Article
Multidisciplinary Sciences
Attila D. Kovacs, Logan M. Langin, Jose L. Gonzalez Hernandez, David A. Pearce
Summary: Acidified drinking water has therapeutic effects in Cln1(R151X) mice, improving motor ability and reducing brain damage. The therapeutic effects of acidified water may be mediated by altering gut microbiota composition.
SCIENTIFIC REPORTS
(2022)
Article
Biology
Cynthia Tang, Jimin Han, Sonal Dalvi, Kannan Manian, Lauren Winschel, Stefanie Volland, Celia A. Soto, Chad A. Galloway, Whitney Spencer, Michael Roll, Caroline Milliner, Vera L. Bonilha, Tyler B. Johnson, Lisa Latchney, Jill M. Weimer, Erika F. Augustine, Jonathan W. Mink, Vamsi K. Gullapalli, Mina Chung, David S. Williams, Ruchira Singh
Summary: Mutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, affecting the phagocytosis of photoreceptor outer segments by retinal pigment epithelium (RPE) cells. Patient-derived cells show that CLN3 is essential for RPE cell structure and phagocytosis, suggesting potential for gene therapy targeting RPE cells in treating CLN3 disease.
COMMUNICATIONS BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Nouf N. Laqtom, Wentao Dong, Uche N. Medoh, Andrew L. Cangelosi, Vimisha Dharamdasani, Sze Ham Chan, Tenzin Kunchok, Caroline A. Lewis, Ivonne Heinze, Rachel Tang, Christian Grimm, An N. Dang Do, Forbes D. Porter, Alessandro Ori, David M. Sabatini, Monther Abu-Remaileh
Summary: Lysosomes play crucial roles in cellular function, and dysfunction is associated with various human diseases. The study reveals the importance of CLN3 protein in glycerophospholipid metabolism within lysosomes, as its loss leads to massive accumulation of GPDs.
Article
Chemistry, Multidisciplinary
Huili Wang, Yishuo Sun, Xuemei Lin, Wei Feng, Zhanxian Li, Mingming Yu
Summary: The normal operation of lysosome, mitochondria, Golgi apparatus, and endoplasmic reticulum is crucial for maintaining cell homeostasis. A new NIR pH-dependent fluorescent probe, DCIC, was synthesized using the TICT mechanism to identify the viscosity of lysosomes. DCIC exhibited high sensitivity to viscosity in viscous media, with fluorescence intensity increasing by 180 times as viscosity increased from 1.0 cp to 438.4 cp. Moreover, DCIC showed a high localization ability for lysosome, mitochondria, Golgi apparatus, and endoplasmic reticulum, and could monitor lysosomal viscosity fluctuations using laser confocal microscopy.
CHINESE CHEMICAL LETTERS
(2023)
Article
Multidisciplinary Sciences
Evan J. Brettrager, Arthur W. Meehan, Charles N. Falany, Robert C. A. M. van Waardenburg
Summary: Through the yeast model system, it has been found that ectopic expression of SULT4A1 leads to correct subcellular localization and functional activity. The expression of SULT4A1 promotes colony formation and protects cells from oxidative stress, which is dependent on the presence of extracellular sulfate.
SCIENTIFIC REPORTS
(2022)
Review
Cell Biology
William D. Kim, Morgan L. D. M. Wilson-Smillie, Aruban Thanabalasingam, Stephane Lefrancois, Susan L. Cotman, Robert J. Huber
Summary: This review summarizes the research linking the autophagy pathway to neuronal ceroid lipofuscinoses (NCLs) and provides guidance for future studies on the contribution of altered autophagy to NCL pathology.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Medicine, General & Internal
Rachel Myerowitz, Rosa Puertollano, Nina Raben
Summary: Lysosomal storage disorders are caused by mutations in genes encoding proteins involved in lysosomal function, leading to abnormal storage and autophagic dysfunction. Although different LSDs affect diverse lysosomal functions, they all uniquely impair the autophagic process when mutant.
Review
Biochemistry & Molecular Biology
Ahmed Morsy, Angelica Carmona, Paul C. Trippier
Summary: Batten disease or neuronal ceroid lipofuscinosis (NCL) is a group of rare fatal inherited neurodegenerative lysosomal storage disorders for which no curative treatments are currently available. Induced pluripotent stem cells (iPSCs) can serve as valuable models to shed light on disease mechanisms and facilitate drug discovery for NCL.
Article
Materials Science, Multidisciplinary
Toshitaka Ogata, Mitsuaki Kawamura, Taisuke Ozaki
Summary: Two methods are presented in this paper for constructing flat-band systems: the first method derives conditions for flat bands based on a given graph structure, allowing tuning of parameters for flat bands in systems with a small number of sites per unit cell; the second method involves removing or adding sites to obtain multiple flat-band systems from a single one. These methods demonstrate the possibility of constructing various lattice structures with flat bands in the band structure.
Review
Biochemistry & Molecular Biology
I. Basak, H. E. Wicky, K. O. McDonald, J. B. Xu, J. E. Palmer, H. L. Best, S. Lefrancois, S. Y. Lee, L. Schoderboeck, S. M. Hughes
Summary: Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease caused by mutations in thirteen CLN genes. Mutations in the CLN5 gene lead to a form of variant late-infantile NCL, with widespread protein expression in various tissues. Research on CLN5 helps to understand lysosomal biology and develop efficient therapies for CLN5 Batten disease.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Review
Clinical Neurology
Emily Gardner, Sara E. Mole
Summary: Neuronal ceroid lipofuscinoses are a group of inherited neurodegenerative disorders affecting children and adults, sharing similar clinical features and accumulation of storage material. Over 530 mutations have been identified in 13 genes, encoding various proteins including lysosomal enzymes. While many mutations are associated with typical disease phenotypes, there is an increasing description of variant disease phenotypes.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Weifang Wu, Toni McHugh, David A. Kelly, Alison L. Pidoux, Robin C. Allshire
Summary: The establishment of centromere-specific CENP-A chromatin is influenced by epigenetic and genetic processes. The nuclear spatial organization plays a key role in determining centromere identity.
Review
Clinical Neurology
Keigo Takahashi, Hemanth R. Nelvagal, Jenny Lange, Jonathan D. Cooper
Summary: This article summarizes the latest understanding of glial pathologies and their contribution to the pathogenesis of NCLs, highlighting the challenges that require further research.
FRONTIERS IN NEUROLOGY
(2022)
Article
Dermatology
Le Quynh Hoang, Suvra Pal, Zhaoli Liu, Jon Senkowsky, Liping Tang
Summary: This study aims to investigate whether monitoring wound alkalinity between visits can help predict the healing outcome of chronic wounds. The results show that wounds with frequent alkaline results have smaller size reduction during each visit and higher 120-day healing probability with fewer alkaline results. Survival analysis indicates that the healing rate of non-alkaline wounds is significantly higher than that of alkaline wounds with more alkalinity measurements.
INTERNATIONAL WOUND JOURNAL
(2023)
Article
Mechanics
Thomas Russell, Pavel Bedrikovetsky
Summary: This study focuses on mathematical modeling of suspension-colloidal-nano transport in porous media at different scales, discussing the homogenization of equations and the relationship between the filtration function and carrier fluid velocity. The developed model provides explicit formulas for large-scale transport coefficients in terms of micro-scale parameters for various velocity-dependent filtration functions, showing typical dependencies on velocity and micro-scale parameters. Treatment of laboratory tests reveals close match with modeling-based predictions.