Results 131 to 140 of about 2,885,518 (281)

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population. [PDF]

Front Aging Neurosci, 2021
Zhao YW, Pan HX, Liu Z, Wang Y, Zeng Q, Fang ZH, Luo TF, Xu K, Wang Z, Zhou X, He R, Li B, Zhao G, Xu Q, Sun QY, Yan XX, Tan JQ, Li JC, Guo JF, Tang BS.   +19 more
europepmc   +1 more source

USP4‐Dependent CHAF1B Stabilization Regulates Distinct SETDB1 Ubiquitin States Linked to AKT T308 Signaling and Lipogenic Remodeling in HCC

Advanced Science, EarlyView.
USP4 stabilizes CHAF1B by limiting K48‐linked ubiquitination. Stabilized CHAF1B supports UHRF1‐associated K63‐linked SETDB1 ubiquitination and cytoplasmic redistribution, whereas CHAF1B loss favors VHL‐dependent K11‐associated degradative ubiquitination and proteasomal loss of SETDB1.
Saiyan Bian, Yun Tong, Wenkai Ni, Zhangzhi Tang, Weiting Chen, Kexin Ma, Lihan Jiang, Jiayu Shao, Xuyang He, Wenjie Zheng   +9 more
wiley   +1 more source

Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic. [PDF]

Cell, 2021
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Low RLY, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G.   +52 more
europepmc   +1 more source

Lysosomal Storage Diseases: an overview

, 2018
Lysosomal storage diseases (LSDs)are an heterogenous group rare inherited metabolic diseases caused by mutations mutations in proteins critical critical for lysosomal function.FCT PTDC/BIM-MEC/4762/2014N/
Alves, Sandra
core  

Decoding Biomolecular Phase Separation: From Physiological Roles to Pathological Mechanisms and Therapeutic Biomaterials Design

Advanced Science, EarlyView.
This review systematically elaborates on the mechanisms underlying physiological regulation and pathological dysregulation of biomolecular phase separation. It also summarizes advances in phase‑separation‑targeted therapeutic strategies and the design of functional biomaterials inspired by this process.
Jiawei Zhu, Jingbo Dong, Qiufang Gong, Xuejiao Song, Zhifa Shen, Chao Liang   +5 more
wiley   +1 more source

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder. [PDF]

J Inherit Metab Dis, 2022
Hassall S, Smith DM, Rust S, Wittkowski A.   +3 more
europepmc   +1 more source

Mechanically Regulated Secretion: How Physical Forces Instruct the Secretory Pathway and Remodel the Secretome

Advanced Science, EarlyView.
Mechanical cues, including ECM stiffness, stretch, compression, shear stress, and traction forces, remodel trafficking across the secretory pathway, from the ER and Golgi to endolysosomal compartments and the plasma membrane. The resulting secretome reshapes ECM composition and tissue mechanics, establishing feedback loops that support homeostasis or ...
Domenico Russo, Seetharaman Parashuraman, Maria Luigia Maresca, Angela Francesca Dinoi, Alessia Calcagnì, Riccardo Rizzo   +5 more
wiley   +1 more source

Deficiency in NPC2 results in disruption of mitochondria-late endosome/lysosomes contact sites and endo-lysosomal lipid dyshomeostasis

Scientific Reports
Dysfunction of the endo-lysosomal intracellular Cholesterol transporter 2 protein (NPC2) leads to the onset of Niemann–Pick Disease Type C (NPC), a lysosomal storage disorder.
Raffaele Pastore, Lihang Yao, Nathan Hatcher, Martin Helley, Janet Brownlees, Radha Desai   +5 more
doaj   +1 more source

Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation. [PDF]

Mol Ther, 2022
Ahrens-Nicklas RC, Tecedor L, Hall AF, Kane O, Chung RJ, Lysenko E, Marsh ED, Stein CS, Davidson BL.   +8 more
europepmc   +1 more source

Yoda1‐Functionalized Nanozymes Coordinate Piezo1 Activation and Mitochondrial Protection to Reprogram the Diabetic Osteoimmune Micromilieu and Promote Vascularized Bone Repair

Advanced Science, EarlyView.
Diabetic bone defects remain a critical clinical challenge. A 3D‐printed BCPG‐MF@Y scaffold, embedding Yoda1‐functionalized manganese dioxide‐ferritin nanozymes, scavenges mtROS, suppresses the cGAS–STING pathway, and reverses cellular senescence, while Yoda1 activates Piezo1 to direct BMSCs fate to synergistically reprogram the osteoimmune ...
Qing‐Song Deng, Ang Wang, Ren Zhang, Xu‐Ran Li, Po‐Lin Liu, Shu‐Hang He, Zi‐Yin Han, Zhi‐Han Shen, Zhan‐Ying Wei, Chang‐Ru Zhang, Fei Wang, Helen Dawes, Jian Lu, Tong‐He Zhu, Jin‐Zhong Zhao, Shang‐Chun Guo, Shi‐Cong Tao   +16 more
wiley   +1 more source