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 …
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 …
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 …
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
Hedgehog, a developmental morphogen, and its downstream signalling have recently been
associated with metabolic control. Sonic hedgehog signalling (Shh) is a significant pathway …
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
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 …
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 …
storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein …
Two pathways of rod photoreceptor cell death induced by elevated cGMP
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 …
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 …
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 …
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 …
development. Thus, interference with oligodendrogenesis leads to an adverse outcome on …