Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement

Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by RAB27A mutations that encode RAB27A, a member of the Rab GTPase family. RAB27A is expressed in many tissues and regulates vesicu...

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Detalles Bibliográficos
Autores principales: Ohishi, Yuta, Ammann, Sandra, Ziaee, Vahid, Strege, Katharina, Groß, Miriam, Amos, Carla Vazquez, Shahrooei, Mohammad, Ashournia, Parisa, Razaghian, Anahita, Griffiths, Gillian M., Ehl, Stephan, Fukuda, Mitsunori, Parvaneh, Nima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7758216/
https://www.ncbi.nlm.nih.gov/pubmed/33362801
http://dx.doi.org/10.3389/fimmu.2020.612977

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