Results 121 to 130 of about 48,564 (222)

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

Niemann-Pick disease type B: HRCT assessment of pulmonary involvement

Jornal Brasileiro de Pneumologia, 2017
Objective: To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics.
H. Freitas, A. Mançano, R. Rodrigues, B. Hochhegger, P. Torres, D. Escuissato, C. A. Araujo, E. Marchiori   +7 more
semanticscholar   +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

Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures

, 2015
Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC ...
Christopher L. Adamson, Dennis Velakoulis, Elizabeth A. Bowman, Jeffrey Chee, Larry A. Abel, Leong Looi, Mark Walterfang, Matthew D. Macfarlane, Michael C. Fahey, Patricia Desmond   +9 more
core   +1 more source

Hepatic and Pulmonary Involvement in an Adult Female Affected by Type B Niemann-Pick Disease

Eurasian Journal of Medicine, 2019
We report a case of type B Niemann-Pick disease in a 39-year-old female patient. She presented with hepatomegaly, splenomegaly and moderate mental retardation without other signs or symptoms.
Fatih Albayrak, Rahsan Yıldırım, Hakan Dursun, Fuat Erdem, Sare Altaş, Abdullah Uyanık, Mustafa Keleş   +6 more
doaj  

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Вопросы современной педиатрии
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

Types A and B Niemann-Pick disease.

Molecular Genetics and Metabolism, 2017
E. Schuchman, R. Desnick
semanticscholar   +1 more source

Assessing the effect of statins in lowering the risk of stroke and preventing cerebral ischemia in patients with hypercholesterolemia [PDF]

, 2017
Numerous analyses have explored the role of statins in reducing stroke incidence, reducing cerebral ischemia in hypercholesterolemic patients, and preventing ischemic stroke.
AlSulaiman, Wafa
core