Results 81 to 90 of about 21,986 (247)

Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis

Pediatrics and Neonatology, 2013
Niemann–Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/
Ozge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, Zuhal Akcoren, Aysel Yuce, Heiko Runz, Miriam Stampfer, Murat Yurdakok   +7 more
doaj   +1 more source

Hemoglobin's α‐Helix‐to‐β‐Sheet Transition Enables Targeted mRNA Delivery to the Lung

Advanced Science, EarlyView.
Acidic heating converts hemoglobin into β‐sheet‐rich fibrils with positively charged surfaces. These hemoglobin fibrils electrostatically complex IL‐11 scFv mRNA, selectively bind circulating platelets, and hitchhike to the lung, where they are enriched in fibroblasts.
Xihua Liu, Saiya Li, Guodong Wu, Shuangjian Li, Long Shuang Huang, Xiaoyang Li, Yiguo Zhao, Wei Lu, Cuixia Sun, Qin Cao, Yapeng Fang, Yiping Cao   +11 more
wiley   +1 more source

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina

Journal of Inborn Errors of Metabolism and Screening, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Paula A Rozenfeld PhD, Romina Ceci Bioc, Norma Roa Lic, Isaac Kisinovsky MD   +3 more
doaj   +1 more source

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj   +1 more source

Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

Nature Communications, 2020
Gaucher disease is a lysosomal storage disorder caused by insufficient glucocerebrosidase expression. Here, the authors describe a CRISPR/Cas9-based gene-editing approach to re-express this enzyme in human blood stem cells and show that they can engraft ...
Samantha G. Scharenberg, Edina Poletto, Katherine L. Lucot, Pasqualina Colella, Adam Sheikali, Thomas J. Montine, Matthew H. Porteus, Natalia Gomez-Ospina   +7 more
doaj   +1 more source

Cholesterol Laundry of Cell Membrane and Fatty Liver by Detergent Liposomes to Improve Anti‐Cancer Drug Responsiveness of Patient Liver Tissues

Advanced Science, EarlyView.
Cholesterol‐enriched plasma membranes in hepatocellular carcinoma impede drug penetration. Cholesterol (+)‐liposomes act as membrane‐specific detergents, extracting cholesterol and reducing barrier function without cytotoxicity. Following endocytosis, cholesterol transfers from endosomes to liposomes and is metabolized in the ER.
Chansik Kim, Joo Kyung Noh, Sewoom Baek, Seung Eun Yu, Jueun Kim, Seongyo Lee, Youngji Oh, Dai Hoon Han, Seyong Chung, Hak‐Joon Sung   +9 more
wiley   +1 more source

Targeting the HSPA8‐CMA‐ATP6V1A Axis Triggers Lysosomal Hyperacidification and Catastrophic Vacuolation in Prostate Cancer

Advanced Science, EarlyView.
Our experimental evidence supports a model in which ALO targets the HSPA8‐CMA‐ATP6V1A axis to induce lysosomal hyperacidification and initiate osmotic and lipidomic stress. These changes are associated with LMP and loss of lysosomal integrity in prostate cancer cells.
Bingzheng An, Ze Gao, Shuo Chen, Liwei Meng, Chen Zhang, Kefan Song, Haochen Cui, Lei Yan, Zhiqing Fang   +8 more
wiley   +1 more source

Purifying and profiling lysosomes to expand understanding of lysosomal dysfunction–associated diseases

The Journal of Clinical Investigation
Lysosome storage dysfunction plays a central role in numerous human diseases, but a lack of appropriate tools has hindered lysosomal content profiling in clinical settings. In this issue of the JCI, Saarela et al. introduce a method called tagless LysoIP
Ali Shilatifard, Issam Ben-Sahra
doaj   +1 more source

Biomimetic Macrophage Cell Membrane‐Based Nanoparticles for Effective Treatment of Glioblastoma Through Boron Neutron Capture Therapy Combined With Immunotherapy

Advanced Science, EarlyView.
ABSTRACT Glioblastoma multiforme (GBM) remains largely incurable due to the blood‐brain barrier (BBB) and immunosuppressive microenvironment. While boron neutron capture therapy (BNCT) selectively eradicates tumor cells via 10B(n, α)‐7Li reactions, its clinical potential in GBM is unrealized because of the suboptimal pharmacokinetics of conventional ...
Jiawen Chen, Haoyu You, Hefa Huang, Huihui Chai, Ruize Zhu, Yun Guan, Qisheng Tang, Tianwen Li, Shan Jiang, Houshi Xu, Peng Wang, Yue Wang, Maoyuan Sun, Beining Liu, Zhen Li, Yulai Zeng, Weiqiu Ping, Yanlin Teng, Songlin Yan, Qinghui Li, Long Gu, Tao Sun, Zhifeng Shi   +22 more
wiley   +1 more source

Impact of ER stress and the unfolded protein response on Fabry disease

EBioMedicine
Summary: Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the α-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity.
Malte Lenders, Elisa Rudolph, Eva Brand
doaj   +1 more source