Regulation of glucose and lipid metabolism in health and disease
Glucose and fatty acids are the major sources of energy for human body. Cholesterol, the
most abundant sterol in mammals, is a key component of cell membranes although it does …
most abundant sterol in mammals, is a key component of cell membranes although it does …
Clinical gene therapy for neurodegenerative diseases: past, present, and future
Clinical gene therapy has made important advances over the last decade. Among
neurological diseases, severe genetic neurodegenerative conditions have been the focus of …
neurological diseases, severe genetic neurodegenerative conditions have been the focus of …
Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses
JM Levy, WH Yeh, N Pendse, JR Davis… - Nature biomedical …, 2020 - nature.com
The success of base editors for the study and treatment of genetic diseases depends on the
ability to deliver them in vivo to the relevant cell types. Delivery via adeno-associated viruses …
ability to deliver them in vivo to the relevant cell types. Delivery via adeno-associated viruses …
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 …
Sphingolipid lysosomal storage diseases: from bench to bedside
Abstract Johann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late
nineteenth century, but it was only in the past fifty years that SL research surged in …
nineteenth century, but it was only in the past fifty years that SL research surged in …
AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann–Pick type C1 disease
MP Hughes, DA Smith, L Morris… - Human Molecular …, 2018 - academic.oup.com
Niemann–Pick type C disease (NP-C) is a fatal neurodegenerative lysosomal storage
disorder. It is caused in 95% of cases by a mutation in the NPC1 gene that encodes NPC1 …
disorder. It is caused in 95% of cases by a mutation in the NPC1 gene that encodes NPC1 …
[HTML][HTML] Challenges in adeno-associated virus-based treatment of central nervous system diseases through systemic injection
Adeno-associated virus (AAV) vector, an excellent gene therapy vector, has been widely
used in the treatment of various central nervous system (CNS) diseases. Due to the …
used in the treatment of various central nervous system (CNS) diseases. Due to the …
The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease
N Hammond, AB Munkacsi, SL Sturley - Biochimica et Biophysica Acta …, 2019 - Elsevier
Abstract Niemann-Pick type C (NP-C) disease is a rare and fatal neurodegenerative disease
typified by aberrations in intracellular lipid transport. Cholesterol and other lipids accumulate …
typified by aberrations in intracellular lipid transport. Cholesterol and other lipids accumulate …
Microglia activation in Niemann–Pick disease, type C1 is amendable to therapeutic intervention
A Cougnoux, RA Drummond, AL Collar… - Human molecular …, 2018 - academic.oup.com
Niemann–Pick disease, type C1 (NPC1) is a neurodegenerative disorder with limited
treatment options. NPC1 is associated with neuroinflammation; however, attempts to …
treatment options. NPC1 is associated with neuroinflammation; however, attempts to …
TRPMLs and TPCs: Targets for lysosomal storage and neurodegenerative disease therapy?
E Krogsaeter, AS Rosato, C Grimm - Cell Calcium, 2022 - Elsevier
Neurodegenerative diseases (ND) pose a serious health burden to society and healthcare
systems alike, with increasing incidence rates especially within aging populations …
systems alike, with increasing incidence rates especially within aging populations …