Results 91 to 100 of about 8,108 (242)

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  

Recent advances in gene therapy for lysosomal storage disorders

, 2015
David PW Rastall,1 Andrea Amalfitano1,2 1Department of Microbiology and Molecular Genetics, 2Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA Abstract: Lysosomal storage disorders (LSDs) are a ...
Amalfitano A, Rastall DP
core  

Microglia‐Targeted Biomimetic Tetrahedral Framework Nucleic Acid Nanovesicles for Synergistic Treatment of Sepsis‐Associated Encephalopathy

Advanced Science, EarlyView.
Sepsis‐associated encephalopathy (SAE) lacks effective therapies. We developed ME@FDsi, a biomimetic nanodrug using a tetrahedral framework nucleic acid to deliver disulfiram and siTNFα. It crosses the blood‐brain barrier, targets M1 microglia, inhibits pyroptosis and inflammation, and scavenges ROS.
Huimin Shi, Qiuxia Gao, Wenying Wang, Bin Li, Yukun Chen, Zhijun Yao, Yujie Li, Junrui Li, Na Li, Gong Gu, Zhimin Hou, Mengyuan Yang, Ruilin Zhang, Hongju Yang, Yuhui Liao, Hongyi Lei   +15 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

Lysosomal Lipid Storage Disease from the Perspective of General Pediatricians

, 2016
Lizozomal lipid depo hastalıkları, lipid moleküllerinin katabolizmasında görevli enzimlerin eksikliği veya hücre içi taşınma kusurları sonucu meydana gelmektedir.
Ucar, Sema Kalkan, Beyhan Özkaya, Canda, Ebru Erbas, Sema Uçar Kalkan, Ozkaya, Beyhan, Ebru Canda Erbaş   +5 more
core   +1 more source

Lilrb4a Suppression Reprograms Microglia to Mitigate APOE4‐Associated Amyloid Plaques and Cerebral Amyloid Angiopathy in Association With a PPAR‐Linked Pro‐Clearance State

Advanced Science, EarlyView.
Targeting Lilrb4a in Apolipoprotein E4 (APOE4)‐associated Alzheimer's disease (AD) reprograms microglia toward a beneficial, phagocytic state. Genetic deletion or antisense inhibition of Lilrb4a suppresses p‐SHP2/NF‐κB/STAT1 signaling, restores PPAR‐linked lipid and energy metabolism, and reduces amyloid plaque burden and cerebral amyloid angiopathy ...
Changxu Nie, Ruixi Yang, Xiaotong Wang, Ping Jia, Xueqi Zhang, Yaqi Dai, Xue Bai, Sijia Duan, Yufeng Li, Peng Zheng, Xin Tian, Li Jiang, Chao Wang   +12 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

Prevalence of lysosomal storage disorders

, 1999
CONTEXT: Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some ...
Hopwood, J., Clague, A., Meikle, P., Carey, W.   +3 more
core   +1 more source

Spontaneous Non‐Catalyzed Molecular Reactions and Interactions in the Human Body: Biomedical Implications

Advanced Science, EarlyView.
ABSTRACT The human body functions as a natural reactor for a vast network of chemical and biological reactions and physical interactions among small molecules, proteins, cells, and numerous other components. These reactions/interactions are essential for maintaining normal physiological functions.
Yuhao Cai, Chao Zhao
wiley   +1 more source