Results 111 to 120 of about 25,991 (218)

Niemann-Pick Disease Type C

, 2016
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids, and other molecules, but their exact function is still unknown.
openaire   +2 more sources

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease [PDF]

, 2016
This article describes a rapid UPLC-MS/MS method to quantitate novel bile acids in biological fluids and the evaluation of their diagnostic potential in Niemann-Pick C (NPC). Two new compounds, NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid)
Camuzeaux, S, Clayton, PT, Gissen, P, Iida, T, Maekawa, M, Mano, N, Mazzacuva, F, Mills, K, Mills, P, Nicoli, E-R, Platt, F, Porter, FD, te Vruchte, D, Wassif, C   +13 more
core   +1 more source

Precision medicine in cats:novel niemann-pick type C1 diagnosed by whole-genome sequencing [PDF]

, 2017
State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment.
1, 1 B. Gandolfi, 1 C. R. Reinero, 1 D. P. O'Brien, 1 J. L. Spooner, 2 L. A. Lyons, Adam R. Boyko, and 99 Lives Consortium: Danielle Aberdein, Christopher B. Kaelin, Christopher R. Helps, D. A. Mauler, Dorian J. Garrick, Elizabeth A. Wilcox, Emilie Leclerc, Gregory S. Barsh, Hannes Lohi, Holly C. Beale, Jeffrey A. Brockman, John S. Munday, Jonathan E. Fogle, Joshua A. Stern, Julia H. Wildschutte, Karen A. Terio, Maria Kaukonen, Maria Longeri, Marjo K. Hytönen, Marta G. Castelhano, Max F. Rothschild, Michael J. Montague, N. Matthew Ellinwood, Niels C. Pedersen, Patricia P. Chan, Paulo C. Alves, Richard Malik, Rory J. Todhunter, Tosso Leeb, Wesley C. Warren, William F. Swanson, William J. Murphy, Yu Ueda   +39 more
core   +1 more source

Unravelling new pathways of sterol metabolism [PDF]

, 2017
Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and ...
Björkhem, Boenzi, Boland, Griffiths, Griffiths, Griffiths, Griffiths, Guengerich, Jiang, Jones, Kannenberg, Mazzacuva, Noguer, Nury, Pajares, Pataj, Polo, Reunert, Romanello, Sever, Silvente-Poirot, Vanier, Vaz, Xu   +23 more
core   +1 more source

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

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

Genetic and laboratory diagnostic approach in Niemann Pick disease type C [PDF]

, 2014

core   +1 more source

Niemann-Pick disease type C [PDF]

, 2020
openaire   +3 more sources

The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C. [PDF]

Biochem Soc Trans, 2023
Platt FM.
europepmc   +1 more source

Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann-Pick disease type C treatment. [PDF]

Clin Transl Med, 2023
Yamada Y, Fukaura-Nishizawa M, Nishiyama A, Ishii A, Kawata T, Shirakawa A, Tanaka M, Kondo Y, Takeo T, Nakagata N, Miwa T, Takeda H, Orita Y, Motoyama K, Higashi T, Arima H, Seki T, Kurauchi Y, Katsuki H, Higaki K, Minami K, Yoshikawa N, Ikeda R, Matsuo M, Irie T, Ishitsuka Y.   +25 more
europepmc   +1 more source