Results 131 to 140 of about 3,523,765 (264)

Purifying and profiling lysosomes to expand understanding of lysosomal dysfunction–associated diseases

The Journal of Clinical Investigation
Lysosome storage dysfunction plays a central role in numerous human diseases, but a lack of appropriate tools has hindered lysosomal content profiling in clinical settings. In this issue of the JCI, Saarela et al. introduce a method called tagless LysoIP
Ali Shilatifard, Issam Ben-Sahra
doaj   +1 more source

The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C. [PDF]

Biochem Soc Trans, 2023
Platt FM.
europepmc   +1 more source

Targeting the NR1D1–IGF2BP2–V‐ATPase Axis With Hybrid Nanovesicles Restores Macrophage Rhythms to Reverse Sepsis‐Induced Immunosuppression

Advanced Science, EarlyView.
Sepsis disrupts immune‐cell rhythms and weakens bacterial clearance. Biomimetic nanovesicles combining erythrocyte and inflammation‐activated macrophage membranes deliver siNR1D1 to dysfunctional macrophages, restoring the NR1D1–IGF2BP2–V‐ATPase pathway, circadian regulation, phagolysosomal acidification, and antimicrobial defense.
Lang Chen, Wenyi Lin, Lang Jiang, Xuehui Gao, Chenyan Yu, Jili Han, Zhenping Liu, Xuefeng Li, Mei He, Chang Li, Qilan Li, Chaoying Song, Jiqian Xu, You Shang   +13 more
wiley   +1 more source

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases. [PDF]

Int J Mol Sci, 2023
Spiewak J, Doykov I, Papandreou A, Hällqvist J, Mills P, Clayton PT, Gissen P, Mills K, Heywood WE.   +8 more
europepmc   +1 more source

Dual pKa Lipid Nanoparticles for Lung‐tropic mRNA Delivery and pH‐Programmed Endosomal Escape

Advanced Science, EarlyView.
Lipid nanoparticles’ bottleneck lies in low endosomal escape efficiency and liver‐dominant delivery after intravenous administration. To overcome these limitations, we present a stepwise pH‐programmed lipid nanoparticle system enabled by our newly synthesized ionizable lipid.
Seong Gi Lim, Minju Lee, Yiming Wang, Eunjin Choi, Ji Sun Park, Kyungmin Park, Hayoung Jeon, Donghyun Kim, Donghyun Lee, Yeeun Lee, Kee‐Pyo Kim, Eunha Kim, Heebeom Koo   +12 more
wiley   +1 more source

COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience. [PDF]

Turk Arch Pediatr, 2023
Yoldaş Çelik M, Canda E, Yazıcı H, Erdem F, Yazıcı Özkaya P, Bal Sahbudak Z, Kalkan Uçar S, Çoker M.   +7 more
europepmc   +1 more source

Macrophage RSAD2 Couples mtDNA Synthesis With a Self‐Amplifying Inflammatory Circuit to Orchestrate Tissue Repair

Advanced Science, EarlyView.
Macrophage RSAD2 dually regulates CMPK2—the rate‐limiting enzyme for mitochondrial DNA synthesis—by suppressing its ubiquitination and promoting its phosphorylation via Csnk2a2 recruitment. This amplifies mtDNA production, which simultaneously activates a cGAS‐STING‐IRF3‐RSAD2 feedforward loop and the NLRP3 inflammasome, driving a self‐sustaining ...
Haomiao Yuan, Shukui Du, Chunfei Li, Xinjie Li, Shuyang Mu, Anran Qu, Hengxu Yan, Chongchong Xu, Jinnong Yang, Jingkai Sun, Yijun Wang, Jiayang Xiao, Fuyuan Zhang, Linlin Wang, Tiegang Li, Rui Zhao, Dawei Guan   +16 more
wiley   +1 more source

Impaired Chaperone‐Mediated Autophagy Accelerates Intervertebral Disc Degeneration by Inducing MIDN Accumulation to Target TSC2 for Proteasomal Degradation

Advanced Science, EarlyView.
This graphical abstract illustrates how chaperone‐mediated autophagy (CMA) regulates intervertebral disc degeneration (IDD). Under normal homeostasis (B), CMA degrades cytoplasmic Midnolin (MIDN) to maintain proteostasis. Under inflammatory stress (A), impaired CMA leads to cytoplasmic MIDN accumulation.
Xianglong Chen, Haiyang Gao, Wang Wu, Pengzhi Shi, Yuhang Chen, Anran Zhang, Zhangrong Cheng, Wenbo Wu, Zimu Yu, Yukun Zhang   +9 more
wiley   +1 more source

OAF Blocks SIAH1‐Mediated Degradation of SCPX, a Therapeutic Strategy for MASLD

Advanced Science, EarlyView.
This study shows OAF directly binds to SCPX and inhibits its interaction with the E3 ligase SIAH1, thereby protecting SCPX from ubiquitin‐dependent degradation and stabilizing its levels. This OAF‐SCPX axis represents a novel pathway in lipid homeostasis, highlighting OAF as a promising therapeutic candidate for MASLD.
Zongxi Li, Jingyue Song, Kaili Ma, Shunan Tang, Shuqian Wang, Wenya Ji, Chen Lu, Ting Zhang, Huaping Zheng, Xiaowei Zheng, Shanshan Lai, Cheng Deng   +11 more
wiley   +1 more source

Gene therapy for lysosomal storage diseases: Current clinical trial prospects. [PDF]

Front Genet, 2023
Kido J, Sugawara K, Nakamura K.
europepmc   +1 more source