The cerebellum and cognitive neural networks

P Zhang, L Duan, Y Ou, Q Ling, L Cao… - Frontiers in human …, 2023 - frontiersin.org
Cognitive function represents a complex neurophysiological capacity of the human brain,
encompassing a higher level of neural processing and integration. It is widely …

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 …

Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to …

T Vo, B Balderson, K Jones, G Ni, J Crawford, A Millar… - Genome Medicine, 2023 - Springer
Background Medulloblastoma (MB) is a malignant tumour of the cerebellum which can be
classified into four major subgroups based on gene expression and genomic features …

The neurotrophic factor MANF regulates autophagy and lysosome function to promote proteostasis in Caenorhabditis elegans

SKB Taylor, JH Hartman, BP Gupta - … of the National Academy of Sciences, 2024 - pnas.org
The conserved mesencephalic astrocyte-derived neurotrophic factor (MANF) is known for
protecting dopaminergic neurons and functioning in various other tissues. Previously, we …

[HTML][HTML] MAVS mediates a protective immune response in the brain to Rift Valley fever virus

NR Hum, FA Bourguet, A Sebastian, D Lam… - PLoS …, 2022 - journals.plos.org
Rift Valley fever virus (RVFV) is a highly pathogenic mosquito-borne virus capable of
causing hepatitis, encephalitis, blindness, hemorrhagic syndrome, and death in humans and …

The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells

TJ Kunkel, A Townsend, KA Sullivan, J Merlet… - Nature …, 2023 - nature.com
The intracellular cholesterol transporter NPC1 functions in late endosomes and lysosomes
to efflux unesterified cholesterol, and its deficiency causes Niemann–Pick disease Type C …

Ferroptosis-related genes in neurodevelopment and central nervous system

SW Kim, Y Kim, SE Kim, JY An - Biology, 2021 - mdpi.com
Simple Summary Ferroptosis is a recently defined form of regulatory cell death. To get a
grasp of the prospective role of ferroptosis in the brain development, we collated ferroptosis …

Understanding and treating niemann–pick type c disease: Models matter

V Pallottini, FW Pfrieger - International Journal of Molecular Sciences, 2020 - mdpi.com
Biomedical research aims to understand the molecular mechanisms causing human
diseases and to develop curative therapies. So far, these goals have been achieved for a …

[HTML][HTML] Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model

S Liu, T Xie, Y Huang - International Journal of Molecular Sciences, 2024 - mdpi.com
GM1 gangliosidosis is a lysosomal storage disorder characterized by the accumulation of
GM1 ganglioside, leading to severe neurodegeneration and early mortality. The disease …