Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
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Title
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Authors
Keywords
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Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 129, Issue 3, Pages 1240-1256
Publisher
American Society for Clinical Investigation
Online
2019-01-09
DOI
10.1172/jci123959
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Note: Only part of the references are listed.- Bi-allelic Mutations in EPRS , Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
- (2018) Marisa I. Mendes et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2018) Wolfgang Köhler et al. Nature Reviews Neurology
- Rare advances for rare diseases
- (2017) The Lancet Neurology LANCET NEUROLOGY
- Sphingolipids and their metabolism in physiology and disease
- (2017) Yusuf A. Hannun et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy
- (2017) Florian Eichler et al. NEW ENGLAND JOURNAL OF MEDICINE
- Acid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination
- (2017) Marwan Chami et al. PLoS One
- Sphingolipids: membrane microdomains in brain development, function and neurological diseases
- (2017) Anne S. B. Olsen et al. Open Biology
- De novo Synthesis of Sphingolipids Is Defective in Experimental Models of Huntington's Disease
- (2017) Alba Di Pardo et al. Frontiers in Neuroscience
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- (2016) Sonia Hernández-Tiedra et al. Autophagy
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- TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients
- (2016) Davide Tonduti et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
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- (2015) Sebastian Schmitt et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Dihydroceramide desaturase 1, the gatekeeper of ceramide induced lipotoxicity
- (2015) S. Rodriguez-Cuenca et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
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- (2015) C. O'Sullivan et al. JOURNAL OF CELL SCIENCE
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- (2015) Alfred N. Fonteh et al. PLoS One
- Fingolimod for the treatment of neurological diseases—state of play and future perspectives
- (2014) Robert Brunkhorst et al. Frontiers in Cellular Neuroscience
- Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy
- (2013) J. López-Erauskin et al. HUMAN MOLECULAR GENETICS
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- (2013) D. J. Montefusco et al. Science Signaling
- Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment
- (2013) Scott C. Baraban et al. Nature Communications
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- (2012) Mirco Brondolin et al. DEVELOPMENTAL DYNAMICS
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- Many Ceramides
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- (2010) Marjan E. Steenweg et al. BRAIN
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- The Role of the Ceramide Acyl Chain Length in Neurodegeneration: Involvement of Ceramide Synthases
- (2010) Oshrit Ben-David et al. NEUROMOLECULAR MEDICINE
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- (2009) Sujoy Lahiri et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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- (2007) Veronique E. Miron et al. ANNALS OF NEUROLOGY
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