Genetic defects in the sphingolipid degradation pathway and their effects on microglia in neurodegenerative disease

Novel Alzheimer risk genes determine the microglia response to amyloid‐β but not to TAU pathology

(2020) Annerieke Sierksma et al.   EMBO Molecular Medicine

Lipid-droplet-accumulating microglia represent a dysfunctional and proinflammatory state in the aging brain

(2020) Julia Marschallinger et al.   NATURE NEUROSCIENCE

TREM2 Regulates Microglial Cholesterol Metabolism upon Chronic Phagocytic Challenge

(2020) Alicia A. Nugent et al.   NEURON

Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction

(2020) Nadav I. Weinstock et al.   NEURON

Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins

(2020) Piyali Saha et al.   eLife

Novel Hexb-based tools for studying microglia in the CNS

(2020) Takahiro Masuda et al.   NATURE IMMUNOLOGY

Core Concept: How synaptic pruning shapes neural wiring during development and, possibly, in disease

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

Microglia damage precedes major myelin breakdown in X-linked adrenoleukodystrophy and metachromatic leukodystrophy

(2019) Caroline G. Bergner et al.   GLIA

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development

(2019) Laura E. Kuil et al.   GLIA

Lysosomal Glycosphingolipid Storage Diseases

(2019) Bernadette Breiden et al.   Annual Review of Biochemistry

Arylsulfatase A, a genetic modifier of Parkinson’s disease, is an α-synuclein chaperone

(2019) Jun Sung Lee et al.   BRAIN

Ageing as a risk factor for neurodegenerative disease

(2019) Yujun Hou et al.   Nature Reviews Neurology

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease

(2019) Mylene Huebecker et al.   Molecular Neurodegeneration

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

(2019) Shanice Beerepoot et al.   Orphanet Journal of Rare Diseases

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes

(2019) Giulia Massaro et al.   HUMAN MOLECULAR GENETICS

Emerging concepts of ganglioside metabolism

(2018) Roger Sandhoff et al.   FEBS LETTERS

Microglia activation in Niemann–Pick disease, type C1 is amendable to therapeutic intervention

(2018) Antony Cougnoux et al.   HUMAN MOLECULAR GENETICS

Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders

(2018) Soo Min Cho et al.   JOURNAL OF NEUROCHEMISTRY

The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure

(2018) Chris H. Hill et al.   Nature Communications

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

(2018) Nicholas Bascou et al.   Orphanet Journal of Rare Diseases

Microglia and the Brain: Complementary Partners in Development and Disease

(2018) Timothy R. Hammond et al.   Annual Review of Cell and Developmental Biology

Lipid‐induced lysosomal damage after demyelination corrupts microglia protective function in lysosomal storage disorders

(2018) Enrique Gabandé‐Rodríguez et al.   EMBO JOURNAL

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury

(2017) Nicole J. Scott-Hewitt et al.   HUMAN MOLECULAR GENETICS

Microglia in Alzheimer’s disease

(2017) David V. Hansen et al.   JOURNAL OF CELL BIOLOGY

Microglia in Alzheimer’s disease

(2017) Heela Sarlus et al.   JOURNAL OF CLINICAL INVESTIGATION

The metabolism of glucocerebrosides — From 1965 to the present

(2017) Anthony H. Futerman et al.   MOLECULAR GENETICS AND METABOLISM

Types A and B Niemann-Pick disease

(2017) Edward H. Schuchman et al.   MOLECULAR GENETICS AND METABOLISM

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

(2017) Diana Chang et al.   NATURE GENETICS

Trifunctional lipid probes for comprehensive studies of single lipid species in living cells

(2017) Doris Höglinger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Intracellular Cholesterol Trafficking and Impact in Neurodegeneration

(2017) Fabian Arenas et al.   Frontiers in Molecular Neuroscience

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

(2016) Maria J. Ferraz et al.   FEBS LETTERS

Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann–Pick disease

(2016) A Pérez-Cañamás et al.   MOLECULAR PSYCHIATRY

Age-related myelin degradation burdens the clearance function of microglia during aging

(2016) Shima Safaiyan et al.   NATURE NEUROSCIENCE

Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2

(2016) Xiaochun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy

(2016) Kathryn A. Thibert et al.   Scientific Reports

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment

(2015) Diane F. van Rappard et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Secretory sphingomyelinase in health and disease

(2015) Johannes Kornhuber et al.   BIOLOGICAL CHEMISTRY

TREM2 Lipid Sensing Sustains the Microglial Response in an Alzheimer’s Disease Model

(2015) Yaming Wang et al.   CELL

Glucocerebrosidase 1 deficientDanio reriomirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death

(2015) Marcus Keatinge et al.   HUMAN MOLECULAR GENETICS

TREM2 sustains microglial expansion during aging and response to demyelination

(2015) Pietro Luigi Poliani et al.   JOURNAL OF CLINICAL INVESTIGATION

Anti-inflammatory Therapy With Simvastatin Improves Neuroinflammation and CNS Function in a Mouse Model of Metachromatic Leukodystrophy

(2015) Axel Stein et al.   MOLECULAR THERAPY

Microglia constitute a barrier that prevents neurotoxic protofibrillar Aβ42 hotspots around plaques

(2015) Carlo Condello et al.   Nature Communications

Neuroinflammatory paradigms in lysosomal storage diseases

(2015) Megan E. Bosch et al.   Frontiers in Neuroscience

Alzheimer's disease

(2015) Colin L. Masters et al.   Nature Reviews Disease Primers

Neuroinflammation in Parkinson’s disease and its potential as therapeutic target

(2015) Qinqin Wang et al.   Translational Neurodegeneration

Microglial dysfunction in brain aging and Alzheimer's disease

(2014) Kira Irving Mosher et al.   BIOCHEMICAL PHARMACOLOGY

Sulfatide, A Major Lipid Component of Myelin Sheath, Activates Inflammatory Responses As an Endogenous Stimulator in Brain-Resident Immune Cells

(2014) S.-B. Jeon et al.   JOURNAL OF IMMUNOLOGY

Aberrant Production of Tenascin-C in Globoid Cell Leukodystrophy Alters Psychosine-Induced Microglial Functions

(2014) Kumiko I. Claycomb et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

Innate Immune Activation in the Pathogenesis of a Murine Model of Globoid Cell Leukodystrophy

(2013) Eric R. Snook et al.   AMERICAN JOURNAL OF PATHOLOGY

Systemic ceramide accumulation leads to severe and varied pathological consequences

(2013) Abdulfatah M. Alayoubi et al.   EMBO Molecular Medicine

MMP-3 mediates psychosine-induced globoid cell formation: Implications for leukodystrophy pathology

(2013) Kumiko Ijichi et al.   GLIA

Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease

(2013) Gregory B. Potter et al.   HUMAN MOLECULAR GENETICS

Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice

(2013) Hatem Abo-ouf et al.   HUMAN MOLECULAR GENETICS

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1

(2013) Stephanie M. Cologna et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cross-talk of membrane lipids and Alzheimer-related proteins

(2013) Jochen Walter et al.   Molecular Neurodegeneration

Central Nervous System Pathology Progresses Independently of KC and CXCR2 in Globoid-Cell Leukodystrophy

(2013) Adarsh S. Reddy et al.   PLoS One

Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease

(2012) Einat B. Vitner et al.   BRAIN

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation

(2012) Stephanos Kyrkanides et al.   Journal of Neuroinflammation

Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-  Peptide

(2012) S. Keilani et al.   JOURNAL OF NEUROSCIENCE

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sphingolipids: Critical players in Alzheimer’s disease

(2012) Gerhild van Echten-Deckert et al.   PROGRESS IN LIPID RESEARCH

Characterization of Inducible Models of Tay-Sachs and Related Disease

(2012) Timothy J. Sargeant et al.   PLoS Genetics

Sphingolipid and Glycosphingolipid Metabolic Pathways in the Era of Sphingolipidomics

(2011) Alfred H. Merrill   CHEMICAL REVIEWS

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

Macrophages Counteract Demyelination in a Mouse Model of Globoid Cell Leukodystrophy

(2011) Y. Kondo et al.   JOURNAL OF NEUROSCIENCE

What Genetics Tells us About the Causes and Mechanisms of Parkinson's Disease

(2011) Olga Corti et al.   PHYSIOLOGICAL REVIEWS

Lysosomal Lipid Storage Diseases

(2011) H. Schulze et al.   Cold Spring Harbor Perspectives in Biology

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

(2010) Marie T. Vanier et al.   CLINICAL GENETICS

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A

(2009) Barbara Buccinnà et al.   JOURNAL OF NEUROCHEMISTRY

MUTATIONS IN GBA ARE ASSOCIATED WITH FAMILIAL PARKINSON DISEASE SUSCEPTIBILITY AND AGE AT ONSET

(2009) E. Sidransky et al.   NEUROLOGY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure–function studies associated with cerebellar Purkinje cell degeneration

(2008) Shannon L. Macauley et al.   EXPERIMENTAL NEUROLOGY

Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease

(2008) Yun-Ping Wu et al.   HUMAN MOLECULAR GENETICS

Peripheral blood mononuclear cell infiltration and neuroinflammation in the HexB−/− mouse model of neurodegeneration

(2008) Stephanos Kyrkanides et al.   JOURNAL OF NEUROIMMUNOLOGY

The Role and Metabolism of Sulfatide in the Nervous System

(2008) Matthias Eckhardt   MOLECULAR NEUROBIOLOGY

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

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

Principles of bioactive lipid signalling: lessons from sphingolipids

(2008) Yusuf A. Hannun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

NPC1/NPC2 function as a tag team duo to mobilize cholesterol

(2008) K. Subramanian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical and Immunopathologic Alterations in Rhesus Macaques Affected with Globoid Cell Leukodystrophy

(2007) Juan T. Borda et al.   AMERICAN JOURNAL OF PATHOLOGY