Results 141 to 150 of about 72,104 (287)

The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C. [PDF]

Biochem Soc Trans, 2023
Platt FM.
europepmc   +1 more source

A Plug‐and‐Play Platform for Customizing Multivalent Degraders and Degrader‐Drug Conjugates

Advanced Science, EarlyView.
Membrane proteins remain challenging targets for conventional TPD approaches. Here, the authors develop UPTAB, a modular platform leveraging ultrahigh‐affinity orthogonal Im/CL protein pairs for lysosomal degradation of membrane proteins. Mono‐targeted (Type‐I), dual‐targeted (Type‐II), and tri‐targeted (Type‐III) UPTABs enable simultaneous degradation
Mengqing Zhao, Yan Deng, Jianjian Han, Yong Xie, Kai Bao, Lixin Ma, Lilong Liu, Wuxiang Mao   +7 more
wiley   +1 more source

Bottom‐Up Coacervate‐Based Artificial Cells: Integrating Cellular Hallmarks into Complex Life‐Like Systems

Angewandte Chemie, EarlyView.
Current interest in artificial cell research underscores its potential to deepen our understanding of life's fundamental processes. This review highlights advances in bottom‐up coacervate‐based artificial cell engineering via combined integration of cellular hallmarks.
Arjan Hazegh Nikroo, Angshuman Das, Madelief A. M. Verwiel, Jan C. M. van Hest   +3 more
wiley   +2 more sources

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases. [PDF]

Int J Mol Sci, 2023
Spiewak J, Doykov I, Papandreou A, Hällqvist J, Mills P, Clayton PT, Gissen P, Mills K, Heywood WE.   +8 more
europepmc   +1 more source

Profiling Co‐Occurrent Morphological Phenotypes and Their Degree of Expression Severity in Vacuolated Cells by Holo‐Tomographic Flow Cytometry and Fractal Analysis

Advanced Intelligent Systems, EarlyView.
HTFC gets 3D refractive index tomograms of flowing cells. Label‐free monocytes are engineered to express patterns of cytoplasmic vacuoles. From the tomogram, an efficient dimensionality reduction is operated. Interpretable features are extracted to classify the expression severity of phenotypes coexisting in each cell, visually represented by a seven ...
Marika Valentino, Giusy Giugliano, Daniele Pirone, Fabrizio Licitra, Fulvia Vitale, Pasquale Memmolo, Lisa Miccio, Massimo D’Agostino, Pietro Ferraro, Vittorio Bianco   +9 more
wiley   +1 more source

COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience. [PDF]

Turk Arch Pediatr, 2023
Yoldaş Çelik M, Canda E, Yazıcı H, Erdem F, Yazıcı Özkaya P, Bal Sahbudak Z, Kalkan Uçar S, Çoker M.   +7 more
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 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

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction.

PLoS Biology
Glycosphingolipids (GSL) are important bioactive membrane components. GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside
Alex S Nicholson, David A Priestman, Robin Antrobus, James C Williamson, Reuben Bush, Shannon J McKie, Henry G Barrow, Emily Smith, Kostantin Dobrenis, Nicholas A Bright, Frances M Platt, Janet E Deane   +11 more
doaj   +1 more source

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK [PDF]

, 2017
Austin, Christopher P., Dai, Sheng, Dulcey, Andres E., Hu, Xin, Marugan, Juan, Ory, Daniel S., Porter, Forbes D., Wassif, Christopher A., Zheng, Wei   +8 more
core   +2 more sources