We previously discovered that a de novo variant p.R528W in ATAD3A, encoding a mitochondrial membrane-anchored protein, causes a human neurological syndrome. While ATAD3A mutations induce aberrant lysosomal expansion accompanied by undigested material in the lysosomes, how mutant ATAD3A disrupts lysosomal homeostasis an...
Matthew B. McDougal, Abigail Sandoval, M. Kinter et al.· bioRxiv· 0 citations
Neurons in the aging brain experience sustained inflammatory, proteostatic, and genotoxic stress, accompanied by the accumulation of non-canonical nucleic acid structures such as G-quadruplexes (G4s). Using a G4-binding probe and mass spectrometry, we identified the G4 helicase DHX36 enriched in the aged mouse brain, p...
V. J., Rocio Diaz Escarcega, Chun-Feng Tan et al.· Journal of Biological Chemis...· 0 citations
HUWE1 (HECT, UBA, and WWE domain-containing protein 1) is an X-linked E3 ubiquitin ligase that regulates a broad range of substrates through both degradative and non-degradative ubiquitination. The essential role of HUWE1 is underscored by the neonatal lethality of Huwe1 knockout mice. Although HUWE1 has been extensive...
Rocio Diaz Escarcega, M. J. Vijay Kumar, Azeez Abdul et al.· Molecular and cellular neuro...· 0 citations
INTRODUCTION Alzheimer’s disease (AD) disproportionately affects women, but the underlying mechanisms are not fully understood. We compare sex-specific molecular changes across AD with and without dementia at single-cell resolution. METHODS We performed sex-stratified single-nucleus transcriptomic analysis of human AD...
