Excitatory amino acid transporters in physiology and disorders of the central nervous system

AR Malik, TE Willnow - International journal of molecular sciences, 2019 - mdpi.com
Excitatory amino acid transporters (EAATs) encompass a class of five transporters with
distinct expression in neurons and glia of the central nervous system (CNS). EAATs are …

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 …

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 …

Therapeutic implications of sonic hedgehog pathway in metabolic disorders: Novel target for effective treatment

C Garg, A Kaur, TG Singh, VK Sharma… - Pharmacological …, 2022 - Elsevier
Hedgehog, a developmental morphogen, and its downstream signalling have recently been
associated with metabolic control. Sonic hedgehog signalling (Shh) is a significant pathway …

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation

MT Fiorenza, E Moro, RP Erickson - Human molecular genetics, 2018 - academic.oup.com
There is growing evidence that the complex clinical manifestations of lysosomal storage
diseases (LSDs) are not fully explained by the engorgement of the endosomal-autophagic …

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease

S Canterini, J Dragotto, A Dardis… - Human Molecular …, 2017 - academic.oup.com
Abstract The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal
storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein …

Two pathways of rod photoreceptor cell death induced by elevated cGMP

T Wang, SH Tsang, J Chen - Human molecular genetics, 2017 - academic.oup.com
Cyclic-GMP is a second messenger in phototransduction, a G-protein signaling cascade that
conveys photon absorption by rhodopsin to a change in current at the rod photoreceptor …

Altered brain cholesterol/isoprenoid metabolism in a rat model of autism spectrum disorders

V Cartocci, M Catallo, M Tempestilli, M Segatto… - Neuroscience, 2018 - Elsevier
Autism spectrum disorders (ASDs) present a wide range of symptoms characterized by
altered sociability, compromised communication and stereotypic/repetitive behaviors. These …

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

NX Cawley, C Sojka, A Cougnoux, AT Lyons… - PLoS …, 2020 - journals.plos.org
A hallmark of Niemann-Pick disease, type C (NPC) is the progressive degeneration of
Purkinje neurons in the cerebellum caused by the accumulation of free cholesterol and …

[HTML][HTML] TBBPA targets converging key events of human oligodendrocyte development resulting in two novel AOPs

J Klose, J Tigges, S Masjosthusmann… - ALTEX-Alternatives to …, 2021 - altex.org
Myelinating oligodendrocytes (OLs) establish saltatory nerve conduction during white matter
development. Thus, interference with oligodendrogenesis leads to an adverse outcome on …