Results 101 to 110 of about 3,524,002 (263)

Lysosomal diseases: Overview on current diagnosis and treatment

Genetics and Molecular Biology, 2019
Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function.
Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani   +8 more
doaj   +1 more source

ANGPTL4 Exacerbates Renal Injury in Diabetic Kidney Disease by Impairing Podocyte Lipophagy via Compromised Lysosomal Degradative Function

Advanced Science, EarlyView.
In diabetic kidney disease, elevated podocyte ANGPTL4 is linked to reduced TFEB nuclear localization and compromised lysosomal degradative function. These changes impair podocyte lipophagy and promote lipid‐droplet accumulation and podocyte injury, which may contribute to renal injury progression.
Xiaojing Liu, Shimin Jiang, Zhenkun Yang, Shunlai Shang, Jiayi Li, Guming Zou, Cheng Zhou, Wenge Li   +7 more
wiley   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR, Natalie J. Ward, Ahad A. Rahim, Steven J. Howe, Jerry K.Y.Chan, Suzanne M.K. Buckley, Simon N. Waddington, Tristan R. McKay   +20 more
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A Blood‐Derived Factor Rescues ALS: Platelet Factor 4 Activates OPTN‐Dependent Autophagy to Clear SOD1 Aggregates Independently of PINK1

Advanced Science, EarlyView.
Systemic platelet factor 4 (PF4) is significantly depleted in amyotrophic lateral sclerosis (ALS). Peripheral PF4 replenishment restores central proteostasis by driving OPTN‐dependent, PINK1‐independent selective autophagy in motor neurons. This intervention effectively clears toxic SOD1 aggregates, blunts glial activation, and preserves neuromuscular ...
Qingjian Xie, Yanbo Zhu, Wenhua Jiang, Haobo Xie, Yaojia Li, Mengjie Hu, Kezheng Li, Huan Yu, Yixuan Pan, Chaoyi Jiang, Xueqin Song, Dongsheng Fan, Binbin Deng   +12 more
wiley   +1 more source

An Aggregation‐Induced Polymerization Poly(Disulfide)‐Drug Nanoplatform for Autoimmune Uveitis Therapy via Inhibiting the cGAS‐STING Pathway

Advanced Science, EarlyView.
A cationic poly(disulfide)‐drug nanoplatform (LA/DexP) was developed to treat experimental autoimmune uveitis (EAU). With potent blood‐retinal barrier penetrability, LA/DexP releases DSP in response to high ROS and scavenges cfDNA to inhibit the cGAS‐STING signaling pathway.
Yuelan Wu, Wenbo Geng, Qinjin Dai, Wanyun Zhang, Yuxian Lai, Pei Zhang, Chunjiang Zhou, Yinuo Wang, Qingfeng Cao, Xiang Luo, Yujie Lai, Changwei Huang, Peizeng Yang   +12 more
wiley   +1 more source

Reorganization of Innate Immune Cell Lipid Profiles by Bioinspired Meroterpenoids to Limit Inflammation

Advanced Science, EarlyView.
Resolution pharmacology is an emerging strategy to tackle inflammatory pathologies. Bioinspired meroterpenoids induce a lipid mediator class switch toward inflammation resolution in vitro and in vivo by targeting key nodes in lipid mediator biosynthesis and neutral lipid dynamics.
Lorenz Waltl, David Holubek, Klaus Speck, Raphael Wildermuth, Franz‐Lucas Haut, Stephan Permann, Immanuel Plangger, Christian Steinborn, Zhigang Rao, Danilo D'Avino, Ida Cerqua, Julia Stadler, Fiorentina Roviezzo, Peter Schlenke, Anita Siller, Harald Schennach, Solveigh C. Koeberle, Eva‐Maria Pferschy‐Wenzig, Antonietta Rossi, Thomas Magauer, Andreas Koeberle   +20 more
wiley   +1 more source

USP5 Stabilizes TGFBR1 to Drive Vascular Smooth Muscle Cell Senescence and Atherosclerosis

Advanced Science, EarlyView.
This study reveals that USP5 drives vascular smooth muscle cell senescence and atherosclerosis by stabilizing TGFBR1, suppressing IDH2, and promoting glycolytic reprogramming, identifying the USP5‐TGFBR1‐IDH2 axis as a potential therapeutic target. ABSTRACT Vascular smooth muscle cell (VSMC) senescence contributes importantly to atherosclerotic plaque ...
Xinhai Cui, Yuanlong Hu, Lin Lin, Lei Zhang, Chao Li, Yunlun Li   +5 more
wiley   +1 more source

Effect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease

Molecular Therapy: Methods & Clinical Development
The lysosomal storage disease alpha-mannosidosis (AMD) is caused by a genetic deficiency of lysosomal alpha-mannosidase, leading to the widespread presence of storage lesions in the brain and other tissues.
Jacqueline E. Hunter, Caitlyn M. Molony, Wojciech K. Panek, Charles H. Vite, Sanjeev Chawla, Harish Poptani, John H. Wolfe   +6 more
doaj   +1 more source

Ion‐Driven Regulation of Ca2+ Flow by Ti/Zn Composite Activates ERK/MAPK Signaling and Maintains Mitochondrial Homeostasis to Promote Macrophage‐Mediated Bone Regeneration

Advanced Science, EarlyView.
A 3D‐printed interpenetrating Ti/Zn composite enables sustained Zn2+ release to regulate intracellular Ca2+ redistribution, preserve mitochondrial homeostasis, activate ERK/MAPK signaling, and promote M2 macrophage polarization, thereby enhancing osteoimmune‐mediated bone regeneration and peri‐implant osseointegration.
Wanyi Huang, Qiyue Zhang, Yueyang Qiu, Haocheng Suo, Zengqian Liu, Bing Bai, Qiang Wang, Qing Zhou   +7 more
wiley   +1 more source

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study.

, 2005
Item does not contain fulltextInborn errors of metabolism are rare and laboratories performing diagnostic tests in this field must participate in external quality assurance (EQA) schemes to demonstrate their competence and also to maintain sufficient ...
Diggelen, O.P. van, Wevers, RA, Weykamp, CW, Vries, Ruijter, G.J., Poorthuis, BJHM, Ruijter, G.J.G., van den Berg, I., Berg, I. den, Wevers, R. A., van den Berg, I, Boer, M., Weykamp, C.W., Wevers, R.A., Janssens-Puister, J, Boer, M. de, Niezen-Koning, K.; id_orcid, Niezen-Koning, K., Vries, R. de, Janssens-Puister, J., Poorthuis, B. J. H. M., Niezen-Koning, K.E., de Vries, R., Poorthuis, B.J.H.M., Boer, Marjan, van Diggelen, O. P., Diggelen, Otto, Weykamp, C. W., Ruijter, George, Niezen-Koning, KE, Vries, R.   +30 more
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