Results 91 to 100 of about 29,877 (187)

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant

Journal of Rare Diseases
Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with a relentless
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl   +6 more
doaj   +1 more source

A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
doaj   +1 more source

Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process. [PDF]

, 2019
To understand the impact of epigenetics on human misfolding disease, we apply Gaussian-process regression (GPR) based machine learning (ML) (GPR-ML) through variation spatial profiling (VSP). VSP generates population-based matrices describing the spatial
Balch, William E, Farhat, Nicole Y, Hutt, Darren M, Loguercio, Salvatore, Porter, Forbes D, Scott, Samantha M, Subramanian, Kanagaraj, Wang, Chao, Zhao, Pei   +8 more
core   +1 more source

Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells[S]

Journal of Lipid Research, 2019
In specialized cell types, lysosome-related organelles support regulated secretory pathways, whereas in nonspecialized cells, lysosomes can undergo fusion with the plasma membrane in response to a transient rise in cytosolic calcium. Recent evidence also
Fabrizio Vacca, Stefania Vossio, Vincent Mercier, Dimitri Moreau, Shem Johnson, Cameron C. Scott, Jonathan Paz Montoya, Marc Moniatte, Jean Gruenberg   +8 more
doaj   +1 more source

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. [PDF]

, 2013
Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late ...
Beltrami, Antonio Paolo, Beltrami, Carlo Alberto, Bembi, B, Bergamin, N, Cesselli, Daniela, Dardis, A, Domenis, Rossana, Rigo, S, Zampieri, S   +8 more
core   +2 more sources

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C [PDF]

, 2016
Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by the occurrence of visceral and neurological symptoms. At present, the molecular mechanisms causing neurodegeneration in this disease are unknown.
Bembi, Bruno, Buratti, Emanuele, CANTERINI, Sonia, Dardis, Andrea, FIORENZA, Maria Teresa, Ghetti, Bernardino, Murrell, Jill, Newell, Kathy, Situani, Cristiana, Zampieri, Stefania   +9 more
core   +3 more sources

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate

Molecular Genetics and Metabolism Reports, 2015
Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann–Pick disease types A and B.
Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S. Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F. Cox, Kate Zhang   +9 more
doaj   +1 more source

DNA Checkpoint and Repair Factors Are Nuclear Sensors for Intracellular Organelle Stresses-Inflammations and Cancers Can Have High Genomic Risks. [PDF]

, 2018
Under inflammatory conditions, inflammatory cells release reactive oxygen species (ROS) and reactive nitrogen species (RNS) which cause DNA damage. If not appropriately repaired, DNA damage leads to gene mutations and genomic instability.
Chen, Hongping, Choi, Eric T., Cueto, Ramon, Drosatos, Konstantinos, Fu, Hangfei, Nanayakkara, Gayani K, Park, Joon Y., Qin, Xuebin, Shao, Lijian, Shao, Ying, Sheng, Haitao, Sun, Jianxin, Sun, Yu, Wang, Hong, Wang, Luqiao, Wu, Na, Yang, Qian, Yang, William Y, Yang, Wuping, Yang, Xiaofeng, Zeng, Huihong, Zhu, Qingxian   +21 more
core   +2 more sources

Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease [PDF]

, 2016
Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids ...
Cardinale, A, Cutarelli, A, D'Arcangelo, G, Frank, C, Grossi, D, Merlo, D, Racaniello, M, Rufini, S, Tancredi, V, Zaratti, A   +9 more
core   +4 more sources

The metabolism of APP protein in lysosomal storage disorders [PDF]

, 2009
Nedavna istraživanja su pokazala da povišena razina kolesterola može mijenjati cijepanje prekursora proteina amiloid-beta (APP) i utjecati na nakupljanje peptida amiloid-beta (Aβ), glavne patološke značajke Alzheimerove bolesti (AB).
Posavec, Melanija
core   +1 more source