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 …
Treatment trials in Niemann-Pick type C disease
D Sitarska, A Tylki-Szymańska, A Ługowska - Metabolic Brain Disease, 2021 - Springer
Abstract Niemann-Pick type C (NPC) disease is a genetically determined
neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its …
neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its …
Lysosomal and mitochondrial liaisons in Niemann-Pick disease
Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid
species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick …
species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick …
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 …
Repurposing vorinostat for the treatment of disorders affecting brain
Based on the findings in recent years, we summarize the therapeutic potential of vorinostat
(VOR), the first approved histone deacetylase (HDAC) inhibitor, in disorders of brain, and …
(VOR), the first approved histone deacetylase (HDAC) inhibitor, in disorders of brain, and …
Animal models for Niemann-Pick type C: implications for drug discovery & development
CK Fog, T Kirkegaard - Expert opinion on drug discovery, 2019 - Taylor & Francis
ABSTRACT Introduction: Niemann-Pick type C (NPC) is a neurovisceral, progressively
detrimental lysosomal storage disease with very limited therapeutic options and no …
detrimental lysosomal storage disease with very limited therapeutic options and no …
[HTML][HTML] Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome
C Africano, T Bachetti, P Uva, G Pitollat… - … Therapy Nucleic Acids, 2024 - cell.com
Congenital central hypoventilation syndrome (CCHS), a rare genetic disease caused by
heterozygous PHOX2B mutations, is characterized by life-threatening breathing …
heterozygous PHOX2B mutations, is characterized by life-threatening breathing …
Understanding and treating niemann–pick type c disease: Models matter
V Pallottini, FW Pfrieger - International Journal of Molecular Sciences, 2020 - mdpi.com
Biomedical research aims to understand the molecular mechanisms causing human
diseases and to develop curative therapies. So far, these goals have been achieved for a …
diseases and to develop curative therapies. So far, these goals have been achieved for a …
Current advancements in therapy for Niemann-Pick disease: Progress and pitfalls
T Bremova-Ertl, S Schneider - Expert opinion on pharmacotherapy, 2023 - Taylor & Francis
ABSTRACT Introduction Niemann-Pick disease type C (NPC) is a rare, autosomal recessive,
lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease …
lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease …
[HTML][HTML] Quantitative analysis of the proteome response to the histone deacetylase inhibitor (HDACi) vorinostat in Niemann-Pick Type C1 disease
Niemann-Pick type C (NPC) disease is an inherited, progressive neurodegenerative
disorder principally caused by mutations in the NPC1 gene. NPC disease is characterized …
disorder principally caused by mutations in the NPC1 gene. NPC disease is characterized …