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The Role of Sphingomyelin and Ceramide in Motor Neuron Diseases

JOURNAL OF PERSONALIZED MEDICINE (2022)

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Article Clinical Neurology

Metabolomics identifies shared lipid pathways in independent amyotrophic lateral sclerosis cohorts

Stephen A. Goutman et al.

Summary: By performing untargeted metabolomics in two independent ALS cohorts, this study identifies recurring pathways that are altered in both cohorts. Many of the pathways are involved in lipid metabolism, including beta-oxidation intermediates and complex and signalling lipids, such as sphingolipids and diacylglycerols.

BRAIN (2022)

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Article Clinical Neurology

Epidemiology and survival trends of motor neurone disease in Northern Ireland from 2015 to 2019

Gavin McCluskey et al.

Summary: The study evaluated the incidence, prevalence, and survival trends of motor neurone disease (MND) in Northern Ireland from 2015 to 2019. The incidence and prevalence rates of MND have increased over the past 10 years, in line with trends in other European countries. Improved survival was associated with younger age at onset, longer time to diagnosis, attendance at a regional MND clinic, and outpatient presentation to a Neurology Department.

EUROPEAN JOURNAL OF NEUROLOGY (2022)

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Article Cell Biology

Neutral sphingomyelinase 2 controls exosome secretion by counteracting V-ATPase-mediated endosome acidification

Dolma Choezom et al.

Summary: nSMase2 activity controls sEV secretion by modulating V-ATPase activity. Inhibition of nSMase2 leads to acidification of MVB lumen and reduces sEV secretion, while stimulation of nSMase2 activity decreases acidification and increases sEV secretion.

JOURNAL OF CELL SCIENCE (2022)

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Article Cell Biology

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Paul J. Hop et al.

Summary: This study conducted a blood-based epigenome-wide association study meta-analysis and identified differentially methylated positions (DMPs) and genes associated with ALS. The study also found independent associations between ALS and high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake, with cholesterol biosynthesis potentially causally related to ALS. Additionally, DNA methylation at several DMPs and blood cell proportion estimates were associated with survival rate in patients.

SCIENCE TRANSLATIONAL MEDICINE (2022)

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Review Pharmacology & Pharmacy

Molecular Pharmacology and Novel Potential Therapeutic Applications of Fingolimod

Safura Pournajaf et al.

Summary: Fingolimod is an effective therapy for disease progression, reducing T-cell numbers, suppressing inflammation, and potentially treating various pathological conditions. It modulates multiple molecular pathways and has shown potential therapeutic effects in immunomodulatory diseases, CNS injuries, Alzheimer's disease, Parkinson's disease, epilepsy, and cancer.

FRONTIERS IN PHARMACOLOGY (2022)

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Article Multidisciplinary Sciences

Inhibition of sphingolipid de novo synthesis counteracts muscular dystrophy

Pirkka-Pekka Laurila et al.

Summary: Inhibition of sphingolipid synthesis, targeting multiple pathogenic pathways, shows promise as a potential treatment for muscular dystrophies.

SCIENCE ADVANCES (2022)

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Review Clinical Neurology

Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials

Giorgia Querin et al.

Summary: Biomarkers for C9orf72-ALS include neuropsychology tests, imaging, electrophysiology, and circulating biomarkers. These biomarkers can track the progression of neurodegeneration and be used as outcome measures in clinical trials.

JOURNAL OF NEUROMUSCULAR DISEASES (2022)

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Article Public, Environmental & Occupational Health

Statin Medications and Amyotrophic Lateral Sclerosis Incidence and Mortality

Marc G. Weisskopf et al.

Summary: Studies show that statin use may have a protective effect on ALS survival, especially for those using lower-potency statins. However, the duration of statin use may affect these findings.

AMERICAN JOURNAL OF EPIDEMIOLOGY (2022)

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Article Clinical Neurology

Higher blood high density lipoprotein and apolipoprotein A1 levels are associated with reduced risk of developing amyotrophic lateral sclerosis

Alexander G. Thompson et al.

Summary: The study examined the relationship between metabolic parameters and the risk of ALS, revealing that HDL and apoA1 levels are associated with a reduced risk, while total cholesterol:HDL ratio is linked to an increased risk. Models incorporating multiple metabolic markers showed that high levels of LDL or apoB are associated with an increased risk, while higher levels of HDL or apoA are associated with a lower risk. Additionally, coronary artery disease, cerebrovascular disease, and increasing age were also found to be associated with an increased risk of ALS.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2022)

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Review Biochemistry & Molecular Biology

Sphingolipid Players in Multiple Sclerosis: Their Influence on the Initiation and Course of the Disease

Maria Podbielska et al.

Summary: This review summarizes the significant role of sphingolipids (SLs) in central nervous system diseases, particularly multiple sclerosis (MS). It highlights the alterations of SL profile in MS, the involvement of SLs in autoimmune response, and the potential diagnostic and therapeutic implications of SLs in MS.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

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Review Clinical Neurology

Medications on hypertension, hyperlipidemia, diabetes, and risk of amyotrophic lateral sclerosis: a systematic review and meta-analysis

Nan Hu et al.

Summary: Regular use of anti-hypertensive drugs and anti-diabetes medications, including ACEIs, beta-blockers, CCBs, diuretics, metformin, and sulfonylureas, may protect against the risk of ALS, while there is no significant association between anti-hyperlipidemia drug use and the risk of ALS. Regular medications for hypertension, hyperlipidemia, and diabetes should be recommended regardless of the diagnosis of ALS.

NEUROLOGICAL SCIENCES (2022)

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Article Clinical Neurology

Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study

Michael Benatar et al.

Summary: Despite limited knowledge of the underlying causes, genetic forms of ALS offer a unique opportunity for therapeutic development. The ATLAS study, the first interventional trial in presymptomatic ALS, aims to evaluate the impact of initiating tofersen in presymptomatic carriers of SOD1 variants associated with rapid disease progression. The study has the potential to provide important insights into presymptomatic trials, identification of at-risk individuals, and future treatment paradigms in ALS.

NEUROTHERAPEUTICS (2022)

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Review Clinical Neurology

Antisense Oligonucleotides for the Study and Treatment of ALS

Benjamin D. Boros et al.

Summary: This review discusses the current state of ASO therapies for ALS, outlining their successes from preclinical development to early clinical trials.

NEUROTHERAPEUTICS (2022)

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Article Geriatrics & Gerontology

Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles

Laura Le Gall et al.

Summary: Muscle vesicles may be a potential source of vesicle-mediated toxicity in ALS, as they are shown to be toxic to MNs.

JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE (2022)

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Article Genetics & Heredity

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

Heike Koelbel et al.

Summary: Through proteomic analysis of a patient's cells, we identified dysregulated proteins associated with neuronal homeostasis and symptom manifestation. This finding may provide an explanation for the link between SPTLC1 variants and neuropathy and ALS, as well as additional symptoms.

GENES (2022)

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Article Cell Biology

The Neurotoxicity of Vesicles Secreted by ALS Patient Myotubes Is Specific to Exosome-Like and Not Larger Subtypes

Ekene Anakor et al.

Summary: Extracellular vesicles play a crucial role in intercellular communication and their study in Amyotrophic Lateral Sclerosis (ALS) is important. The smaller exosome-like vesicles from ALS patients have negative effects on motor neurons, astrocytes, and myotubes, while vesicles from healthy subjects or larger vesicles from ALS or healthy subjects do not exhibit such effects.

CELLS (2022)

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Article Pharmacology & Pharmacy

Inhibition of neutral sphingomyelinase 2 reduces extracellular vesicle release from neurons, oligodendrocytes, and activated microglial cells following acute brain injury

Carolyn Tallon et al.

Summary: A new nSMase2 inhibitor, PDDC, was found to reduce EV release and normalize IL-1 beta-induced EV increase after acute brain injury. This suggests that nSMase2 inhibition may be an effective therapeutic target for acute brain injury.

BIOCHEMICAL PHARMACOLOGY (2021)

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Article Clinical Neurology

Hypermetabolism is a reality in amyotrophic lateral sclerosis compared to healthy subjects

Philippe Fayemendy et al.

Summary: The study confirmed the presence of hypermetabolism (HM) in ALS patients, with more than half of the patients affected by HM. HM was strongly and positively associated with ALS, indicating a frequent metabolic deterioration during the disease. Identifying HM can facilitate better adaptation of patients' nutritional intake.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2021)

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Review Biochemistry & Molecular Biology

Membrane lipid raft homeostasis is directly linked to neurodegeneration

Tobias Moll et al.

Summary: Neurodegenerative diseases like ALS, PD, and AD are associated with dysregulation of MLRs, leading to neuronal death. SMase and PL enzymes play central roles in MLR homeostasis and neurotrophic signalling, showing potential as therapeutic targets.

MOLECULAR MECHANISMS OF NEURODEGENERATION (2021)

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Article Genetics & Heredity

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

Afshin Saffari et al.

Summary: The study explores the potential value of using H-1 nuclear magnetic resonance metabolomic profiling as diagnostic and prognostic biomarkers in spinal muscular atrophy (SMA). Results demonstrate that urinary fingerprints can be used to differentiate SMA patients from healthy controls and predict the severity of SMA types.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Biophysics

Determination of the size of lipid rafts studied through single-molecule FRET simulations

Pablo Luis Hernandez-Adame et al.

Summary: The study developed a computational single-molecule FRET method to investigate the dynamics of fluorophores inside lipid rafts, showing that the method is robust and insensitive to variations in different parameters.

BIOPHYSICAL JOURNAL (2021)

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Article Medicine, General & Internal

Predictors of survival in patients with amyotrophic lateral sclerosis: A large meta-analysis

Wei-Ming Su et al.

Summary: This study conducted a comprehensive meta-analysis on non-genetic prognostic and survival factors in ALS patients, identifying several prediction factors associated with ALS survival. These findings will aid in the development of treatment strategies for ALS.

EBIOMEDICINE (2021)

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Review Cell Biology

Exosomes in Ageing and Motor Neurone Disease: Biogenesis, Uptake Mechanisms, Modifications in Disease and Uses in the Development of Biomarkers and Therapeutics

Ekene Anakor et al.

Summary: Intercellular communication between neurons and their surrounding cells occurs through secretion of soluble molecules or release of vesicles like exosomes, which play a role in maintaining brain homeostasis. Exosomes are suspected to spread toxic proteins in neurodegenerative conditions associated with aging. This review focuses on the role of exosomes in aging and specifically in ALS, highlighting their potential use as biomarkers and therapeutics for the disease.

CELLS (2021)

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Article Biochemistry & Molecular Biology

Altered Metabolic Profiles of the Plasma of Patients with Amyotrophic Lateral Sclerosis

Kuo-Hsuan Chang et al.

Summary: This study identified a panel of metabolites correlated with disease severity in ALS, some of which show potential as biomarkers for monitoring disease progression and therapeutic effects. Machine learning algorithms using selected metabolites achieved good performance in distinguishing ALS patients from normal controls.

BIOMEDICINES (2021)

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Article Neurosciences

Krabbe disease: New hope for an old disease

Allison M. Bradbury et al.

Summary: Krabbe disease is a lysosomal storage disease characterized by demyelination, most commonly in its infantile form. It is caused by a deficiency of the acid hydrolase galactosylceramidase (GALC). Hematopoietic stem cell transplantation can slow the progression of the disease, but more effective treatments are still needed to combat this devastating condition.

NEUROSCIENCE LETTERS (2021)

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Review Cell Biology

Sphingolipids metabolism alteration in the central nervous system: Amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases

Alexandra Bouscary et al.

Summary: Sphingolipids play crucial roles in the development and maintenance of the nervous system, with dysregulated metabolism being linked to specific neurodegenerative diseases. Current research primarily focuses on ALS, seeking potential treatments that target sphingolipid metabolism in neurodegenerative diseases.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2021)

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Article Neurosciences

Pharmacological inhibition of nSMase2 reduces brain exosome release and α-synuclein pathology in a Parkinson's disease model

Chunni Zhu et al.

Summary: Inhibition of nSMase2 was found to reduce brain EV/exosome production and proteopathic protein spread in a PD mouse model, offering a potential new approach for therapeutic development in neurodegenerative diseases.

MOLECULAR BRAIN (2021)

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Review Medicine, Research & Experimental

Physiological functions and therapeutic applications of neutral sphingomyelinase and acid sphingomyelinase

Hongjiao Xiang et al.

Summary: Sphingomyelin can be converted into ceramide by neutral and acid sphingomyelinases, which play key roles in regulating cell growth and apoptosis, as well as in various diseases such as cancer and cardiovascular diseases. Therapeutic applications of NSM and ASM show promising potential in clinical treatments.

BIOMEDICINE & PHARMACOTHERAPY (2021)

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Review Biochemistry & Molecular Biology

A Comprehensive Review: Sphingolipid Metabolism and Implications of Disruption in Sphingolipid Homeostasis

Brianna M. Quinville et al.

Summary: Sphingolipids are a specialized group of lipids primarily located in the nervous system, participating in intricate metabolic pathways and playing important roles in cellular functions as well as being targeted for therapeutic purposes in various pathologies.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Biochemistry & Molecular Biology

Metabolic Dysfunction in Spinal Muscular Atrophy

Marc-Olivier Deguise et al.

Summary: Spinal muscular atrophy (SMA) is a genetic disorder causing paralysis, muscle atrophy, and death. Recent research suggests that gastrointestinal, metabolic, and endocrine defects may contribute to the disease phenotype.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Biochemistry & Molecular Biology

Novelty of Sphingolipids in the Central Nervous System Physiology and Disease: Focusing on the Sphingolipid Hypothesis of Neuroinflammation and Neurodegeneration

Maria Ayub et al.

Summary: Sphingolipids, as bioactive lipids, play important regulatory roles in cellular processes, particularly in the central nervous system. Recent studies have shown that sphingolipids and their metabolic intermediates play crucial roles in neuroinflammatory and neurodegenerative disorders.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Biochemistry & Molecular Biology

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel et al.

Summary: This study identifies SPTLC1 variants causing excessive sphingolipid biosynthesis as a monogenic form of ALS. Disruption of normal SPT regulation by ORMDL proteins leads to uncontrolled SPT activity and elevated levels of canonical SPT products. Custom-designed small interfering RNAs that selectively target the SPTLC1 ALS allele for degradation offer a potential therapeutic approach to normalize sphingolipid levels.

NATURE MEDICINE (2021)

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Review Cell Biology

The role of lipids in exosome biology and intercellular communication: Function, analytics and applications

Javier Donoso-Quezada et al.

Summary: Exosomes are important extracellular vesicles with compositions related to the progression of various diseases. Lipids, as crucial components of exosomes, play significant roles in exosome biology and intercellular communication. Exosome lipidomics is an emerging discipline that offers insights into the discovery of new lipid species for biomedical applications.

TRAFFIC (2021)

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Article Multidisciplinary Sciences

Lipidomics study of plasma from patients suggest that ALS and PLS are part of a continuum of motor neuron disorders

Estela Area-Gomez et al.

Summary: Motor neuron disorders (MND) such as ALS and PLS are characterized by different outcomes but present with similar symptoms at onset, often leading to delays in accurate diagnosis and treatment; a study on the lipid composition of longitudinal plasma samples from ALS and PLS patients suggests that, from the lipidomics perspective, these disorders behave as part of a continuum of motor neuron diseases.

SCIENTIFIC REPORTS (2021)

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Review Geriatrics & Gerontology

Motor Neuron Diseases and Neuroprotective Peptides: A Closer Look to Neurons

Emanuela Zuccaro et al.

Summary: Motor neurons (MNs) are specialized neurons responsible for muscle contraction and are specifically affected in motor neuron diseases (MNDs), with fast-fatigable MNs (FF-MNs) degenerating first. The underlying cause of the selective vulnerability of FF-MNs is still being investigated. Administration of protective neuropeptides such as PACAP and IGF-1 may be potential therapeutic interventions for ameliorating pathological outcomes related to MNDs.

FRONTIERS IN AGING NEUROSCIENCE (2021)

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Article Clinical Neurology

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Janel O. Johnson et al.

Summary: This study identified variants in the SPTLC1 gene associated with juvenile ALS, suggesting that screening for these variants may be important for patients presenting with juvenile ALS.

JAMA NEUROLOGY (2021)

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Review Cell Biology

The Link between VAPB Loss of Function and Amyotrophic Lateral Sclerosis

Nica Borgese et al.

Summary: VAP proteins are essential adaptor proteins of the ER membrane that can recruit interacting partners, with mutations leading to familial ALS. Deficiency of VAPB affects various cell processes, potentially being the main driver of ALS pathogenesis.

CELLS (2021)

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Review Biochemistry & Molecular Biology

The Multiple Roles of Sphingomyelin in Parkinson's Disease

Paola Signorelli et al.

Summary: Recent advances in research have shed light on the role of sphingomyelin in Parkinson's disease, with sphingomyelin being implicated in nerve impulse conduction and neurotransmitter receptor localization, possibly contributing to the development of Parkinson's disease.

BIOMOLECULES (2021)

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Article Clinical Neurology

Lipidomic traits of plasma and cerebrospinal fluid in amyotrophic lateral sclerosis correlate with disease progression

Joaquim Sol et al.

Summary: The study investigated the association of lipid composition in plasma and CSF with diagnosis, progression, and clinical characteristics of ALS. It found significant differences in lipid profiles between ALS cases and controls, suggesting that specific lipid species may be potential disease classifiers and modifiers of disease progression.

BRAIN COMMUNICATIONS (2021)

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Review Biochemistry & Molecular Biology

Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease

Safoura Reza et al.

Summary: GlcCer and GalCer are involved in various physiological and pathological processes, playing important roles in maintaining myelin stability and differentiation of oligodendrocytes. Enzyme studies indirectly reveal the biological significance of these monohexosylcermides.

GLYCOBIOLOGY (2021)

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Article Biochemistry & Molecular Biology

A Transcriptomic Meta-Analysis Shows Lipid Metabolism Dysregulation as an Early Pathological Mechanism in the Spinal Cord of SOD1 Mice

Luis C. Fernandez-Beltran et al.

Summary: ALS is a fatal degenerative disorder with lipid metabolic alterations playing a crucial role in disease progression. This study identified dysregulated lipid metabolic pathways in the early stages of ALS in mouse models, which worsened at symptomatic stages, providing new options for treatment.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Biochemistry & Molecular Biology

Lipid Rafts in Exosome Biogenesis

G. O. Skryabin et al.

BIOCHEMISTRY-MOSCOW (2020)

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Article Clinical Neurology

Antidiabetics, statins and the risk of amyotrophic lateral sclerosis

D. Mariosa et al.

EUROPEAN JOURNAL OF NEUROLOGY (2020)

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Article Biochemistry & Molecular Biology

Nanodomains can persist at physiologic temperature in plasma membrane vesicles and be modulated by altering cell lipids[S]

Guangtao Li et al.

JOURNAL OF LIPID RESEARCH (2020)

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Editorial Material Biochemistry & Molecular Biology

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JOURNAL OF LIPID RESEARCH (2020)

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Review Cell Biology

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TRENDS IN CELL BIOLOGY (2020)

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A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis

Gorka Fernandez-Eulate et al.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2020)

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Inhibition of sphingolipid synthesis improves outcomes and survival in GARP mutant wobbler mice, a model of motor neuron degeneration

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

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ORPHANET JOURNAL OF RARE DISEASES (2020)

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Sphingomyelin Acyl Chains Influence the Formation of Sphingomyelin- and Cholesterol-Enriched Domains

Oskar Engberg et al.

BIOPHYSICAL JOURNAL (2020)

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Review Health Care Sciences & Services

A Systematic Review of Genotype-Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS

Owen Connolly et al.

JOURNAL OF PERSONALIZED MEDICINE (2020)

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Review Clinical Neurology

Kennedy's disease: an under-recognized motor neuron disorder

Elia G. Malek et al.

ACTA NEUROLOGICA BELGICA (2020)

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Article Medicine, General & Internal

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Timothy Miller et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

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Article Clinical Neurology

Untargeted metabolomics yields insight into ALS disease mechanisms

Stephen A. Goutman et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2020)

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Review Clinical Neurology

Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)

Atsushi Hashizume et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2020)

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Ceramide signalling in inherited and multifactorial brain metabolic diseases

Devesh C. Pant et al.

NEUROBIOLOGY OF DISEASE (2020)

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Article Cell Biology

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Johnathan Cooper-Knock et al.

CELL REPORTS (2020)

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Review Clinical Neurology

Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care

David C. Schorling et al.

JOURNAL OF NEUROMUSCULAR DISEASES (2020)

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Exosomes: biogenesis, biologic function and clinical potential

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CELL AND BIOSCIENCE (2019)

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Alteration of Sphingolipids in Biofluids: Implications for Neurodegenerative Diseases

Luciana M. Pujol-Lereis

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

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Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

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CELLS (2019)

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Ambroxol Hydrochloride Improves Motor Functions and Extends Survival in a Mouse Model of Familial Amyotrophic Lateral Sclerosis

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The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

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Hypermetabolism in ALS is associated with greater functional decline and shorter survival

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Angela Sun

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Ingrid E. C. Verhaart et al.

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Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS

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SCIENTIFIC REPORTS (2017)

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Blood Biomarkers of Carbohydrate, Lipid, and Apolipoprotein Metabolisms and Risk of Amyotrophic Lateral Sclerosis: A More Than 20-Year Follow-up of the Swedish AMORIS Cohort

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ANNALS OF NEUROLOGY (2017)

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Review Clinical Neurology

The Direct Effects of Fingolimod in the Central Nervous System: Implications for Relapsing Multiple Sclerosis

Samuel F. Hunter et al.

CNS DRUGS (2016)

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Article Clinical Neurology

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

Anna Rocchi et al.

ACTA NEUROPATHOLOGICA (2016)

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Article Biochemistry & Molecular Biology

Cholesterol interactions with ceramide and sphingomyelin

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CHEMISTRY AND PHYSICS OF LIPIDS (2016)

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Article Pediatrics

Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II

Rebecca Hurst Davis et al.

JOURNAL OF PEDIATRICS (2015)

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Article Clinical Neurology

Spinal Muscular Atrophy

Stephen J. Kolb et al.

NEUROLOGIC CLINICS (2015)

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Article Multidisciplinary Sciences

Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis

James C. Dodge et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

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Review Clinical Neurology

Fabry's disease

Rima El-Abassi et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)

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Review Neurosciences

State of play in amyotrophic lateral sclerosis genetics

Alan E. Renton et al.

NATURE NEUROSCIENCE (2014)

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A plural role for lipids in motor neuron diseases: energy, signaling and structure

Florent Schmitt et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2014)

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Differential motor neuron involvement in progressive muscular atrophy: a comparative study with amyotrophic lateral sclerosis

Yuichi Riku et al.

BMJ OPEN (2014)

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Article Clinical Neurology

Plasma metabolomic biomarker panel to distinguish patients with amyotrophic lateral sclerosis from disease mimics

Kay A. Lawton et al.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2014)

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Review Biochemistry & Molecular Biology

Glycosphingolipids: synthesis and functions

Giovanni D'Angelo et al.

FEBS JOURNAL (2013)

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Review Biochemistry & Molecular Biology

Sphingolipids: regulators of crosstalk between apoptosis and autophagy

Megan M. Young et al.

JOURNAL OF LIPID RESEARCH (2013)

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Review Oncology

Biogenesis of extracellular vesicles (EV): exosomes, microvesicles, retrovirus-like vesicles, and apoptotic bodies

Johnny C. Akers et al.

JOURNAL OF NEURO-ONCOLOGY (2013)

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Review Clinical Neurology

Fingolimod: Direct CNS effects of sphingosine 1-phosphate (S1P) receptor modulation and implications in multiple sclerosis therapy

Aran Groves et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2013)

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Article Biotechnology & Applied Microbiology

Extracellular vesicles: biology and emerging therapeutic opportunities

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NATURE REVIEWS DRUG DISCOVERY (2013)

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Review Biochemistry & Molecular Biology

Biological functions of sphingomyelins

J. Peter Slotte

PROGRESS IN LIPID RESEARCH (2013)

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Article Multidisciplinary Sciences

Ongoing activation of sphingosine 1-phosphate receptors mediates maturation of exosomal multivesicular endosomes

Taketoshi Kajimoto et al.

NATURE COMMUNICATIONS (2013)

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Article Clinical Neurology

Body mass index (BMI) as predictor of ALSFRS-R score decline in ALS patients

Ronit Reich-Slotky et al.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2013)

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Article Genetics & Heredity

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

Jie Zhou et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

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Article Clinical Neurology

Biochemical alterations associated with ALS

Kay A. Lawton et al.

AMYOTROPHIC LATERAL SCLEROSIS (2012)

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Article Biochemistry & Molecular Biology

Exosomes and microvesicles: extracellular vesicles for genetic information transfer and gene therapy

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HUMAN MOLECULAR GENETICS (2012)

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Article Multidisciplinary Sciences

Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

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PLOS ONE (2012)

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Review Biochemical Research Methods

Sphingolipid and Ceramide Homeostasis: Potential Therapeutic Targets

Simon A. Young et al.

BIOCHEMISTRY RESEARCH INTERNATIONAL (2012)

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Review Biochemistry & Molecular Biology

Cellular and molecular biology of glycosphingolipid glycosylation

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JOURNAL OF NEUROCHEMISTRY (2011)

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Article Clinical Neurology

BODY MASS INDEX, NOT DYSLIPIDEMIA, IS AN INDEPENDENT PREDICTOR OF SURVIVAL IN AMYOTROPHIC LATERAL SCLEROSIS

Sabrina Paganoni et al.

MUSCLE & NERVE (2011)

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Article Cell Biology

Lysosomal Lipid Storage Diseases

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COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)

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Review Cardiac & Cardiovascular Systems

Sphingomyelinases: their regulation and roles in cardiovascular pathophysiology

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CARDIOVASCULAR RESEARCH (2009)

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Article Andrology

Androgen receptor CAG repeats and body composition among Ariaal men

Benjamin C. Campbell et al.

INTERNATIONAL JOURNAL OF ANDROLOGY (2009)

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Article Clinical Neurology

Are statin medications safe in patients with ALS?

Lorne Zinman et al.

AMYOTROPHIC LATERAL SCLEROSIS (2008)

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Article Biophysics

Metachromatic leukodystrophy: an overview of current and prospective treatments

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BONE MARROW TRANSPLANTATION (2008)

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Dyslipidemia is a protective factor in amyotrophic lateral sclerosis

L. Dupuis et al.

NEUROLOGY (2008)

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Article Neurosciences

Mitochondrial superoxide production and nuclear factor erythroid 2-related factor 2 activation in p75 neurotrophin receptor-induced motor neuron apoptosis

Mariana Pehar et al.

JOURNAL OF NEUROSCIENCE (2007)

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Article Biochemistry & Molecular Biology

LIPID MAPS online tools for lipid research

Eoin Fahy et al.

NUCLEIC ACIDS RESEARCH (2007)

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Review Biochemistry & Molecular Biology

CERT and intracellular trafficking of ceramide

Kentaro Hanada et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2007)

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A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy

Stefan Krebs et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

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Review Biochemistry & Molecular Biology

Sphingolipid metabolism diseases

Thomas Kolter et al.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2006)

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Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)

H Houlden et al.

BRAIN (2006)

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Article Endocrinology & Metabolism

Testosterone inhibits adipogenic differentiation in 3T3-L1 cells: Nuclear translocation of androgen receptor complex with beta-catenin and T-cell factor 4 may bypass canonical Wnt signaling to down-regulate adipogenic transcription factors

R Singh et al.

ENDOCRINOLOGY (2006)

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Metabolomic analysis and signatures in motor neuron disease

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METABOLOMICS (2005)

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Astroglial expression of ceramide in Alzheimer's disease brains: A role during neuronal apoptosis

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NEUROSCIENCE (2005)

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Article Cell Biology

Amyloid-β peptide induces oligodendrocyte death by activating the neutral sphingomyelinase-ceramide pathway

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JOURNAL OF CELL BIOLOGY (2004)

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Article Biochemistry & Molecular Biology

Molecular mechanisms of TNF-α-induced ceramide formation in human glioma cells:P53-mediated oxidant stress-dependent and -independent pathways

M Sawada et al.

CELL DEATH AND DIFFERENTIATION (2004)

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Article Genetics & Heredity

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

AL Nishimura et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2004)

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Article Biochemistry & Molecular Biology

Purification, localization, and expression of human intestinal alkaline sphingomyelinase

RD Duan et al.

JOURNAL OF LIPID RESEARCH (2003)

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Article Endocrinology & Metabolism

The CAG repeat polymorphism in the androgen receptor gene modulates body fat mass and serum concentrations of leptin and insulin in men

M Zitzmann et al.

DIABETOLOGIA (2003)

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Article Clinical Neurology

Evidence that accumulation of ceramides and cholesterol esters mediates oxidative stress-induced death of motor neurons in amyotrophic lateral sclerosis

RG Cutler et al.

ANNALS OF NEUROLOGY (2002)

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Article Biochemistry & Molecular Biology

Nerve growth factor-induced p75-mediated death of cultured hippocampal neurons is age-dependent and transduced through ceramide generated by neutral sphingomyelinase

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JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

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