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Rab40 proteins are an atypical subgroup of Rab GTPases containing a unique suppressor of the cytokine signaling (SOCS) domain that is recruited to assemble the CRL5 E3 ligase complex for proteolytic regulation in various biological processes. A nonsense mutation deleting the C-terminal SOCS box in the RAB40B gene was identified in a family with axonal peripheral neuropathy (Charcot-Marie-Tooth disease type 2), and pathogenicity of the mutation was assessed in model organisms of zebrafish and Drosophila . Compared to control fish, zebrafish larvae transformed by the human mutant hRAB40B-Y83X showed a defective swimming pattern of stalling with restricted localization and slower motility. We were consistently able to observe reduced labeling of synaptic markers along neuromuscular junctions of the transformed larvae. In addition to the neurodevelopmental phenotypes, compared to normal hRAB40B expression, we further examined ectopic expression of hRAB40B-Y83X in Drosophila to show a progressive decline of locomotion ability. Decreased ability of locomotion by ubiquitous expression of the human mutation was reproduced not with GAL4 drivers for neuron-specific expression but only when a pan-glial GAL4 driver was applied. Using the ectopic expression model of Drosophila , we identified a genetic interaction in which Cul5 down regulation exacerbated the defective motor performance, showing a consistent loss of SOCS box of the pathogenic RAB40B. Taken together, we could assess the possible gain-of-function of the human RAB40B mutation by comparing behavioral phenotypes in animal models; our results suggest that the mutant phenotypes may be associated with CRL5-mediated proteolytic regulation.

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Arcuate nucleus of the hypothalamus : anatomy, physiology, and diseases Juhyun Song, Seok-Yong Choi p. 371-386

Distinct role of parvalbumin expressing neurons in the reticular thalamic nucleus in nociception Sanggeon Park, Jeiwon Cho, Yeowool Huh p. 387-394

Mapping astrocytic and neuronal μ-opioid receptor expression in various brain regions using MOR-mCherry reporter mouse Woojin Won, Daeun Kim, Eunjin Shin, C. Justin Lee p. 395-409
Peripheral neuropathy and decreased locomotion of a RAB40B mutation in human and model animals Wonseok Son, Hui Su Jeong, Da Eun Nam, Ah Jin Lee, Soo Hyun Nam, Ji Eun Lee, Byung-Ok Choi, Ki Wha Chung p. 410-422

Temperature-induced artifacts in tau phosphorylation : implications for reliable Alzheimer’s disease research Geoffrey Canet, Emma Rocaboy, Francis Laliberté, Emmanuelle Boscher, Isabelle Guisle, Sofia Diego-Diaz, Parissa Fereydouni-Forouzandeh, Robert A. Whittington, Sébastien S. Hébert, Vincent Pernet, Emmanuel Planel p. 423-440
Cerebral cavernous malformation (CCM)-like vessel lesion in the aged ANKS1A-deficient brain Jiyeon Lee, Haeryung Lee, Miram Shin, Soochul Park p. 441-452

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