The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C

Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

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Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice

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Human and mouse single-nucleus transcriptomics reveal TREM2-dependent and TREM2-independent cellular responses in Alzheimer’s disease

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Single-cell-resolution transcriptome map of human, chimpanzee, bonobo, and macaque brains

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Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

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Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2

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Evolving therapy of adult acute lymphoblastic leukemia: state-of-the-art treatment and future directions

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Lysosome-targeting chimaeras for degradation of extracellular proteins

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Comprehensive identification of mRNA isoforms reveals the diversity of neural cell-surface molecules with roles in retinal development and disease

(2020) Thomas A. Ray et al.   Nature Communications

Single-Nucleus RNA-Seq Is Not Suitable for Detection of Microglial Activation Genes in Humans

(2020) Nicola Thrupp et al.   Cell Reports

Single cell RNA sequencing of human microglia uncovers a subset associated with Alzheimer’s disease

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Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history

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CD22 blockade restores homeostatic microglial phagocytosis in ageing brains

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Single-cell transcriptomic analysis of Alzheimer’s disease

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Single-Cell Multi-omic Integration Compares and Contrasts Features of Brain Cell Identity

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Development of a Chimeric Model to Study and Manipulate Human Microglia In Vivo

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Conserved cell types with divergent features in human versus mouse cortex

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Targeting microglia with lentivirus and AAV: Recent advances and remaining challenges

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Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins

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Lysosomes as dynamic regulators of cell and organismal homeostasis

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Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) is involved in lysosomal cholesterol export

(2019) Saskia Heybrock et al.   Nature Communications

Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C

(2019) Larisa Kavetsky et al.   Scientific Reports

Mitochondrial Cholesterol in Alzheimer's Disease and Niemann–Pick Type C Disease

(2019) Sandra Torres et al.   Frontiers in Neurology

Cross-Species Single-Cell Analysis Reveals Divergence of the Primate Microglia Program

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Transcriptional profiling of microglia; current state of the art and future perspectives

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Unique molecular signature in mucolipidosis type IV microglia

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

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AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

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

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Development and validation of a simplified method to generate human microglia from pluripotent stem cells

(2018) Amanda McQuade et al.   Molecular Neurodegeneration

Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens

(2018) Michael S. Haney et al.   NATURE GENETICS

Hydroxypropyl-beta and -gamma cyclodextrins rescue cholesterol accumulation in Niemann–Pick C1 mutant cell via lysosome-associated membrane protein 1

(2018) Ashutosh Singhal et al.   Cell Death & Disease

B Cell Siglecs–News on Signaling and Its Interplay With Ligand Binding

(2018) Sarah J. Meyer et al.   Frontiers in Immunology

Lysosomal storage diseases

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

Human antibodies against the myelin oligodendrocyte glycoprotein can cause complement-dependent demyelination

(2017) Patrick Peschl et al.   Journal of Neuroinflammation

Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers

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Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

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iPSC-Derived Human Microglia-like Cells to Study Neurological Diseases

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Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C

(2017) Tsuyoshi Kodachi et al.   NEUROPATHOLOGY

Molecular basis of human CD22 function and therapeutic targeting

(2017) June Ereño-Orbea et al.   Nature Communications

Proteomic Analysis of Unbounded Cellular Compartments: Synaptic Clefts

(2016) Ken H. Loh et al.   CELL

Systematic comparison of CRISPR/Cas9 and RNAi screens for essential genes

(2016) David W Morgens et al.   NATURE BIOTECHNOLOGY

The Perseus computational platform for comprehensive analysis of (prote)omics data

(2016) Stefka Tyanova et al.   NATURE METHODS

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

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Spatially resolved proteomic mapping in living cells with the engineered peroxidase APEX2

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Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse

(2016) Ye Zhang et al.   NEURON

Chronic administration of an HDAC inhibitor treats both neurological and systemic Niemann-Pick type C disease in a mouse model

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

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Lysosomal membrane glycoproteins bind cholesterol and contribute to lysosomal cholesterol export

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Diagnostic and prognostic roles of soluble CD22 in patients with Gram-negative bacterial sepsis

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A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

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Generation and isolation of oligodendrocyte progenitor cells from human pluripotent stem cells

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Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection

(2015) Feiran Lu et al.   eLife

Bidirectional links between Alzheimer's disease and Niemann–Pick type C disease

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

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Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1

(2012) Celine V.M. Cluzeau et al.   HUMAN MOLECULAR GENETICS

Role of Cathepsin D in U18666A-induced Neuronal Cell Death

(2012) Asha Amritraj et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight

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Prolonged myelination in human neocortical evolution

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Exosome Secretion Ameliorates Lysosomal Storage of Cholesterol in Niemann-Pick Type C Disease

(2010) Katrin Strauss et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

In Situ transLigands of CD22 Identified by Glycan-Protein Photocross-linking-enabled Proteomics

(2010) T. N. C. Ramya et al.   MOLECULAR & CELLULAR PROTEOMICS

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

(2010) M. Walterfang et al.   NEUROLOGY

Increased Activity and Altered Subcellular Distribution of Lysosomal Enzymes Determine Neuronal Vulnerability in Niemann-Pick Type C1-Deficient Mice

(2009) Asha Amritraj et al.   AMERICAN JOURNAL OF PATHOLOGY

Soluble CD22 as a tumor marker for hairy cell leukemia

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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

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY

Clinical, Electrophysiological, and Serum Biochemical Measures of Progressive Neurological and Hepatic Dysfunction in Feline Niemann-Pick Type C Disease

(2008) Charles H Vite et al.   PEDIATRIC RESEARCH