English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Human sepiapterin reductase (SR) deficiency is an inherited disease caused by  SPR  gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm  lemon  mutant could serve as a model of SR deficiency. A point mutation in the  BmSPR  gene led to a five amino acid deletion at the carboxyl terminus in the  lemon  mutant. In addition, classical phenotypes seen in SR deficient patients were observed in the  lemon  mutant, including a normal phenylalanine level, a decreased dopamine and serotonin content, and an increased neopterin level. A recovery test showed that the replenishment of  l -dopa significantly increased the dopamine level in the  lemon  mutant. The silkworm  lemon  mutant also showed negative behavioural abilities. These results suggest that the silkworm  lemon  mutant has an appropriate genetic basis and meets the biochemical requirements to be a model of SR deficiency. Thus, the silkworm  lemon  mutant can serve as a candidate animal model of SR deficiency, which may be helpful in facilitating accurate diagnosis and effective treatment options of SR deficiency.

Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency