Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

M Las Heras, B Szenfeld, RA Ballout, E Buratti… - NPJ Genomic …, 2023 - nature.com
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD)
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …

Sialylation and galectin-3 in microglia-mediated neuroinflammation and neurodegeneration

M Puigdellívol, DH Allendorf, GC Brown - Frontiers in cellular …, 2020 - frontiersin.org
Microglia are brain macrophages that mediate neuroinflammation and contribute to and
protect against neurodegeneration. The terminal sugar residue of all glycoproteins and …

Tonic prime-boost of STING signalling mediates Niemann–Pick disease type C

TT Chu, X Tu, K Yang, J Wu, JJ Repa, N Yan - Nature, 2021 - nature.com
The classic mode of STING activation is through binding the cyclic dinucleotide 2′ 3′-
cyclic GMP–AMP (cGAMP), produced by the DNA sensor cyclic GMP–AMP synthase …

CD22 blockade restores homeostatic microglial phagocytosis in ageing brains

JV Pluvinage, MS Haney, BAH Smith, J Sun, T Iram… - Nature, 2019 - nature.com
Microglia maintain homeostasis in the central nervous system through phagocytic clearance
of protein aggregates and cellular debris. This function deteriorates during ageing and …

CARD9+ microglia promote antifungal immunity via IL-1β- and CXCL1-mediated neutrophil recruitment

RA Drummond, M Swamydas, V Oikonomou… - Nature …, 2019 - nature.com
The C-type lectin receptor–Syk (spleen tyrosine kinase) adaptor CARD9 facilitates protective
antifungal immunity within the central nervous system (CNS), as human deficiency in …

The Niemann-Pick type diseases–A synopsis of inborn errors in sphingolipid and cholesterol metabolism

FW Pfrieger - Progress in lipid research, 2023 - Elsevier
Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

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

A Colombo, L Dinkel, SA Müller… - Nature …, 2021 - nature.com
Niemann-Pick type C disease is a rare neurodegenerative disorder mainly caused by
mutations in NPC1, resulting in abnormal late endosomal/lysosomal lipid storage. Although …

Cyclodextrins applied to the treatment of lysosomal storage disorders

Y Ishitsuka, T Irie, M Matsuo - Advanced Drug Delivery Reviews, 2022 - Elsevier
Cyclodextrin (CD), a cyclic oligosaccharide, is a pharmaceutical additive that improves the
solubility of hydrophobic compounds. Recent research has focused on the potential active …

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

E Gabandé‐Rodríguez, A Pérez‐Cañamás… - The EMBO …, 2019 - embopress.org
Neuropathic lysosomal storage disorders (LSD s) present with activated pro‐inflammatory
microglia. However, anti‐inflammatory treatment failed to improve disease pathology. We …

Astrocytic neuroimmunological roles interacting with microglial cells in neurodegenerative diseases

M Gotoh, Y Miyamoto, H Ikeshima-Kataoka - International journal of …, 2023 - mdpi.com
Both astrocytic and microglial functions have been extensively investigated in healthy
subjects and neurodegenerative diseases. For astrocytes, not only various sub-types were …