PPa1 insufficiency drives lysosomal storage disease and inflammatory macrophage expansion in the bone marrow.
Magdalena G. Grzemska, Luming Chen, Jamie L. Russell…·Evan Nair‐Gill
Author
The University of Texas Southwestern Medical CenterORCID 0000-0002-3639-246XUnclaimed ORCID profile · follow to get notified of new preprints
6 papers
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Magdalena G. Grzemska, Luming Chen, Jamie L. Russell…·Evan Nair‐Gill
Le Xiao, Magdalena G. Grzemska, Xiong Pi…·Evan Nair‐Gill
This paper presents the cryo-EM structure of the Pacs1-Wdr37 complex, revealing its assembly mechanism and stability, and identifies a mutation linked to neurodevelopmental syndrome.
Ran Song, Chigozie Ngoka, Amika Singla…·Emre E. Turer
This study identifies the Rab32-LRMDA-Retriever complex as essential for endolysosomal trafficking in innate immune cells, maintaining intestinal immune homeostasis.
Nagesh Peddada, Xue Yun Zhong, Yan Yin…·Bruce Beutler
This study reveals how MIDN enhances proteasome activity through cryo-EM structures showing its binding to proteasomes and substrates in two conformational states.
Vikram Jakkamsetti, Qian Ma, Gustavo Angulo…·Juan M. Pascual
The paper identifies mutations affecting motor learning and locomotion in mice by screening 36,444 germline mutations and analyzing their impact on motor performance.
Darui Xu, Stephen Lyon, Chun Hui Bu…·Bruce Beutler
Candidate Explorer identifies causative mutations for immune phenotypes by integrating multiple data features into a score, improving mutation-phenotype association verification in mice.