Results 91 to 100 of about 58,222 (243)

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

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

Impact of ER stress and the unfolded protein response on Fabry disease

EBioMedicine
Summary: Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the α-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity.
Malte Lenders, Elisa Rudolph, Eva Brand
doaj   +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

Emerging links between pediatric lysosomal storage diseases and adult parkinsonism

Movement Disorders, 2019
Lysosomal storage disorders comprise a clinically heterogeneous group of autosomal‐recessive or X‐linked genetic syndromes caused by disruption of lysosomal biogenesis or function resulting in accumulation of nondegraded substrates.
Daniel Ysselstein, J. Shulman, D. Krainc
semanticscholar   +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

Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene

Lipids in Health and Disease, 2006
Summary Background Arylsulfatase A (ASA)-deficient mice are a model for the lysosomal storage disorder metachromatic leukodystrophy. This lipidosis is characterised by the lysosomal accumulation of the sphingolipid sulfatide.
De Deyn PP, D'Hooge R, Mansson JE, Wittke D, Franken S, Lüllmann-Rauch R, Matzner U, Gieselmann V   +7 more
doaj   +1 more source

Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity. [PDF]

PLoS Genet, 2023
Yu M, Ye H, De-Paula RB, Mangleburg CG, Wu T, Lee TV, Li Y, Duong D, Phillips B, Cruchaga C, Allen GI, Seyfried NT, Al-Ramahi I, Botas J, Shulman JM.   +14 more
europepmc   +1 more source

Examining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer’s Disease [PDF]

, 2023
Steven M. LeVine
openalex   +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