Results 131 to 140 of about 21,042 (237)

'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases [PDF]

, 2010
Machtelt G. Bouwman, Q. Teunissen, Frits A. Wijburg, Gabor E. Linthorst   +3 more
openalex   +1 more source

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry [PDF]

, 2022
Ruotong Li, Liping Tian, Qing Gao, Yuanfang Guo, Gaijie Li, Yulin Li, Meng Sun, Yan Yan, Qing Li, Wenying Nie, Hui Zou   +10 more
openalex   +1 more source

Altered Inflammatory Signature in a C9ORF72‐ALS iPSC‐Derived Motor Neuron and Microglia Coculture Model

Glia, EarlyView.
Established a C9ORF72 ALS microglia and motor neuron coculture model. Identified an altered inflammatory signature in C9ORF72 ALS microglia. Single‐cell RNA sequencing detected the removal of an LPS responsive microglia subpopulation. ABSTRACT Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disorder involving multiple cell types in ...
Yujing Gao, Jessica L. Brothwood, Harpreet Saini, Gregory A. O'Sullivan, Carla F. Bento, James M. McCarthy, Nicola G. Wallis, Elena Di Daniel, Brent Graham, Daniel M. Tams   +9 more
wiley   +1 more source

hiPSC‐Derived Astrocytes From Individuals With Schizophrenia Induce a Dystrophic Phenotype in Microglial‐Like Cells

Glia, EarlyView.
SCZ astrocytes display an increased pro‐inflammatory profile upon TNF‐α stimulation. Reactive SCZ astrocytes induce microglial‐like cells to assume a dystrophic phenotype. Reactive SCZ astrocytes limit iMGs' synaptoneurosome uptake and migration. ABSTRACT Neuroinflammation, particularly astrocyte reactivity, is increasingly linked to schizophrenia (SCZ)
Pablo L. Cardozo, Chia‐Yi Lee, Juliana P. S. Lacerda, Júlia S. Fahel, Pablo Trindade, Gabriela Vitória, Leonardo Chicaybam, Rafaela C. Cordeiro, Isaque J. S. de Faria, Nathália C. Silva, Yaovi M. H. Todjro, Joana C. do P. Maciel, Martin H. Bonamino, Luciene B. Vieira, Breno F. Cruz, Rodrigo Nicolato, Kristen J. Brennand, Stevens K. Rehen, Fabíola M. Ribeiro   +18 more
wiley   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

The mechanisms in glucose metabolism of aging hippocampus

Ibrain, EarlyView.
Cognitive decline in elders stems from the irreversible loss and functional decline of neurons, with the hippocampus being particularly susceptible to age‐related neuronal deterioration. Glucose acts as the primary fuel for the brain, and a constant provision of glucose to the hippocampus is essential for memory and cognitive functions.
Rui He, Fuxing Zhao, Zhiyu Yang, Tingting Wang, Yaohui Zhang, Jinglan Quan, Gaohong Zhu   +6 more
wiley   +1 more source

Mitochondrial fission protein 1 in the regulation of mitochondrial quality control: A cancer perspective

Interdisciplinary Medicine, EarlyView.
Background: Mitochondrial fission protein (FIS1), affecting energy metabolism and homeostasis, is crucial for mitochondrial quality control (MQC) and tumor progression. Key Points: It varies in expression across TME, influencing tumor progression.
Chao Wei, Xiaoling Yuan, Xiaoli Liu, Jia Feng, Miao Song, Xuexue Liu, Jiahong Zhou, Jinbo Liu   +7 more
wiley   +1 more source

The role of the host—Neutrophil biology

Periodontology 2000, EarlyView., 2023
Abstract Neutrophilic polymorphonuclear leukocytes (neutrophils) are myeloid cells packed with lysosomal granules (hence also called granulocytes) that contain a formidable antimicrobial arsenal. They are terminally differentiated cells that play a critical role in acute and chronic inflammation, as well as in the resolution of inflammation and wound ...
Iain L. C. Chapple, Josefine Hirschfeld, Alpdogan Kantarci, Asaf Wilensky, Lior Shapira   +4 more
wiley   +1 more source

Newborn Screening for Lysosomal Storage Disorders in Belgium [PDF]

, 2017
François Eyskens, Sylvie Devos
openalex   +1 more source

Ocular Features of Treatable Lysosomal Storage Disorders—Fabry Disease, Mucopolysaccharidoses I, II and VI and Gaucher Disease [PDF]

, 2012
Ines Lanzl, Bart P. Leroy
openalex   +1 more source