Results 131 to 140 of about 38,108 (242)

Population Pharmacokinetic/Pharmacodynamic Modeling of Therapeutic Enzymes in Lysosomal Storage Diseases. [PDF]

Clin Pharmacokinet
Barzel I, van der Ploeg AT, Pijnappel WWMP, van der Kuy PHM, van den Hout JMP, Preijers T.   +5 more
europepmc   +1 more source

Novel Fused Pyrazole Amide Analogs as Glucosylceramide Synthase Inhibitors for Treating Lysosomal Storage Diseases, Neurodegenerative Diseases, Cystic Diseases, and Cancer. [PDF]

ACS Med Chem Lett, 2023
Sabnis RW.
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

Nonimmune Hydrops Fetalis and Lysosomal Storage Diseases

Pediatrics and Neonatology, 2013
Carlo Bellini
doaj   +1 more source

Human, economic, and social impact of lysosomal storage diseases. [PDF]

Orphanet J Rare Dis
Brignani E, de Castro-López MJ, Gonzalez-Meneses A, Morales M, Pintos-Morell G, Poveda JL, Vilalta I, Cruz J, Ballester-Lozano GF, David de Paz H.   +9 more
europepmc   +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

Broadening applications for intrathecal gene therapy: a case for lysosomal storage diseases. [PDF]

EBioMedicine
eBioMedicine.
europepmc   +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

Tau Aggregate Imaging and Transcriptomics of Alzheimer's Disease Brain at Different Stages of Disease

Advanced Science, EarlyView.
The protein aggregates and gene expression in the middle temporal gyrus (MTG) and somatosensory cortex (SOM) of the postmortem brains of 13 Alzheimer's disease patients were studied in detail, revealing that small hyperphosphorylated tau aggregates increase with Braak stage driven by microglial inflammation.
Elizabeth A. English, Dorothea Böken, Matthew W. Cotton, Matthew R. Cheetham, Johanna S. Jackson, Georg Meisl, John S. H. Danial, Paul M. Matthews, Nurun N. Fancy, David Klenerman   +9 more
wiley   +1 more source

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, EarlyView.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +2 more sources