Treatment trials in Niemann-Pick type C disease
| Autor: | Anna Tylki-Szymańska, Agnieszka Ługowska, Dominika Sitarska |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Arimoclomol Neurology Endosome Genetic enhancement Review Article Endosomes Disease Bioinformatics Biochemistry Cellular and Molecular Neuroscience chemistry.chemical_compound Niemann-Pick C1 Protein hemic and lymphatic diseases Miglustat medicine Animals Humans Vorinostat business.industry HP-β-CD nutritional and metabolic diseases Niemann-Pick Disease Type C Niemann-Pick Type C disease Gene Therapy Cholesterol chemistry Therapy Neurology (clinical) Animal studies NPC1 NPC Lysosomes business medicine.drug |
| Zdroj: | Metabolic Brain Disease |
| ISSN: | 1573-7365 0885-7490 |
| DOI: | 10.1007/s11011-021-00842-0 |
| Popis: | Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. It is an autosomal recessive inherited disease that results from mutations in the NPC1 or NPC2 genes. The treatment efforts are focused on the slowing its progression. The only registered drug, devoted for NPC patients is Miglustat. Effective treatment is still under development. NPC disease mainly affects the nervous system, and the crossing of the blood–brain barrier by medicines is still a challenge, therefore the combination therapies of several compounds are increasingly being worked on. The aim of this paper is to present the possibilities in treatment of Niemann-Pick type C disease. The discussed research results relate to animal studies. |
| Databáze: | OpenAIRE |
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