Results 91 to 100 of about 40,385 (227)

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.

, 2006
Contains fulltext : 50653.pdf (Publisher’s version ) (Open Access)BACKGROUND: At least 20 inborn errors of metabolism may cause hydrops fetalis. Most of these are lysosomal storage diseases. The study proposes a diagnostic flowchart for
Pim M.W. Janssens, Emilia K. Bijlsma, Janssens, Pim M.W., Smits, Arie P.T., Smits, Arie P. T., Janssens, P.M.W., van den Berg, Paul P., van den Berg, Catharina J.M.G., de Groot, Akosua N. J. A., Angelique J.A. Kooper, Catharina J.M.G. van den Berg, Berg, P.P. van den, Bijlsma, E.K., Liebrand-van Sambeek, Maria L.F., Arie P.T. Smits, Wevers, R.A., Kooper, Angelique J. A., Akosua N.J.A. de Groot, Smits, A.P.T., Janssens, Pim M. W., Maria L.F. Liebrand-van Sambeek, Kooper, A.J.A., van den Berg, Catharina J. M. G., Tan-Sindhunata, G.B., Ron A. Wevers, Gita B. Tan-Sindhunata, Berg, C.J.M.G. van den, Liebrand-van Sambeek, M.L.F., Bijlsma, Emilia K., Groot, A.N.J.A. de, Wevers, Ron A., Sambeek, Maria L. F. Liebrand-van, Paul P. van den Berg, Kooper, Angelique J.A., de Groot, Akosua N.J.A., Tan-Sindhunata, Gita B.   +35 more
core   +1 more source

ABHD17C‐Mediated S‐Depalmitoylation of BCL6B Enhances CD24 Transcription to Resist Macrophage Phagocytosis in Pancreatic Cancer

Advanced Science, EarlyView.
ABHD17C‐mediated depalmitoylation of BCL6B at Cys442 blocks its nuclear import and triggers ubiquitin‐dependent degradation, attenuating transcriptional repression of the anti‐phagocytic signal CD24. This mechanism enables pancreatic cancer cells to evade macrophage phagocytosis and fosters an immunosuppressive microenvironment.
Yalu Zhang, Di Cui, Fanzheng Meng, Xu Zhu, Liang Zhu, Liang Wu, Haifeng Hu, Jizhou Wang, Hanhui Yao, Lianxin Liu   +9 more
wiley   +1 more source

The frequency of lysosomal storage diseases in The Netherlands

, 1999
We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970-1996. The combined birth prevalence for all LSDs is
de Jong, J. G., Diggelen, O.P. van, Kleijer, W.J., Wevers, RA, Poorthuis, B. J., Poorthuis, BJHM, van Diggelen, OP, Weely, S. van, Wevers, R. A., Groener, J.E.M., Kleijer, W, Wevers, R.A., de Jong, JGN, van Weely, S., Groener, JEM, Niezen-Koning, K.E., Niezen-Koning, K. E., Groener, J. E., Poorthuis, B.J.H.M., van Diggelen, O. P., Jong, J.G.N. de, Diggelen, Otto, Kleijer, W. J., Kleijer, WJ, Groener, JEM (Johanna), Niezen-Koning, KE; id_orcid, van Weely, S, Niezen-Koning, KE   +27 more
core   +1 more source

Senescent Cell Derived Artificial Vesicle‐Based Senolytic Sonovaccine Platform with Augmented Lymph Node Delivery and Antigen Cross‐Presentation Efficacy

Advanced Science, EarlyView.
A senolytic sonovaccine platform (SenoVac) is developed, in which senescent cell‐derived vesicles serve as broad senescent cell antigen reservior. The “2‐step” click chemistry strategy for effective lymph node delivery, and ultrasound‐triggered endosomal escape to boost cross‐presentation, ensures efficient senescent cell clearance and disease ...
Liang Zhang, Yubo Lai, Jia Wang, Lingling Liu, Jieyuan An, Mi Qu, Yuan Liang, Bijun Tan, Guodong Yang, Xuekang Yang, Lijun Yuan   +10 more
wiley   +1 more source

SIRT6‐Mediated Deacetylation of ATF3 Promotes Silica‐Induced Lung Fibrosis by Enhancing its Nuclear Import via Binding to Importin α

Advanced Science, EarlyView.
SIRT6‐mediated ATF3 acetylation drives MGARP transcription and mitochondrial dysfunction in macrophages, promoting macrophage senescence and pulmonary fibrosis. Mechanistically, HSP70/Importin α competitively binds to ATF3, modulating its nuclear translocation.
Demin Cheng, Wenxia Bu, Fengxu Wang, Yueyuan Jin, Rongzhu Liu, Rui Zhao, Xuehai Wang, Mengna Jiang, Jinping Shen, Xinhang Cheng, Zuming Chen, Li Zhu, Jinlong Li, Zhenzhong Ge, Shichen Miao, Haotian Xu, Xiaoyu Zhou, Dongming Wang, Xinyuan Zhao   +18 more
wiley   +1 more source

Xenogeneic Mitochondrial Transplantation Improves Selected Age‐Associated Phenotypes in Mice

Advanced Science, EarlyView.
Yak‐derived xenogeneic mitochondrial transplantation improves selected age‐associated phenotypes in mice, enhances mitochondrial functional readouts, and engages host mitochondrial quality‐control pathways. Broad tissue biodistribution, increased ATP production and mtDNA copy number, reduced ROS levels and dysfunctional mitochondria, improved motility ...
Wenpeng Li, Xijia Wang, Yaning Hu, Zhen Yang, Tian Niu, Xingbo Zhao   +5 more
wiley   +1 more source

Effect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease

Molecular Therapy: Methods & Clinical Development
The lysosomal storage disease alpha-mannosidosis (AMD) is caused by a genetic deficiency of lysosomal alpha-mannosidase, leading to the widespread presence of storage lesions in the brain and other tissues.
Jacqueline E. Hunter, Caitlyn M. Molony, Wojciech K. Panek, Charles H. Vite, Sanjeev Chawla, Harish Poptani, John H. Wolfe   +6 more
doaj   +1 more source

Heat Shock Protein 90: From Molecular Chaperone Function to Therapeutic Targeting in Malignancies

Advanced Science, EarlyView.
In this review, an integrated conceptual framework linking HSP90's molecular chaperone functions to its pathological roles in cancer is proposed. HSP90 serves as a central node that integrates oncogenic signaling, buffers proteotoxic stress, maintains cancer stem cell plasticity, and shapes tumor‐immune interactions, all of which converge to drive ...
Beibei Zhang, Xinxin Zou, Jiansong Zhou, Qinmiao Sun, Dahua Chen   +4 more
wiley   +1 more source

Treatment of lysosomal storage disorders: successes and challenges

, 2014
Treatment options for a number of lysosomal storage disorders have rapidly expanded and currently include enzyme replacement therapy, substrate reduction, chaperone treatment, hematopoietic stem cell transplantation, and gene-therapy.
Carla E. M. Hollak, Frits A. Wijburg, Hollak, Carla E. M., Wijburg, Frits A.   +3 more
core   +1 more source

Leonurine Ameliorates Doxorubicin‐Induced Cardiotoxicity via STING/NF‐κB/NLRP3 Inflammasome Signaling Pathway

Advanced Science, EarlyView.
ABSTRACT Doxorubicin‐induced cardiomyopathy (DIC) remains a dose‐limiting clinical challenge. This study reveals that cardiac vascular endothelial cells (CVECs) act as initial sensors of doxorubicin cardiotoxicity: circulating doxorubicin activates the cGAS‑STING pathway in CVECs, triggering NLRP3 inflammasome‑mediated pyroptosis and release of ...
Wang Jun, Chen Xiaoyang, Xu Jianglin, Yang Zhi, Tao Meijiao, He Jiale, Zhao Jiangfeng, Hei Xuanding, Xu Xuegong, Wang Wei, Li Chun   +10 more
wiley   +1 more source