The Journal of biological chemistry, 293(44), 16953-16963 (2018-09-22)
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare genetic human neurological disorder caused by null mutations to the Abhd12 gene, which encodes the integral membrane serine hydrolase enzyme ABHD12. Although the role that ABHD12 plays in
A role for human N-alpha acetyltransferase 30 (Naa30) in maintaining mitochondrial integrity
Van DP, et al.
Molecular and Cellular Proteomics, 15(11), 3361-3372 (2016)
Peroxisomes are ubiquitous cell organelles involved in many metabolic and signaling functions. Their assembly requires peroxins, encoded by PEX genes. Mutations in PEX genes are the cause of Zellweger Syndrome spectrum (ZSS), a heterogeneous group of peroxisomal biogenesis disorders (PBD).
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern
Lombard-Platet G, et al.
Proceedings of the National Academy of Sciences of the USA, 93(3), 1265-1269 (1996)
The blue-light-responsive LOV2 domain of Avena sativa phototropin1 (AsLOV2) has been used to regulate activity and binding of diverse protein targets with light. Here, we used AsLOV2 to photocage a peroxisomal targeting sequence, allowing light regulation of peroxisomal protein import.
