Retinal axonal degeneration in Niemann-Pick type C disease.
Journal Of Neurology
Havla, Joachim J; Moser, Marlene M; Sztatecsny, Clara C; Lotz-Havla, Amelie S AS; Maier, Esther M EM; Hizli, Baccara B; Schinner, Regina R; Kümpfel, Tania T; Strupp, Michael M; Bremova-Ertl, Tatiana T; Schneider, Susanne A SA
Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.
International Journal Of Molecular Sciences
Brogden, Graham G; Shammas, Hadeel H; Walters, Friederike F; Maalouf, Katia K; Das, Anibh M AM; Naim, Hassan Y HY; Rizk, Sandra S
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Nature Communications
Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.
Journal Of Lipid Research
Pipalia, Nina H NH; Subramanian, Kanagaraj K; Mao, Shu S; Ralph, Harold H; Hutt, Darren M DM; Scott, Samantha M SM; Balch, William E WE; Maxfield, Frederick R FR
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Febs Letters
Mazzacuva, Francesca F; Mills, Philippa P; Mills, Kevin K; Camuzeaux, Stephane S; Gissen, Paul P; Nicoli, Elena-Raluca ER; Wassif, Christopher C; Te Vruchte, Danielle D; Porter, Forbes D FD; Maekawa, Masamitsu M; Mano, Nariyasu N; Iida, Takashi T; Platt, Frances F; Clayton, Peter T PT
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Ebiomedicine
Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T
Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.
Molecular Genetics And Metabolism
Maarup, Timothy J TJ; Chen, Agnes H AH; Porter, Forbes D FD; Farhat, Nicole Y NY; Ory, Daniel S DS; Sidhu, Rohini R; Jiang, Xuntian X; Dickson, Patricia I PI
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
Journal Of Lipid Research
Garver, William S WS; Jelinek, David D; Meaney, F John FJ; Flynn, James J; Pettit, Kathleen M KM; Shepherd, Glen G; Heidenreich, Randall A RA; Vockley, Cate M Walsh CM; Castro, Graciela G; Francis, Gordon A GA