Results 181 to 190 of about 123,112 (260)

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

Sci Rep, 2020
Mansour TA, Woolard KD, Vernau KL, Ancona DM, Thomasy SM, Sebbag L, Moore BA, Knipe MF, Seada HA, Cowan TM, Aguilar M, Titus Brown C, Bannasch DL.   +12 more
europepmc   +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

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease. [PDF]

J Biol Chem
Polovitskaya MM, Rana T, Ullrich K, Murko S, Bierhals T, Vogt G, Stauber T, Kubisch C, Santer R, Jentsch TJ.   +9 more
europepmc   +1 more source

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach. [PDF]

Int J Mol Sci, 2020
Coutinho MF, Santos JI, S Mendonça L, Matos L, Prata MJ, S Jurado A, Pedroso de Lima MC, Alves S.   +7 more
europepmc   +1 more source

Genome Editing: Potential Treatment for Lysosomal Storage Diseases [PDF]

, 2015
Talita Giacomet de Carvalho, Úrsula da Silveira Matte, Roberto Giugliani, Guilherme Baldo   +3 more
openalex   +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

Anderson-Fabry Disease and Other Lysosomal Storage Disorders

Circulation, 2014
S. Nagueh
semanticscholar   +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