Practical murine hematopathology: a comparative review and implications for research
KE O'Connell, AM Mikkola, AM Stepanek… - Comparative …, 2015 - ingentaconnect.com
Hematologic parameters are important markers of disease in human and veterinary
medicine. Biomedical research has benefited from mouse models that recapitulate such …
medicine. Biomedical research has benefited from mouse models that recapitulate such …
Complex lipid trafficking in Niemann-Pick disease type C
Niemann-Pick disease type C (NPC) is an atypical lysosomal storage disease resulting from
mutations in one of two genes, either NPC1 or NPC2. Although a neurovisceral disorder, it is …
mutations in one of two genes, either NPC1 or NPC2. Although a neurovisceral disorder, it is …
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease
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 …
in the NPC1 gene, leading to an increase in unesterified cholesterol and several …
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
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 …
Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin
JE Vance, B Karten - Journal of lipid research, 2014 - ASBMB
Niemann-Pick type C (NPC) disease is a lysosomal storage disease in which endocytosed
cholesterol becomes sequestered in late endosomes/lysosomes (LEs/Ls) because of …
cholesterol becomes sequestered in late endosomes/lysosomes (LEs/Ls) because of …
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 …
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele
M Praggastis, B Tortelli, J Zhang… - Journal of …, 2015 - Soc Neuroscience
Niemann-Pick Type C1 (NPC1) disease is a rare neurovisceral, cholesterol–sphingolipid
lysosomal storage disorder characterized by ataxia, motor impairment, progressive …
lysosomal storage disorder characterized by ataxia, motor impairment, progressive …
Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders
Lysosomes play a central role in cellular homeostasis and alterations in this compartment
associate with many diseases. The most studied example is that of lysosomal storage …
associate with many diseases. The most studied example is that of lysosomal storage …
Lipids in the nervous system: from biochemistry and molecular biology to patho-physiology
Lipids in the nervous system accomplish a great number of key functions, from
synaptogenesis to impulse conduction, and more. Most of the lipids of the nervous system …
synaptogenesis to impulse conduction, and more. Most of the lipids of the nervous system …
Current treatment options and novel nanotechnology-driven enzyme replacement strategies for lysosomal storage disorders
Lysosomal storage disorders (LSDs) are a vast group of more than 50 clinically identified
metabolic diseases. They are singly rare, but they affect collectively 1 on 5,000 live births …
metabolic diseases. They are singly rare, but they affect collectively 1 on 5,000 live births …