase-8–FLIPL complex inhibits RIPK3-dependent necrosis
- (2011) Andrew Oberst et al. NATURE
- Clarifying lysosomal storage diseases
- (2011) Mark L. Schultz et al. TRENDS IN NEUROSCIENCES
- HSP70 and lysosomal storage disorders: novel therapeutic opportunities
- (2010) Nikolaj H.T. Petersen et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Necroptosis as an alternative form of programmed cell death
- (2010) Dana E Christofferson et al. CURRENT OPINION IN CELL BIOLOGY
- Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases
- (2010) Einat B. Vitner et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders
- (2010) Kim M. Hemsley et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches
- (2010) Anton I. Rosenbaum et al. JOURNAL OF NEUROCHEMISTRY
- Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes
- (2010) N Matthew Ellinwood et al. MOLECULAR THERAPY
- Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology
- (2010) Thomas Kirkegaard et al. NATURE
- Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
- (2010) Kevin D Foust et al. NATURE BIOTECHNOLOGY
- Niemann-Pick disease type C
- (2010) Marie T Vanier Orphanet Journal of Rare Diseases
- Weekly Cyclodextrin Administration Normalizes Cholesterol Metabolism in Nearly Every Organ of the Niemann-Pick Type C1 Mouse and Markedly Prolongs Life
- (2010) Charina M Ramirez et al. PEDIATRIC RESEARCH
- Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis
- (2010) Fannie W. Chen et al. PLoS One
- Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease
- (2010) Emyr Lloyd-Evans et al. TRAFFIC
- Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid
- (2009) Benny Liu et al. JOURNAL OF LIPID RESEARCH
- 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
- Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1
- (2009) David Smith et al. NEUROBIOLOGY OF DISEASE
- Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
- (2009) E. Sidransky et al. NEW ENGLAND JOURNAL OF MEDICINE
- 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
- Substrate reduction therapy
- (2008) Frances M Platt et al. ACTA PAEDIATRICA
- Spontaneous appearance of Tay–Sachs disease in an animal model
- (2008) B.J. Zeng et al. MOLECULAR GENETICS AND METABOLISM
- Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
- (2008) Emyr Lloyd-Evans et al. NATURE MEDICINE
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started