Results 121 to 130 of about 2,687,044 (278)

Unsheathing new insights into lysosomal storage disorders

Disease Models & Mechanisms, 2023
Kirsty M. Hooper
doaj   +1 more source

Lysosomal storage disorders: from basic science to public health

, 2013
According to the first Principle of the Ethical Practice of Public Health by the Public Health Leadership Society, “Humans have a right to the resources necessary for health.” When dealing with rare inheritable conditions, oftentimes disease mechanisms ...
Labilloy, Anatália
core  

AI‐Designed TREM1‐Targeted LYTAC Nanoparticles Reprogram the Neuroimmune Microenvironment in Traumatic Brain Injury

Advanced Science, EarlyView.
AI‐enabled de novo design of a TREM1 binder, integrated into a BBB‐crossing and macrophage‐targeted nanoplatform, enables TREM1 degradation and attenuates neuroinflammation, thereby promoting neuroprotection and tissue repair after traumatic brain injury. ABSTRACT Secondary neuroinflammation drives progressive damage after traumatic brain injury (TBI),
Yimin Huang, Yuan Liu, Huan Peng, Yu Ni, Zhengqiao Jiang, Chenxuan Yu, Xincheng Zhang, Huayu Kang, Yanchao Liu, Juan Chen, Kai Zhao, Lin Han, Xin Zou, Kai Shu, Xiaochuan Wang, Jian‐Zhi Wang, Ting Lei, Chao Gan, Jianfeng Liu, Huaqiu Zhang   +19 more
wiley   +1 more source

Targeted‐Penetrating Biomimetic Hybrid Transfersomes for Enhanced Transdermal Gene Transfection in Hypertrophic Scar Therapy

Advanced Science, EarlyView.
Hypertrophic scar fibroblasts membrane‐hybridized cationic transfersomes enable efficient loading and transdermal delivery of TGF‐β1 siRNA through multiple skin penetration pathways. The biomimetic platform enhances homotypic targeting, transfection, and immune evasion, suppresses TGF‐β1‐driven fibrotic signaling, and reduces extracellular matrix ...
Hui Xing, Ziyi Zhao, Yuhui Yang, Yichen Lin, Yinglin Xuan, Ziyang Wang, Kai Lv, Xiaoxu Zhu, Zhi Zhang, Dong Ma   +9 more
wiley   +1 more source

Splicing therapeutics for patients affected by lysosomal storage disorders [PDF]

, 2017
In this study, we have used a modified U1 snRNA that completely matches the splice donor site of HGSNAT gene exon 2, which corrected the effect of the common 5’ splice site mutation c.234+1G>A in Mucopolysaccharidosis IIIC.
Pérez, Belén, Alves, Sandra, Matos, Liliana, Gonçalves, Vânia, Jordan, Peter, Canals, Isaac, Grinberg, Daniel, Prata, Maria João   +7 more
core  

Magnetoreceptor Promotes Hepatocellular Carcinoma Development and Blunts Sorafenib‐Induced Ferroptosis by Regulating Iron Homeostasis

Advanced Science, EarlyView.
Magnetoreceptor (MagR) regulates iron homeostasis and mitochondrial function in hepatocellular carcinoma (HCC) cells. Specifically, MagR deficiency suppresses tumor cell proliferation, migration, and invasion and enhances sorafenib‐induced ferroptosis through iron accumulation.
Tao Wang, Chenghua Song, Xin He, Mengzhou Wang, Wuming Liu, Xiaolin Wang, Yuanyuan Zhang, Jia Zhang, Lin Zhang, Dan Li, Yu Zhang, Zheng Wu, Yi Lyu, Rongqian Wu   +13 more
wiley   +1 more source

Lysosomal storage diseases

, 2012
Individually, lysosomal storage disorders are rare genetic diseases. However, as a group, they are relatively common and represent an important health problem.
Adenegan, Adesola Idowu
core   +1 more source

Huntingtin Aggregate‐Responsive Autophagy Gene Circuit Mitigates Disease Pathology in R6/2 Mice

Advanced Science, EarlyView.
CD98‐mediated receptor‐mediated transcytosis enables LIP‐CD98 nanocarriers to cross the blood–brain barrier and deliver ARAA to neurons. mHTT aggregates activate the 11G–NarX sensor, initiating Auto‐P and Trans‐P signaling through the VP48–NarL relay.
Jie Zhu, Xi‐xiu Xie, Lei Li, Chen Tian, Hao‐tian Wang, Xiao‐jie Wang, Xiao‐lin Yu, Gui‐feng Zhang, Rui‐tian Liu   +8 more
wiley   +1 more source

A Block of Autophagy in Lysosomal Storage Disorders

, 2008
Most lysosomal storage disorders (LSDs) are caused by deficiencies of lysosomal hydrolases. While LSDs were among the first inherited diseases for which the underlying biochemical defects were identified, the mechanisms from enzyme deficiency to cell ...
RUBINSZTEIN DC, VENTURI C, MEDINA SANABRIA, Diego Luis, FRALDI A, SPAMPANATO C, JAHREISS L, SETTEMBRE C, DE PABLO R, A. BALLABIO, TACCHETTI C   +9 more
core  

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