Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process Tekijä Chao Wang, Samantha M. Scott, Kanagaraj Subramanian, Salvatore Loguercio, Pei Zhao, Darren M. Hutt, Nicole Y. Farhat, Forbes D. Porter, William E. Balch

Hae kokoteksti

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid Tekijä Rohini Sidhu, Hui Jiang, Nicole Y. Farhat, Nuria Carrillo-Carrasco, Myra Woolery, Elizabeth Ottinger, Forbes D. Porter, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang

Hae kokoteksti

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression Tekijä Laura L. Baxter, Dawn E. Watkins-Chow, Nicholas L. Johnson, Nicole Y. Farhat, Frances M. Platt, Ryan K. Dale, Forbes D. Porter, William J. Pavan, Jorge L. Rodriguez-Gil

Hae kokoteksti

Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease Tekijä Mark L. Schultz, Kylie J. Schache, Ruth D. Azaria, Esmée Q. Kuiper, Steven Erwood, Evgueni A. Ivakine, Nicole Y. Farhat, Forbes D. Porter, Koralege C. Pathmasiri, Stephanie M. Cologna, Michael D. Uhler, Andrew P. Lieberman

Hae kokoteksti

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1 Tekijä Kiersten Campbell, Niamh X. Cawley, Rachel Luke, Katelin E. J. Scott, Nicholas Johnson, Nicole Y. Farhat, Derek Alexander, Christopher A. Wassif, Wenping Li, Stephanie M. Cologna, Elizabeth Berry-Kravis, An Dang Do, Ryan K. Dale, Forbes D. Porter

Hae kokoteksti

Defective platelet function in Niemann‐Pick disease type C1 Tekijä Oscar C. W. Chen, Alexandria Colaco, Lianne C. Davis, Fedir N. Kiskin, Nicole Y. Farhat, Anneliese O. Speak, David A. Smith, Lauren Morris, Emily Eden, Patricia Tynan, Grant C. Churchill, Antony Galione, Forbes D. Porter, Frances M. Platt

Hae kokoteksti

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved] Tekijä David A Smith, Elena-Raluca Nicoli, Oscar C W Chen, Alexandria Colaco, Stephan Siebel, Stephanie Newman, Dawn Shepherd, Nicole Y Farhat, Andrew E Armitage, Claire Smith, George Seligmann, Mylvaganam Jeyakumar, Alaa Abdul-Sada, Forbes D Porter, Hal Drakesmith, Frances M Platt, Nick Platt

Hae kokoteksti