Results 91 to 100 of about 42,118 (292)

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

Perturbed cholesterol and vesicular trafficking associated with dengue blocking in Wolbachia-infected Aedes aegypti cells [PDF]

, 2017
Wolbachia are intracellular maternally inherited bacteria that can spread through insect populations and block virus transmission by mosquitoes, providing an important approach to dengue control.
Ant, Thomas H., Charles, Philip D., Dowle, Adam A., Geoghegan, Vincent, Hester, Svenja, Larson, Tony, Rainey, Stephanie M., Sinkins, Steven P., Stainton, Kirsty, Thomas, Benjamin   +9 more
core   +3 more sources

A Nanoparticle‐Integrated Complete Manufacturing Pipeline of Chemically Engineered Exosomes

Advanced Science, EarlyView.
We report a novel manufacture technology of chemically engineered exosomes. The four steps of manufacturing, i.e., biogenesis, loading, isolation, and storage, are integrated by the use of a nanoparticle. The manufacture technology incorporates three innovative components, i.e., a new nano‐bio effect, a new composite nanoparticle, and a new isolation ...
Xiaowei Wen, Zixing Xu, Zerun Hao, Yanming Chen, Kai Xie, Haofan Yin, Xueying Wang, Jie Min, Sihan Sun, Baiding Chen, Chengxiu Ling, Mingming Xu, Yizhao Chen, Gang Ruan   +13 more
wiley   +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

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]

, 2019
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Arrant, Andrew E, Boyle, Nicholas R, Grinberg, Lea T, Hoffmann, Madelyn Q, Kashyap, Shreya N, Miller, Bruce L, Murchison, Charles F, Nana, Alissa L, Ramos, Eliana Marisa, Roberson, Erik D, Roth, Jonathan R, Seeley, William W, Spina, Salvatore   +12 more
core  

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation [PDF]

, 2018
Defects in the MFSD8 gene encoding the lysosomal membrane protein CLN7 lead to CLN7 disease, a neurodegenerative lysosomal storage disorder belonging to the group of neuronal ceroid lipofuscinoses (NCLs). Here we have performed a SILAC-based quantitative
Ariunbat, K, Brocke-Ahmadinejad, N, Danyukova, T, Mole, SE, Storch, S, Thelen, M   +5 more
core   +1 more source

The Regulatory Role of Iron Transporter SLC39A13 in Liver Fibrosis

Advanced Science, EarlyView.
SLC39A13/ZIP13, a newly discovered intracellular iron transporter, delivers iron to the ER/Golgi to catalyze procollagen hydroxylation during collagen maturation. Here, we systematically characterize the cell type‐specific functions of ZIP13 across distinct hepatic cell populations, and identify hepatic stellate cell‐specific ZIP13 as a promising and ...
Shanshan Guo, Yalin Wang, Binyu Lu, Yu Zhang, David M. Frazer, Bing Zhou   +5 more
wiley   +1 more source

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report [PDF]

, 2019
We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in
Bobbert, Thomas, Demuth, Ilja, Haberbosch, Linus, Hollstein, Tim, Kassner, Ursula, Soll, Dominik, Spira, Dominik, Spranger, Joachim, Steinhagen-Thiessen, Elisabeth   +8 more
core   +1 more source

Tetrastigma Hemsleyanum Polysaccharide Suppresses Triple‐Negative Breast Cancer by Disrupting the Hippo‐YAP/TEAD4‐PDIA4 Axis and Endoplasmic Reticulum Stress Adaptation

Advanced Science, EarlyView.
ABSTRACT Triple‐negative breast cancer (TNBC) exhibits addiction to chronic endoplasmic reticulum (ER) stress, which sustains an aggressive metastatic phenotype through activation of the unfolded protein response (UPR). Here, we identify a previously unrecognized “ER‐stress addiction” axis in which the Hippo pathway effector TEAD4 directly ...
Yini Shang, Wentao Si, Youxue Zhang, Jialin Liu, Huaixi Zhang, Yafei Li, Hongmeng Su, Wei Jiang, Zhishan Ding, Lihong Wang   +9 more
wiley   +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