Results 201 to 210 of about 48,564 (222)

Recent advances in the treatment of niemann pick disease type c: a mini-review.

International journal of pharmaceutics, 2020
Niemann Pick disease Type C (NPC) is a recessive rare disease caused by the mutation on NPC1 and/or NPC2 genes changing the processing of the Low-density proteins (LDL) resulting in an accumulation of lipids in the cells. Until today there is not a cure,
A. Matencio, S. Navarro-Orcajada, A. González-Ramón, F. García-Carmona, J. López-Nicolás   +4 more
semanticscholar   +1 more source

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Molecular Genetics and Metabolism, 2012
M. Patterson, C. Hendriksz, M. Walterfang, F. Sedel, M. Vanier, F. Wijburg   +5 more
semanticscholar   +1 more source

Complex lipid trafficking in Niemann-Pick disease type C

Journal of Inherited Metabolic Disease, 2015
M. Vanier
semanticscholar   +1 more source

Systematic review of psychiatric signs in Niemann-Pick disease type C

World Journal of Biological Psychiatry, 2019
O. Bonnot, H. Klünemann, C. Velten, Juan V. Torres Martin, M. Walterfang   +4 more
semanticscholar   +1 more source

Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins

Cell, 2019
Mikael Becher Lykkegaard Winkler, Maria Szomek, Shaun Rawson   +2 more
exaly  

Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection

Cell, 2016
Xin Gong, Hongwu Qian, Jianping Wu
exaly  

Pulmonary Involvement in Niemann–Pick Disease: A State-of-the-Art Review

Lung, 2016
Felipe Mussi von Ranke, H. M. Pereira Freitas, A. Mançano, R. Rodrigues, B. Hochhegger, D. Escuissato, C. A. Araujo Neto, Thiago Krieger Bento Silva, E. Marchiori   +8 more
semanticscholar   +1 more source

The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking.

Biochemical and Biophysical Research Communications - BBRC, 2017
Hyejin Kim, Younghwa Chun, Lihua Che, J. Kim, Sungjoong Lee, Soojin Lee   +5 more
semanticscholar   +1 more source

Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Methods in Cell Biology, 2015
M. Vanier, P. Latour
semanticscholar   +1 more source

Ebola Viral Glycoprotein Bound to Its Endosomal Receptor Niemann-Pick C1

Cell, 2016
Han Wang, Yi Shi, Jian Song
exaly