Results 91 to 100 of about 6,268,347 (286)

Glycolipid lysosomal storage disease in a Morgan foal [PDF]

, 2020
Lysosomal storage diseases are a group of inherited and acquired disorders affecting mammals and birds in which specific substrates accumulate in lysosomes as a result of deficient activity of lysosomal hydrolases.
Lozza, Facundo Andrés, Bellamy, P. D., Barr, B. C., Loretti, A. P., Gimeno, Eduardo Juan, Nordhausen, R. W.   +5 more
core  

Integrative Multi‐Omics Analysis Reveals a Mitochondrial–Immune Axis Associated With Neoadjuvant Chemotherapy Response in High‐Grade Serous Ovarian Cancer

Advanced Science, EarlyView.
Integrative multi‐omics analysis delineates a mitochondrial–immune axis governing neoadjuvant chemotherapy response in high‐grade serous ovarian cancer. Immune‐active tumors exhibit enhanced B‐cell infiltration and favorable sensitivity, whereas metabolically rewired tumors display oxidative phosphorylation dependency and resistance.
Wei Jiang, Yi Wang, Xiaohang Lu, Qianlan Yao, Libing Xiang, Xu Cai, Xiaoyu Tu, Shaoxian Tang, Ying Xu, Yufan Cheng, Liming Shen, Huijuan Yang   +11 more
wiley   +1 more source

Current and emerging management options for patients with Morquio A syndrome

Therapeutics and Clinical Risk Management, 2013
Mohamed F Algahim, G Hossein AlmassiDivision of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, WI, USAAbstract: Morquio A syndrome is a lysosomal storage disease associated with mucopolysaccharidosis. It is caused by a deficiency of the
Algahim MF, Almassi GH
doaj  

Ultrasound‐Activatable Piezoelectric Hydrogel Reprograms Mitochondrial Epigenetics for Osteoarthritis Therapy via the mTOR/GATD3A Axis

Advanced Science, EarlyView.
An ultrasound‐activatable piezoelectric hydrogel reprograms chondrocyte mitochondrial epigenetics via the mTOR/GATD3A axis, clearing damaged mitochondria and alleviating osteoarthritis progression in both mouse models and human cartilage explants. ABSTRACT The avascular nature of cartilage hinders drug delivery for osteoarthritis (OA) therapy.
Hui Zheng, Pengfei Yan, Peng Liu, Chang Yan, Mengqi Zhao, Zuyong Wang, Chao Ma, Rongkai Zhang, Xi Cui, Swee Hin Teoh   +9 more
wiley   +1 more source

TFEB overexpression alleviates autophagy-lysosomal deficits caused by progranulin insufficiency

Scientific Reports
Progranulin is a pro-protein that is necessary for maintaining lysosomal function. Loss-of-function progranulin (GRN) mutations are a dominant cause of frontotemporal dementia (FTD).
Wren O. Nader, Kaylan S. Brown, Nicholas R. Boyle, Azariah K. Kaplelach, Shaimaa M. Abdelaziz, Skylar E. Davis, Qays Aljabi, Ahmad R. Hakim, Amelia G. Davidson, Giacynta A. Vollmer, Leah C. Wright, J. Bailey Echols, Joelle Saad, Nicholas S. Pena, Andrew E. Arrant   +14 more
doaj   +1 more source

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

RPLP2 Mediates the Beneficial Effects of Exercise on Stress Resistance Through Muscle–Brain Communication

Advanced Science, EarlyView.
A novel exercise‐inducible myokine acidic ribosomal protein P2 (RPLP2), initially identified from human trials, is presented here, whose circulating levels negatively correlate with clinical anxiety severity. Muscle‐derived RPLP2 enhances hippocampal ribosomal assembly and adult neurogenesis to rescue stress‐induced anxiety deficits.
Peiyu Luo, Wei Wu, Huan Peng, Dan He, Yuxi Guo, Boyue Zhao, Xiaodan Wang, Li Ma, Yuhang Qin, Yifang Zhai, Lixia Zhuo, Ying Zhang, Yijie Guo, Linlin Jing, Fangyao Chen, Erfei Zhang, Wei Wang, Xiancang Ma, Yan Li   +18 more
wiley   +1 more source

Gaucher disease mouse models: point mutations at the acid β-glucosidase locus combined with low-level prosaposin expression lead to disease variants

Journal of Lipid Research, 2005
Gaucher disease is a common lysosomal storage disease caused by a defect of acid β-glucosidase (GCase). The optimal in vitro hydrolase activity of GCase requires saposin C, an activator protein that derives from a precursor, prosaposin.
Ying Sun, Brian Quinn, David P. Witte, Gregory A. Grabowski   +3 more
doaj   +1 more source

Cell‐Selective Delivery of RIBOTACs via an Anti‐EGFR Nanobody for Pancreatic Cancer Treatment

Advanced Science, EarlyView.
This study introduces an innovative strategy for the tumor‐selective catalytic degradation of oncogenic non‐coding RNA by interfacing a ribonuclease‐recruiting small molecule (RIBOTAC) with an EGFR‐targeting nanobody via a CTSB (Cathepsin B)‐responsive linker.
Tianli Luo, Yijuan Wang, Dengwang Chen, Yinghan Zhang, Yi Shuai, Hualiang Yao, Tao Jiang, Hang Jiang, Ming Zhong, Xiangeng Wang, Ziwei Wang, Chenchen Xu, Ajay Goel, Hoi Tang MA, Feng Gao, Xin Wang   +15 more
wiley   +1 more source

Pathophysiology of neuropathic lysosomal storage disorders

, 2010
Although neurodegenerative diseases are most prevalent in the elderly, in rare cases, they can also affect children. Lysosomal storage diseases (LSDs) are a group of inherited metabolic neurodegenerative disorders due to deficiency of a specific protein ...
Cinzia Maria Bellettato, BELLETTATO CM, Maurizio Scarpa, SCARPA, MAURIZIO   +3 more
core   +1 more source