Results 71 to 80 of about 25,002 (280)

Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy

Orphanet Journal of Rare Diseases, 2022
Background Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by comparing device usage in patients
Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds, Tarekegn Geberhiwot   +11 more
doaj   +1 more source

Dual Physiological Barriers Bypassed by a Silk‐Based Supramolecular Protein Delivery Platform for Neuroinflammation Mitigation in Alzheimer's Disease

Advanced Science, EarlyView.
A supramolecular nanocomplex based on phenolic‐modified silk sericin is developed to deliver antioxidant enzymes across the blood–brain barrier and escape lysosomal degradation. This dual‐barrier‐crossing system reduces neuroinflammation and improves cognitive performance in Alzheimer's disease mouse model, offering a promising strategy for protein ...
Doudou Hu, Tiandong Li, Jian He, Yujian Jiang, Yeyuan Wang, Jingchen Sun   +5 more
wiley   +1 more source

ZDHHC18‐Mediated Palmitoylation of ORF3a Promotes SARS‐CoV‐2 Pathogenesis by Antagonizing TRIM16‐Mediated Ubiquitination and Proteasomal Degradation

Advanced Science, EarlyView.
Palmitoylation by ZDHHC18 blocks ORF3a K27‐linked ubiquitination mediated by TRIM16, thereby preventing its proteasomal degradation and strengthening viral pathogenesis. Targeting palmitoylation through a pharmacological inhibitor (2‐BP), a competitive inhibitory peptide (OPIP), or adenovirus‐mediated knockdown of ZDHHC18 expression presents a ...
Sidi Yang, Kun Li, Lihong Liu, Linsen Zeng, Qifeng Deng, Jiacheng Huang, Xiaoran Dong, Xin Wang, Jianwei Liang, Hongchao Liu, Hong Peng, Yuxin Lin, Xiaolu Xie, Yuzhen Ye, Tiefeng Xu, Zhaohuan Wang, Chun‐Mei Li, Deyin Guo   +17 more
wiley   +1 more source

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

Stem Cell Research
Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5.
Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan   +10 more
doaj   +1 more source

A European Consortium for Lysosomal Storage Diseases

, 2008
Lysosomes are membrane-enclosed compartments, filled with hydrolytic enzymes that are used for the degradation of macromolecules. Proteins and other substrates are delivered to the lysosomes by various pathways including endocytosis, and autophagy, a ...
ANDRIA, GENEROSO
core  

Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells [PDF]

, 2019
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder (LSD), caused by iduronate 2-sulphatase (IDS) enzyme dysfunction. The neuropathology of the disease is not well understood, although the neural symptoms are currently incurable.
Nakanishi, H., Westerveld, Michael, Laszlo, L., Lo Giudice, Maria, László, L, Pijnappel, WWM Pim, Varga, Norbert, Kobolák, J, Kitiyanant, N, Hyttel, Poul, Bock, István, Jezsó, B, Hyttel, P., Zhou, S, Pijnappel, Pim, Jerso, B., Zhou, SL, Téglási, A, Varga, Eszter, Jerso, B, Pijnappel, WWM P, Dinnyés, A, Pijnappel, W., Dinnyés, András, Varga, N., Freude, K., Freude, K, Hyttel, P, Westerveld, M. (Michael), Phanthong, P., Nakanishi, H, Molnar, K., Dinnyes, A., Nakanishi, Hideyuki, Lo Giudice, M, Bock, I., Bock, I, Kobolák, Julianna, Hoogeveen-Westerveld, M, Hoogeveen - Westerveld, Marianne, Kitiyanant, Narisorn, Varga, E, Freude, Kristine, Phanthong, Phetcharat, Kitiyanant, N., Varga, N, Varga, E. (Endre), Teglasi, A., Jezsó, Bálint, Molnár, Kinga, Molnár, K, Varga, Endre, László, Lajos, Kobolak, J., Zhou, Shuling, Phanthong, P, Lo Giudice, M., Hoogeveen-Westerveld, Marianne, Zhou, S.L., Téglási, Annamária   +59 more
core   +1 more source

A Skull Bone Marrow‐to‐Brain Axis Links Osteoblastic Activity to Myeloid Cell Trafficking, Cerebral Blood Flow, and Cognition in Alzheimer's Progression

Advanced Science, EarlyView.
This study reveals that Alzheimer's disease–linked APP expression in bone‐forming cells drives skull bone marrow remodeling and alters its vascular connections to the brain. These changes disrupt immune cell trafficking, cerebral blood flow, and cognition. Targeting bone marrow macrophages restores brain function, highlighting a previously unrecognized
Lei Xiong, Dong Sun, Hao‐Han Guo, Daehoon Lee, Zhipeng Liu, Lin Mei, Wen‐Cheng Xiong   +6 more
wiley   +1 more source

Expression variation in lysosomal storage disorder genes

, 2006
Metachromatic leukodystrophy (MLD) and Gaucher disease (GD) are caused by a deficiency of arylsulphatase A (ASA) and b-glucocerebrosidase (GBA), respectively.
Mason, Lyndel Ann
core  

A Plug‐and‐Play Platform for Customizing Multivalent Degraders and Degrader‐Drug Conjugates

Advanced Science, EarlyView.
Membrane proteins remain challenging targets for conventional TPD approaches. Here, the authors develop UPTAB, a modular platform leveraging ultrahigh‐affinity orthogonal Im/CL protein pairs for lysosomal degradation of membrane proteins. Mono‐targeted (Type‐I), dual‐targeted (Type‐II), and tri‐targeted (Type‐III) UPTABs enable simultaneous degradation
Mengqing Zhao, Yan Deng, Jianjian Han, Yong Xie, Kai Bao, Lixin Ma, Lilong Liu, Wuxiang Mao   +7 more
wiley   +1 more source

SIRT6‐Mediated Deacetylation of ATF3 Promotes Silica‐Induced Lung Fibrosis by Enhancing its Nuclear Import via Binding to Importin α

Advanced Science, EarlyView.
SIRT6‐mediated ATF3 acetylation drives MGARP transcription and mitochondrial dysfunction in macrophages, promoting macrophage senescence and pulmonary fibrosis. Mechanistically, HSP70/Importin α competitively binds to ATF3, modulating its nuclear translocation.
Demin Cheng, Wenxia Bu, Fengxu Wang, Yueyuan Jin, Rongzhu Liu, Rui Zhao, Xuehai Wang, Mengna Jiang, Jinping Shen, Xinhang Cheng, Zuming Chen, Li Zhu, Jinlong Li, Zhenzhong Ge, Shichen Miao, Haotian Xu, Xiaoyu Zhou, Dongming Wang, Xinyuan Zhao   +18 more
wiley   +1 more source