Manasa P Srikanth

TL;DR: A new mechanism contributing to autophagy-lysosomal pathway dysfunction in neuronopathic Gaucher's disease iPSCs is uncovered, and the mTOR complex is identified as a potential therapeutic target in GBA1-associated neurodegeneration.

TL;DR: It is concluded that neuronopathic mutations in GCase lead to neurodevelopmental abnormalities due to a critical requirement of this enzyme for canonical Wnt/β-catenin signaling at early stages of neurogenesis.

TL;DR: It is concluded that normal GCase enzymatic activity is required for the differentiation and bone-forming activity of osteoblasts and the rescue of bone matrix deposition by pharmacological activation of Wnt/β catenin in GD osteoblast uncovers a new therapeutic target for the treatment of bone abnormalities in GD.

TL;DR: In this article, the authors used human induced pluripotent stem cell-derived neurons from Gaucher disease (nGD) patients to identify the mechanisms involved in lysosomal storage disorder caused by mutations in GBA1.

TL;DR: In this article, a model integrating both new and established mechanically and hormonally activated effectors into the regulated degradation of sclerostin by lysosomes using a mouse forelimb mechanical loading model was presented.