Results 121 to 130 of about 8,108 (242)

Lipid Structure Matters in Lysosomal Storage Disease

Journal of Lipid Research, 2023
Roger Sandhoff
doaj   +1 more source

Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.

, 2007
Sandhoff disease, Gaucher disease type I and sialidosis type I are lysosomal storage disorders caused, respectively, by deficiency of activity of beta-hexosaminidase (storage of GM(2) and GA(2) ganglioside), glucosylceramidase (storage of ...
DE SANTI MM, FEDERICO, ANTONIO, BUCCOLIERO R, CIARLEGLIO G, COLLODORO A, PALMERI, SILVIA   +5 more
core   +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

Lysosomal Storage Disease in Iran (Report of Molecular Study)

, 2012
How to Cite this Article: Houshmand M, Tonekaboni SH, Karimzadeh P, Aryani O, AshrafiMR, Salehpour Sh, Badv Sh, Shakiba M, Alaee MR, Farshid Sh. Lysosomal Storage Disease inIran. (Report of Molecular Study). Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1)
KARIMZADEH, Parvaneh, SALEHPOUR, Shadab, ASHRAFI, Mahmoudreza, SHAKIBA, Marjan, FARSHIDI, Shahla, TONEKABONI, Seyed Hassan, ALAEE, Mohammad Reza, HOUSHMAND, Massoud, BADV, Shervin, ARYANi, Omid   +9 more
core   +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

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Neurobiology of Disease
Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside.
Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +1 more source

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

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

A Dual‐Phase Exosomal Nanotherapy Enhances Continual Efferocytosis by Coordinating Checkpoint Inhibition and Metabolic Reprogramming in Atherosclerosis

Advanced Science, EarlyView.
Here we developed Am@SExo, a dual‐functional engineered exosome that coordinates CD47–SIRPα checkpoint blockade with Arg1 mRNA–mediated metabolic reprogramming. Surface SIRPα promotes recognition of apoptotic cells and plaque targeting, while Arg1 expression enhances arginine–ornithine metabolism, Rac1 activation, and actin remodeling in macrophages ...
Danwen Zheng, Shiteng Cai, Jinfeng Gao, Sheng Zhao, Bohan Wei, Xueyi Weng, Zhengmin Wang, Qiaozi Wang, Qiyu Li, Chengzhi Han, Weiyan Li, Yiwen Tan, Yuyuan Fu, Meng Ji, Zheyong Huang, Yanan Song, Juying Qian, Junbo Ge   +17 more
wiley   +1 more source

Lysosomes and Storage diseases

, 1970
info:eu-repo/semantics ...
Grégoire, Anne, Tondeur, Michel, Pohl, Sylvie, Dustin, Pierre   +3 more
openaire   +1 more source