Results 51 to 60 of about 27,697 (237)

The rapidly evolving view of lysosomal storage diseases

EMBO Molecular Medicine, 2021
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex ...
Giancarlo Parenti, Diego L Medina, Andrea Ballabio   +2 more
doaj   +1 more source

Indole‐3‐Propionic Acid Improves Alveolar Development Impairment via Targeting VAMP8‐mediated SNAREs Complex Formation in Bronchopulmonary Dysplasia

Advanced Science, EarlyView.
This study aims to evaluate the impact of the tryptophan‐derived metabolite indole‐3‐propionic acid (IPA) on lung development and autophagic flux. IPA alleviates hyperoxia‐induced alveolar arrest by promoting autophagosome‐lysosome fusion via inhibition of VAMP8 phosphorylation, which is suggestive of a promising therapeutic target of BPD.
Beibei Wang, Xu Chen, Haowei Xu, Zhiqi Zeng, Keyu Lu, Yu Mao, Qianru Lv, Hui Shi, Song Liu, Xian Shen, Chunyu Yin, Yang Yang, Yan Guo, Xingyun Wang, Rui Cheng   +14 more
wiley   +1 more source

Lysosome

Journal of Inborn Errors of Metabolism and Screening, 2016
Since Christian de Duve first described the lysosome in the 1950s, it has been generally presented as a membrane-bound compartment containing acid hydrolases that enables the cell to degrade molecules without being digested by autolysis.
Ursula Matte BSc, PhD, Gabriela Pasqualim BSc, MSc   +1 more
doaj   +1 more source

XIAP Stabilizes DDRGK1 to Promote ER‐Phagy and Protects Against Noise‐Induced Hearing Loss

Advanced Science, EarlyView.
Mechanism of GAS‐mediated protection against noise‐induced hearing loss (NIHL). Noise exposure activates the ATF4/eIF2α axis, downregulating XIAP and promoting DDRGK1 degradation, thereby inhibiting ER‐phagy and leading to hair cell (HC) death. GAS treatment rescues XIAP and DDRGK1 expression, reactivating ER‐phagy to mitigate HC loss, synaptic damage,
Lin Yan, Yuhua Zhang, Jiawei Du, Yongjun Zhu, Wei Cao, Yongjie Wei, Han Wu, Shiyu Qiu, Shiyi Pan, Lian Chen, Pingping Liang, Renjie Chai, Jianming Yang, Qiaojun Fang   +13 more
wiley   +1 more source

Changes in Angiogenesis and Bone Turnover Markers in Patients with Gaucher Disease Developing Osteonecrosis

Metabolites
Background/Objectives: Patients with Gaucher disease have a high risk of bone disease, with osteonecrosis representing the most debilitating complication. The pathogenesis of osteonecrosis has not been fully elucidated yet, and there is an unmet need for
Simona D’Amore, Kenneth Eric Poole, Uma Ramaswami, Derralynn Hughes, Kathleen Page, Antonio Giovanni Solimando, Angelo Vacca, Timothy Martin Cox, Patrick Deegan   +8 more
doaj   +1 more source

Inhibition of SLC11A1‐Mediated Lysosomal Iron Accumulation in Microglia Promotes Repair Following White Matter Stroke

Advanced Science, EarlyView.
Genetic and pharmacological inhibition of SLC11A1 functioning as an H+/Fe2+ antiporter–mediated lysosomal iron accumulation in microglia promotes lysosomal lumen acidification, increases CTSD expression, enhances lysosomal myelin debris uptake and degradation, and promotes repair following white matter stroke. ABSTRACT White matter stroke (WMS) results
Lingling Qiu, Yajie Zhang, Yushi Tang, Hongli Hu, Ying Zhang, Junwen Xue, Hao Wang, Yecheng Wang, Chunfeng Liu, Jia Jia, Jian Cheng, Yongjun Cao   +11 more
wiley   +1 more source

Targeting the PGRN‐BMP Lysosomal Axis With NPs@PGRN Reverses Immunometabolic Dysfunction in Chronic Septic Arthritis

Advanced Science, EarlyView.
Chronic septic arthritis involves intracellular bacterial persistence and lipid‐immune crosstalk via the PGRN‐BMP lysosomal axis. A dual‐targeting nanoparticle system (NPs@PGRN) restores lysosomal bactericidal function, reduces bacterial burden, and reprograms macrophage immunity, offering a novel therapeutic strategy. ABSTRACT Chronic septic arthritis,
Congsun Li, Jiaqi Fan, Tao Sun, Wushi Cui, Jiaxuan Zou, Weinan Yang, Liang Chen, Jian Xiao, Shicheng Wang, Tao Zhang, Jianqiao Hong, An Liu, Haobo Wu   +12 more
wiley   +1 more source

Single‐Mitochondrion ATP Profiling Directs Discovery of Targetable OXPHOS Dependency in Cancers

Advanced Science, EarlyView.
MitoATP‐nFCM integrates nano‐flow cytometry with fluorogenic probes (ATP/membrane potential) and antibodies to quantify mitochondrial metabolites and protein expression at single‐organelle resolution, exposing oxidative phosphorylation (OXPHOS)‐driven metabolic rewiring in cancers.
Xu Xiao, Cheng Lu, Hao Chen, Jing Zhou, Yunyun Hu, Haonan Di, Guoqiang Su, Xiaomei Yan   +7 more
wiley   +1 more source

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source

Treatment of lysosomal storage disorders

BMJ, 2003
Increased awareness and diagnosis are important as treatment is now feasible The lysosomal storage disorders have hitherto justifiably been consigned to the small print sections of textbooks of biochemistry and internal medicine and optional modules of the undergraduate medical curriculum.
Atul B, Mehta, Susan, Lewis, Christine, Laverey   +2 more
openaire   +3 more sources