Lukáš Strych

Citation: Kazek M, Chodáková L, Lehr K, Strych L, Nedbalová P, McMullen E, et al. (2024) Glucose and trehalose metabolism through the cyclic pentose phosphate pathway shapes pathogen resistance and host protection in Drosophila. PLoS Biol 22(5): e3002299. https://doi.org/10.1371/journal.pbio.3002299 Academic Editor: Alex P. Gould, The Francis Crick Institute, UNITED KINGDOM Received: July 28, 2023; Accepted: April 12, 2024; Published: May 7, 2024 Copyright: © 2024 Kazek et al.

Abstract We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced the RNA analysis, we were able to reclassify this variant as likely pathogenic. Our results stress the importance of not excluding synonymous variants during prioritization.

Abstract The metabolically demanding nature of immune response requires nutrients to be preferentially directed towards the immune system at the expense of peripheral tissues. We study the mechanisms by which this metabolic reprograming occurs using the parasitoid infection of Drosophila larvae. To overcome such an immune challenge hemocytes differentiate into lamellocytes, which encapsulate and melanize the parasitoid egg.