Matches in SemOpenAlex for { <https://semopenalex.org/work/W4384819152> ?p ?o ?g. }
- W4384819152 abstract "Bachmann-Bupp syndrome (BABS) is a neurodevelopmental disorder characterized by developmental delay, hypotonia, and varying forms of non-congenital alopecia. The condition is caused by 3'-end mutations of the ornithine decarboxylase 1 (ODC1) gene, which produce carboxy (C)-terminally truncated variants of ODC, a pyridoxal 5'-phosphate-dependent enzyme. C-terminal truncation of ODC prevents its ubiquitin-independent proteasomal degradation and leads to cellular accumulation of ODC enzyme that remains catalytically active. ODC is the first rate-limiting enzyme that converts ornithine to putrescine in the polyamine pathway. Polyamines (putrescine, spermidine, spermine) are aliphatic molecules found in all forms of life and are important during embryogenesis, organogenesis, and tumorigenesis. BABS is an ultra-rare condition with few reported cases, but it serves as a convincing example for drug repurposing therapy. α-Difluoromethylornithine (DFMO, also known as eflornithine) is an ODC inhibitor with a strong safety profile in pediatric use for neuroblastoma and other cancers as well as West African sleeping sickness (trypanosomiasis). Patients with BABS have been treated with DFMO and have shown improvement in hair growth, muscle tone, and development." @default.
- W4384819152 created "2023-07-21" @default.
- W4384819152 creator A5014829476 @default.
- W4384819152 creator A5037191216 @default.
- W4384819152 creator A5039810760 @default.
- W4384819152 creator A5039963687 @default.
- W4384819152 creator A5045660139 @default.
- W4384819152 date "2023-07-19" @default.
- W4384819152 modified "2023-10-17" @default.
- W4384819152 title "Bachmann–Bupp syndrome and treatment" @default.
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