Results 101 to 110 of about 2,687,044 (278)

Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program

International Journal of Neonatal Screening
Newborn screening laboratories are increasingly adding lysosomal storage disorders (LSDs), such as Mucopolysaccharidosis I (MPS I) and Pompe disease, to their screening panels. Without newborn screening, LSDs are frequently diagnosed only after the onset
Lacey Vermette, Jon Washburn, Tracy Klug
doaj   +1 more source

Exacerbating and reversing lysosomal storage diseases: from yeast to humans [PDF]

, 2017
Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion.
Tamayanthi Rajakumar, Andrew B. Munkacsi, Stephen L. Sturley   +2 more
core   +1 more source

Quantitative Visualization of Intracellular Nanometabolism Using Peak‐Shifted Dual‐State Emissive FRET Nanoprobes

Advanced Science, EarlyView.
This study reveals the long‐elusive intracellular dissolution mechanism of carrier‐free nanomedicines. By utilizing peak‐shifted dual‐state emissive FRET nanoprobes (PDFNPs) that undergo a distinct ratiometric fluorescence peak shift upon disassembly, we achieve real‐time, quantitative tracking of dissolution kinetics in live cells.
Farsai Taemaitree, Jinwoo Sung, Yutaro Miki, Ryuju Suzuki, Yoshitaka Koseki, Kunikazu Ishii, Minsang Kim, Keita Tanita, Kota Sato, Toru Nakazawa, Satoshi Katsube, Daisuke Unabara, Tasuku Hamaguchi, Keisuke Kawakami, Koji Yonekura, Akihide Hibara, Atsushi Wakamiya, Hiroshi Uji‐I, Hitoshi Kasai   +18 more
wiley   +1 more source

Molecular Glue Degraders Enhance CAPRIN1‐Dependent Lysosomal Degradation of APP and Reduce Amyloid β in Alzheimer's Disease

Advanced Science, EarlyView.
A new class of lysosome‐directed molecular glue degraders selectively enhance CAPRIN1–APP interactions, driving APP degradation and reducing amyloid‐β production in human neurons and Alzheimer's disease mouse models. This CAPRIN1‐dependent targeted protein degradation strategy reveals a previously unrecognized therapeutic approach for disrupting the ...
Sunghan Jung, Xu Wang, Bin Liu, Raktim Roy, Nancy Jaiswal, Ratan K. Rai, Yuichiro Takagi, Cen Gao, Lifan Zeng, Ho‐Yin Lo, Reagan K. Wohlford, Ryan K. Higgins, Bruce T. Lamb, Anantha Shekhar, Anita C. Bellail, Chunhai Hao   +15 more
wiley   +1 more source

Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype

Current Issues in Molecular Biology
Background/Objectives: Fabry disease is an X-linked lysosomal storage disorder. It is characterised by impaired metabolism of glycosphingolipids whose accumulation causes irreversible organ damage and life-threatening complications.
Jatinder Singh, Paramala Santosh, Uma Ramaswami   +2 more
doaj   +1 more source

SIRT7‐Mediated H2BK120 Succinylation Drives Aberrant Mitophagy in Sepsis‐Associated Cognitive Dysfunction

Advanced Science, EarlyView.
Sepsis triggers hippocampal SIRT7 loss, promoting histone H2B succinylation and activation of the PD‐1/PD‐L1–PINK1 axis. This metabolic‐epigenetic cascade drives aberrant mitophagy and neuronal injury, ultimately causing cognitive deficits. Targeting SIRT7‐dependent succinylation offers a potential strategy to protect brain function during sepsis ...
Na Meng, Jiateng Zhou, Xiaoyu Guo, Ting Hong, Xuelian Li, Xingyu Wei, Chanhua Zhang, Xixue Zhang, Songbin Liu, Yulin Zhang, Liangfang Yao, Lina Huang, Weidong Gu   +12 more
wiley   +1 more source

Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon

Molecular Genetics and Metabolism Reports
In October 2018, the Oregon newborn screening program began screening for four lysosomal storage disorders (LSDs) Pompe, Mucopolysaccharidosis Type I (MPSI), Gaucher, and Fabry.
Sarah Viall, Patrice Held
doaj   +1 more source

Multifunctional Nanovaccine‐Radiotherapy Synergy Drives Anti‐Tumor Immunity via Multi‐Cascade Cell Death for Pancreatic Cancer Therapy

Advanced Science, EarlyView.
Machine‐learning‐driven transcriptomic analysis identifies FSTL3 as a key tumor‐microenvironment regulator in desmoplastic pancreatic adenocarcinoma. A cRGD‐modified liposome co‐loading gemcitabine and siFSTL3 serves as an irradiation‐triggered in situ nanovaccine. It synergizes with radiotherapy to induce ferroptosis and immunogenic cell death through
Chengyi Huang, Yushu Han, Xiang Liu, Chuanhao Wang, Xiaofei Zhu, Di Chen, Yangyang Gong, Liang Chen, Wenjuan Chen, Zhenyuan Miao, Bufu Tang, Huojun Zhang   +11 more
wiley   +1 more source

Golgi defect as a major contributor to lysosomal dysfunction

Frontiers in Cell and Developmental Biology
The Golgi apparatus plays a crucial role in lysosome biogenesis and the delivery of lysosomal enzymes, essential for maintaining cellular homeostasis and ensuring cell survival. Deficiencies in Golgi structure and function can profoundly impact lysosomal
Sarah R. Akaaboune, Yanzhuang Wang
doaj   +1 more source

Atlas of lysosomal aging reveals a metabolite signature shared with lysosomal storage disorders

Lysosomal dysfunction is a well-recognized feature of aging. Here, we used a suite of tools for rapid lysosomal isolation to construct a multitissue atlas of the metabolite changes lysosomes undergo during aging.
Andrew L. Cangelosi, Millenia Waite, Justin M. Roberts, David M. Sabatini, Jason Yang, Hans-Georg Sprenger, Andrea Armani, Kristin A. Singh, Caroline A. Lewis, Grace Y. Liu, Jonathan S. Weissman, Tenzin Kunchok, Thao P. Nguyen, Tenzin Tseyang, George W. Bell, James C. Cameron, Steven Lai, Fabian Schulte, William N. Colgan, Jibril F. Kedir, Anna M. Puszynska, Theodore K. Esantsi, Kathrin M. Kajderowicz, Yuancheng Ryan Lu   +23 more
core   +1 more source