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 …

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

CH Vite, JH Bagel, GP Swain, M Prociuk… - Science translational …, 2015 - science.org
Niemann-Pick type C1 (NPC) disease is a lysosomal storage disease caused by mutations
in the NPC1 gene, leading to an increase in unesterified cholesterol and several …

Activation of TRPML1 clears intraneuronal Aβ in preclinical models of HIV infection

M Bae, N Patel, H Xu, M Lee… - Journal of …, 2014 - Soc Neuroscience
Antiretroviral therapy extends the lifespan of human immunodeficiency virus (HIV)-infected
patients, but many survivors develop premature impairments in cognition. These residual …

APP/PS1 mice overexpressing SREBP-2 exhibit combined Aβ accumulation and tau pathology underlying Alzheimer's disease

E Barbero-Camps, A Fernández… - Human molecular …, 2013 - academic.oup.com
Current evidence indicates that excess brain cholesterol regulates amyloid-β (Aβ)
deposition, which in turn can regulate cholesterol homeostasis. Moreover, Aβ neurotoxicity …

Long-term treatment of Niemann-Pick type C1 disease with intrathecal 2-hydroxypropyl-β-cyclodextrin

E Berry-Kravis, J Chin, A Hoffmann, A Winston… - Pediatric …, 2018 - Elsevier
Abstract Background Intrathecal 2-hydoxypropyl-β-cyclodextrin has been found to mobilize
cholesterol, extend life, reduce cerebellar pathology, and delay onset of ataxia in the mouse …

The domestic cat as a natural animal model of Alzheimer's disease

JK Chambers, T Tokuda, K Uchida, R Ishii… - Acta neuropathologica …, 2015 - Springer
Introduction Alzheimer's disease (AD) is the most dominant neurodegenerative disorder that
causes dementia, and no effective treatments are available. To study its pathogenesis and …

Bidirectional links between Alzheimer's disease and Niemann–Pick type C disease

M Malnar, S Hecimovic, N Mattsson… - Neurobiology of disease, 2014 - Elsevier
Alzheimer's disease (AD) and Niemann–Pick type C (NPC) disease are progressive
neurodegenerative diseases with very different epidemiology and etiology. AD is a common …

Aging in the canine and feline brain

CH Vite, E Head - Veterinary Clinics: Small Animal Practice, 2014 - vetsmall.theclinics.com
This article reviews canine and feline brain aging. Several key features are discussed and
compared, including general aging characteristics and neuropathology. Aging dogs and …

Impaired retromer function in Niemann-Pick type C disease is dependent on intracellular cholesterol accumulation

K Dominko, A Rastija, S Sobocanec, L Vidatic… - International journal of …, 2021 - mdpi.com
Niemann-Pick type C disease (NPC) is a rare inherited neurodegenerative disorder
characterized by an accumulation of intracellular cholesterol within late endosomes and …