Results 71 to 80 of about 27,697 (237)

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

Newborn Screening for Lysosomal Storage Disorders in Belgium

Journal of Inborn Errors of Metabolism and Screening, 2017
Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe ...
Francois Eyskens MD, PhD, Sylvie Devos PhD   +1 more
doaj   +1 more source

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders

Molecular Genetics and Metabolism Reports, 2018
Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs).
Christian J. Hendriksz, Paul Harmatz, Roberto Giugliani, Jane Roberts, G. Suren Arul   +4 more
doaj   +1 more source

Microfluidic‐Driven Lipid Nanoparticles for Improved miRNA Delivery via Endo‐Lysosomal Trafficking Optimization

Advanced Science, EarlyView.
This study investigates the impact of various post‐processing methods (filtration, sonication, dialysis, and heating) on lipid nanoparticles produced using microfluidics. The nanoparticles are designed for efficient delivery of miRNA into cells. The work highlights how processing conditions influence nanoparticle stability and quality, providing ...
Alicja Kosik‐Kozioł, Michał Pruchniewski, Daniel Rybak, Piotr Jenczyk, Karolina Zakrzewska, Magdalena Bartolewska, Sławomir Błoński, Paweł Nakielski, Filippo Pierini   +8 more
wiley   +1 more source

Integrative Approaches to Treating Cellular Senescence in Kidney Disease

Advanced Science, EarlyView.
ABSTRACT Cellular senescence in the kidney plays a crucial role in the progression of acute kidney injury and chronic kidney disease. Therapeutic approaches targeting senescent cells, such as small molecule senolytic and senomorphic drugs, display efficacy in preclinical models.
Tomoka Misawa, Amruta A, LaTonya J. Hickson, Joy Wolfram   +3 more
wiley   +1 more source

Inhibition of PIKfyve Leads to Lysosomal Disorders via Dysregulation of mTOR Signaling

Cells
PIKfyve is an endosomal lipid kinase that synthesizes phosphatidylinositol 3,5-biphosphate from phosphatidylinositol 3-phsphate. Inhibition of PIKfyve activity leads to lysosomal enlargement and cytoplasmic vacuolation, attributed to impaired lysosomal ...
Jianhong Xia, Haiyun Wang, Zhihang Zhong, Jun Jiang   +3 more
doaj   +1 more source

ACSL1‐Dependent Microglial Lipoimmunometabolic Reprogramming Underlies Cognitive Deficits in Alcohol Use Disorder

Advanced Science, EarlyView.
This study reveals that chronic alcohol exposure selectively upregulates ACSL1 expression in prefrontal cortical microglia, driving lipid metabolism reprogramming and lipid droplet accumulation, which activates the NLRP3 inflammasome and sustains neuroinflammation. To reverse this process, a dual‐targeted lipid nanoparticle, siACSL1@LNP‐MR, is designed
Liang Hao, Xing‐Rui Cao, Bai‐Qiang Li, Fu‐Ying Zhao, Jia‐Mei Wang, Rui‐Kang Gao, Zhi‐Peng Cao, Zhen‐Xian Du, Hua‐Qin Wang   +8 more
wiley   +1 more source

T Cell Exhaustion in Cancer Immunotherapy: Heterogeneity, Mechanisms, and Therapeutic Opportunities

Advanced Science, EarlyView.
T cell exhaustion limits immunotherapy efficacy. This article delineates its progression from stem‐like to terminally exhausted states, governed by persistent antigen, transcription factors, epigenetics, and metabolism. It maps the exhaustion landscape in the TME and proposes integrated reversal strategies, providing a translational roadmap to overcome
Yang Yu, Xiaoyu Yao, Qingyang Wang, Mengrui Yang, Runze Li, Jiangjiang Qin, Jing Zhuang, Changgang Sun   +7 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

Lysosomal storage disorders: Present and future [PDF]

Indian Pediatrics, 2015
ysosomal storage disorders (LSDs) is a group of more than 50 single gene disorders caused by deficiencies of any of the glycoprotein acid hydrolase enzymes. Lysosomes are intracellular organelles serving important functions of breakdown of large molecules and helping in their disposal.
openaire   +2 more sources