Results 91 to 100 of about 2,885,518 (281)

Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation

JCI Insight, 2020
Although congenital heart defects (CHDs) represent the most common birth defect, a comprehensive understanding of disease etiology remains unknown.
Po-Nien Lu, Trevor Moreland, Courtney J. Christian, Troy C. Lund, Richard A. Steet, Heather Flanagan-Steet   +5 more
doaj   +1 more source

Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy

, 2009
We compared substrate reduction in patients with lysosomal storage disorder treated with hematopoietic stem cell transplant and found that it was significantly reduced compared with patients treated with pharmacological enzyme replacement therapy.
O'Meara, Anne, Wynn, Robert F., Tylee, Karen, Wraith, J. Ed, Thornley, Margaret, Church, Heather J., Bigger, Brian W.; id_orcid, Mercer, Jean   +7 more
core   +1 more source

Lysosomal Storage Disease [PDF]

, 2012
How to Cite this Article: Ghofrani M. Lysosomal Storage Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):1-2. For Reading more pls see PDF  
GHOFRANI, Mohammad
core   +1 more source

Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study

, 2022
Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by the LIPA gene leads to LAL deficiency (LAL-D) (OMIM 278000), one of the lysosomal
Mashima, Ryuichi, Ryuichi Mashima, Shuji Takada, Takada, Shuji   +3 more
core   +1 more source

Quantitative Visualization of Intracellular Nanometabolism Using Peak‐Shifted Dual‐State Emissive FRET Nanoprobes

Advanced Science, EarlyView.
This study reveals the long‐elusive intracellular dissolution mechanism of carrier‐free nanomedicines. By utilizing peak‐shifted dual‐state emissive FRET nanoprobes (PDFNPs) that undergo a distinct ratiometric fluorescence peak shift upon disassembly, we achieve real‐time, quantitative tracking of dissolution kinetics in live cells.
Farsai Taemaitree, Jinwoo Sung, Yutaro Miki, Ryuju Suzuki, Yoshitaka Koseki, Kunikazu Ishii, Minsang Kim, Keita Tanita, Kota Sato, Toru Nakazawa, Satoshi Katsube, Daisuke Unabara, Tasuku Hamaguchi, Keisuke Kawakami, Koji Yonekura, Akihide Hibara, Atsushi Wakamiya, Hiroshi Uji‐I, Hitoshi Kasai   +18 more
wiley   +1 more source

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

Stem Cell Research
Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5.
Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan   +10 more
doaj   +1 more source

Relationship of Lysosomal Storage Diseases (LSD) with Autophagy [PDF]

, 1986
Lysosomes are organelles that degrade damaged components or structures that have completed their functions and have roles in the last step of the autophagy pathway. Damage of the autophagy-lysosome pathway can cause vital problems for the cell. Lysosomal
Orbak, Zerrin, Alkaç, İsmail Mert, Gökkuş, Fikret, Burcu Çerçi, Seda Keskin, Keskin, Seda, İsmail Mert Alkaç, Çerçi, Burcu, Alkaç, Burcu Çerçi   +8 more
core   +2 more sources

Molecular Glue Degraders Enhance CAPRIN1‐Dependent Lysosomal Degradation of APP and Reduce Amyloid β in Alzheimer's Disease

Advanced Science, EarlyView.
A new class of lysosome‐directed molecular glue degraders selectively enhance CAPRIN1–APP interactions, driving APP degradation and reducing amyloid‐β production in human neurons and Alzheimer's disease mouse models. This CAPRIN1‐dependent targeted protein degradation strategy reveals a previously unrecognized therapeutic approach for disrupting the ...
Sunghan Jung, Xu Wang, Bin Liu, Raktim Roy, Nancy Jaiswal, Ratan K. Rai, Yuichiro Takagi, Cen Gao, Lifan Zeng, Ho‐Yin Lo, Reagan K. Wohlford, Ryan K. Higgins, Bruce T. Lamb, Anantha Shekhar, Anita C. Bellail, Chunhai Hao   +15 more
wiley   +1 more source

SIRT7‐Mediated H2BK120 Succinylation Drives Aberrant Mitophagy in Sepsis‐Associated Cognitive Dysfunction

Advanced Science, EarlyView.
Sepsis triggers hippocampal SIRT7 loss, promoting histone H2B succinylation and activation of the PD‐1/PD‐L1–PINK1 axis. This metabolic‐epigenetic cascade drives aberrant mitophagy and neuronal injury, ultimately causing cognitive deficits. Targeting SIRT7‐dependent succinylation offers a potential strategy to protect brain function during sepsis ...
Na Meng, Jiateng Zhou, Xiaoyu Guo, Ting Hong, Xuelian Li, Xingyu Wei, Chanhua Zhang, Xixue Zhang, Songbin Liu, Yulin Zhang, Liangfang Yao, Lina Huang, Weidong Gu   +12 more
wiley   +1 more source

Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency

Journal of Veterinary Internal Medicine
Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability ...
Pernilla Syrjä, Mathilda M. H. Ylenius, Matilda Kråkström, Alex M. Dickens, Elina Rautala, Anna Huupponen, Anders Eriksson, Sanna J. Viitanen   +7 more
doaj   +1 more source