Results 111 to 120 of about 56,286 (316)

Increased Blood Flow and Tendon Swelling Precedes Vascular Expansion and Tissue Matrix Changes In Early Human Tendinopathy: A Potential Window for Superior Treatment Response

Advanced Science, EarlyView.
Human participants with early‐ or chronic‐stage tendinopathy and healthy controls are investigated using ultrasound Doppler, 3T and 7T MRI, and tendon biopsies. Tendon swelling and hyperperfusion are evident early, while vascular growth and extracellular matrix changes are most pronounced in chronic tendinopathy. Early intervention may provide superior
Max F. R. Merkel, Nikolaj M. Malmgaard‐Clausen, Marius Lendal, Hartwig R. Siebner, René B. Svensson, Stephanie G. Dakin, Marcus Krüger, Luisa Schmidt, Jakob Agergaard, Ching‐Yan Chloé Yeung, S. Peter Magnusson, Michael Kjaer   +11 more
wiley   +1 more source

Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program

International Journal of Neonatal Screening
Newborn screening laboratories are increasingly adding lysosomal storage disorders (LSDs), such as Mucopolysaccharidosis I (MPS I) and Pompe disease, to their screening panels. Without newborn screening, LSDs are frequently diagnosed only after the onset
Lacey Vermette, Jon Washburn, Tracy Klug
doaj   +1 more source

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders

Molecular Genetics and Metabolism Reports, 2018
Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs).
Christian J. Hendriksz, Paul Harmatz, Roberto Giugliani, Jane Roberts, G. Suren Arul   +4 more
doaj   +1 more source

Lysosomal storage disorders: pathology within the lysosome and beyond [PDF]

, 2019
Tammy Kielian
openalex   +1 more source

Engineered GM1 Intersects Between Mitochondrial and Synaptic Pathways to Ameliorate ALS Pathology

Advanced Science, EarlyView.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease driven by genetic and molecular disruptions affecting energy balance, protein homeostasis, and stress responses in nerve cells. Studies using human and rodent models identified convergent defects in mitochondria and synaptic function.
Federica Pilotto, Tristan Dellazizzo Toth, Silvano Bond, Alexander Schmitz, Rim Diab, Sara Y. Ngo Tenlep, Brian Mooney, Silvia Erni, Martina Schobesberger, Olivier Scheidegger, Camille Peitsch, Smita Saxena   +11 more
wiley   +1 more source

Newborn Screening for Lysosomal Storage Disorders in Belgium

Journal of Inborn Errors of Metabolism and Screening, 2017
Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe ...
Francois Eyskens MD, PhD, Sylvie Devos PhD   +1 more
doaj   +1 more source

Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders [PDF]

, 1998
Chi T. Hua, John J. Hopwood, Sven R. Carlsson, R. J. Harris, Peter J. Meikle   +4 more
openalex   +1 more source

Autophagy Activators Normalize Aberrant Tau Proteostasis and Rescue Synapses in Human Familial Alzheimer's Disease iPSC‐Derived Cortical Organoids

Advanced Science, EarlyView.
A new cerebrocortical organoid model using isogenic hiPSCs with familial Alzheimer's mutations recapitulates key AD features, including amyloid‐beta and phospho‐Tau aggregation, neuronal hyperexcitability, and synapse loss. Single‐cell RNA‐seq reveals aberrant pathways in excitatory and inhibitory neurons.
Sergio R. Labra, Jadon Compher, Akhil Prabhavalkar, Mireya Almaraz, Claudia Cedeño Kwong, Christine Baal, Maria Talantova, Nima Dolatabadi, Julian Piña‐Sanz, Yubo Wang, Leonard Yoon, Swagata Ghatak, Zi Gao, Yuting Zhang, Dorit Trudler, Lynee Massey, Wei Lin, Anthony Balistreri, Michael Bula, Nicholas J. Schork, Tony S. Mondala, Steven R. Head, Jeffery W. Kelly, Stuart A. Lipton   +23 more
wiley   +1 more source

Inhibition of PIKfyve Leads to Lysosomal Disorders via Dysregulation of mTOR Signaling

Cells
PIKfyve is an endosomal lipid kinase that synthesizes phosphatidylinositol 3,5-biphosphate from phosphatidylinositol 3-phsphate. Inhibition of PIKfyve activity leads to lysosomal enlargement and cytoplasmic vacuolation, attributed to impaired lysosomal ...
Jianhong Xia, Haiyun Wang, Zhihang Zhong, Jun Jiang   +3 more
doaj   +1 more source

Targeting DESI2 as a Novel Therapeutic Strategy for JAK2‐Mutant Leukemias

Advanced Science, EarlyView.
Mass spectrometry‐based proteomics identify DESI2 as a novel component of the JAK2‐V617F complex, which associates with and stabilizes mutant JAK2 through deSUMOylation and deubiquitination, therefore promoting JAK2 mutant cell growth and MPN disease onset in vivo.
Husheng Mei, Wuqiang Wen, Wenjun Zhang, Shujing Zhang, Ting Sun, Guiming Li, Jing Zhang, Shuang Qi, Jie Zhou, Bing Li, Yunshuo Zhao, Xiaotong Chen, Bowen Li, Yiying Xue, Wang Lu, Yanli Sun, Jingyao Wang, Hengyue Shan, Shengzhe Zhang, Yushan Huang, Yisa Chen, Wenchao Wang, Qingsong Liu, Wenchao Lu, Li Tan, Yi Ding, Jianfei Fu, Jun Long, Lei Zhang, Baobing Zhao, Aibin Liang, Baishan Jiang, Jing Yang   +32 more
wiley   +1 more source