Early steps in steroidogenesis: intracellular cholesterol trafficking: thematic review series: genetics of human lipid diseases
Steroid hormones are made from cholesterol, primarily derived from lipoproteins that enter
cells via receptor-mediated endocytosis. In endo-lysosomes, cholesterol is released from …
cells via receptor-mediated endocytosis. In endo-lysosomes, cholesterol is released from …
Glucocerebrosidase and its relevance to Parkinson disease
J Do, C McKinney, P Sharma, E Sidransky - Molecular neurodegeneration, 2019 - Springer
Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are
among the most common known genetic risk factors for the development of Parkinson …
among the most common known genetic risk factors for the development of Parkinson …
[HTML][HTML] Cholesterol and matrisome pathways dysregulated in astrocytes and microglia
The impact of apolipoprotein E ε4 (APOE4), the strongest genetic risk factor for Alzheimer's
disease (AD), on human brain cellular function remains unclear. Here, we investigated the …
disease (AD), on human brain cellular function remains unclear. Here, we investigated the …
HDAC and PI3K antagonists cooperate to inhibit growth of MYC-driven medulloblastoma
Medulloblastoma (MB) is a highly malignant pediatric brain tumor. Despite aggressive
therapy, many patients succumb to the disease, and survivors experience severe side …
therapy, many patients succumb to the disease, and survivors experience severe side …
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 …
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …
Disorders in the initial steps of steroid hormone synthesis
WL Miller - The Journal of steroid biochemistry and molecular …, 2017 - Elsevier
Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and
subsequent intracellular processing of cholesterol. Disorders in these steps include …
subsequent intracellular processing of cholesterol. Disorders in these steps include …
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
CA Wassif, JL Cross, J Iben, L Sanchez-Pulido… - Genetics in …, 2016 - nature.com
Purpose: Niemann-Pick disease type C (NPC) is a recessive, neurodegenerative, lysosomal
storage disease caused by mutations in either NPC1 or NPC2. The diagnosis is difficult and …
storage disease caused by mutations in either NPC1 or NPC2. The diagnosis is difficult and …
Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses
T Kirkegaard, J Gray, DA Priestman… - Science translational …, 2016 - science.org
Lysosomal storage diseases (LSDs) often manifest with severe systemic and central
nervous system (CNS) symptoms. The existing treatment options are limited and have no or …
nervous system (CNS) symptoms. The existing treatment options are limited and have no or …
Niemann–Pick type C disease: cellular pathology and pharmacotherapy
S Wheeler, DJ Sillence - Journal of neurochemistry, 2020 - Wiley Online Library
Niemann–Pick type C disease (NPCD) was first described in 1914 and affects approximately
1 in 150 000 live births. It is characterized clinically by diverse symptoms affecting liver …
1 in 150 000 live births. It is characterized clinically by diverse symptoms affecting liver …
Analysis of cholesterol trafficking with fluorescent probes
Cholesterol plays an important role in determining the biophysical properties of biological
membranes, and its concentration is tightly controlled by homeostatic processes. The …
membranes, and its concentration is tightly controlled by homeostatic processes. The …