Results 21 to 30 of about 7,315 (135)

Global developmental delay with psychotic disorder at onset of late-infantile form of Niemann-Pick disease type C: A case report

Alʹmanah Kliničeskoj Mediciny
Niemann-Pick disease type C (NP-C) is a rare, progressive, autosomal recessive neurodegenerative disorder with onset at various ages, caused by pathogenic variants in the NPC1 or NPC2 genes.
Dmitriy V. I, Tatiana N. Proskokova
doaj   +1 more source

Impact of Reduced Cerebellar EAAT Expression on Purkinje Cell Firing Pattern of NPC1-deficient Mice

Scientific Reports, 2018
Niemann-Pick disease Type C1 (NPC1) is a rare hereditary neurodegenerative disease. NPC1-patients suffer, amongst others, from ataxia, based on a loss of cerebellar Purkinje cells (PCs). Impaired expression/function of excitatory amino acid transporters (
Michael Rabenstein, Franziska Peter, Arndt Rolfs, Moritz J. Frech   +3 more
doaj   +1 more source

Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis

Orphanet Journal of Rare Diseases, 2017
Background Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood.
Franziska Peter, Sebastian Rost, Arndt Rolfs, Moritz J. Frech   +3 more
doaj   +1 more source

The Effects of Combined Therapy With Metformin and Hydroxypropyl-β-Cyclodextrin in a Mouse Model of Niemann-Pick Disease Type C1

Frontiers in Pharmacology, 2022
Niemann–Pick disease type C1 (NPC1) is a neurodegenerative disorder characterized by lysosomal storage of free cholesterol. 2-Hydroxypropyl-β-cyclodextrin (HPβCD) is a cyclic oligosaccharide derivative that is being developed to treat NPC1.
Jiang Du, Jiang Du, Xinlei Liu, Xinlei Liu, Yan Zhang, Yan Zhang, Xiaojing Han, Xiaojing Han, Chunya Ma, Chunya Ma, Yanli Liu, Yanli Liu, Lihong Guan, Lihong Guan, Liang Qiao, Liang Qiao, Juntang Lin, Juntang Lin   +17 more
doaj   +1 more source

Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice

Life Science Alliance, 2021
This work highlights the importance of CNS transduction for treatment of neurological diseases, a finding with significant clinical implications considering the long-lasting effects of gene therapy.
Cristin D Davidson, Alana L Gibson, Tansy Gu, Laura L Baxter, Benjamin E Deverman, Keith Beadle, Arturo A Incao, Jorge L Rodriguez-Gil, Hideji Fujiwara, Xuntian Jiang, Randy J Chandler, Daniel S Ory, Viviana Gradinaru, Charles P Venditti, William J Pavan   +14 more
doaj   +1 more source

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

Journal of Lipid Research, 2017
Niemann-Pick type C (NPC) disease is a fatal inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease.
Chang Xie, Xue-Min Gong, Jie Luo, Bo-Liang Li, Bao-Liang Song   +4 more
doaj   +1 more source

NPC1 in human white adipose tissue and obesity

BMC Endocrine Disorders, 2013
Background Genetic studies have implicated the NPC1 gene (Niemann Pick type C1) in susceptibility to obesity. Methods To assess the potential function of NPC1 in obesity, we determined its expression in abdominal white adipose tissue (WAT) in relation to
Bambace Clara, Dahlman Ingrid, Arner Peter, Kulyté Agné   +3 more
doaj   +1 more source

Mass spectrometry imaging and LC/MS reveal decreased cerebellar phosphoinositides in Niemann-Pick type C1-null mice[S]

Journal of Lipid Research, 2020
Niemann-Pick disease type C1 (NPC1) is a lipid storage disorder in which cholesterol and glycosphingolipids accumulate in late endosomal/lysosomal compartments because of mutations in the NPC1 gene.
Koralege C. Pathmasiri, Melissa R. Pergande, Fernando Tobias, Rima Rebiai, Avia Rosenhouse-Dantsker, Ernesto R. Bongarzone, Stephanie M. Cologna   +6 more
doaj   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

Integrated Single‐Nucleus Multi‐Omics Atlases Reveal Lineage Plasticity and Regulatory Networks of Luminal Epithelial Cells During Mammary Gland Lactation and Involution

Advanced Science, EarlyView.
This study integrates single‐cell multi‐omics, spatial transcriptomics, and cross‐species comparative analyses to systematically characterize the cellular composition and differentiation trajectories of goat mammary epithelial cells, along with the gene regulatory networks and intercellular communication mechanisms governing these trajectories, thereby
Xiaoru Yan, Xiaoyu Mi, Guanghui Tan, Xinmei Li, Zhenliang Zhu, Zhenyu Wei, Huimei Fan, Yamei Wu, Tao Shi, Lingzhao Fang, Yuanpeng Gao, Yu Wang, Jun Liu   +12 more
wiley   +1 more source