Publications by authors named "Hikari Nakamura"

Tyrosinase (Tyr) is a key enzyme in the process of melanin synthesis that occurs exclusively within specialized organelles called melanosomes in melanocytes. Tyr is synthesized and post-translationally modified independently of the formation of melanosome precursors and then transported to immature melanosomes by a series of membrane trafficking events that includes endoplasmic reticulum (ER)-to-Golgi transport, post-Golgi trafficking, and endosomal transport. Although several important regulators of Tyr transport have been identified, their precise role in each Tyr transport event is not fully understood, because Tyr is present in several melanocyte organelles under steady-state conditions, thereby precluding the possibility of determining where Tyr is being transported at any given moment.

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Article Synopsis
  • Inborn errors of immunity (IEI) lead to immune dysfunction, causing increased risks of infections and diseases like cancer, as seen in a consanguineous family with Hodgkin lymphoma and severe immune issues.
  • Family members showed variable weaknesses in natural killer (NK) cells and cytotoxic T cell functions, and genetic analysis revealed harmful variants linked to specific disorders.
  • The study suggests that these genetic variants may worsen immune responses and overall disease severity, highlighting the importance of understanding genetic interactions for effective treatment strategies.
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