Literature DB >> 11111100

Niemann-Pick type C: a disorder of cellular cholesterol trafficking.

D S Ory1.   

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Year:  2000        PMID： 11111100     DOI： 10.1016/s1388-1981(00)00158-x

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


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  35 in total

1.  Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Authors:  G Millat; C Marçais; C Tomasetto; K Chikh; A H Fensom; K Harzer; D A Wenger; K Ohno; M T Vanier
Journal:  Am J Hum Genet       Date:  2001-05-01       Impact factor: 11.025

2.  A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.

Authors:  Xuntian Jiang; Rohini Sidhu; Forbes D Porter; Nicole M Yanjanin; Anneliese O Speak; Danielle Taylor te Vruchte; Frances M Platt; Hideji Fujiwara; David E Scherrer; Jessie Zhang; Dennis J Dietzen; Jean E Schaffer; Daniel S Ory
Journal:  J Lipid Res       Date:  2011-04-24       Impact factor: 5.922

Review 3.  Annexins as organizers of cholesterol- and sphingomyelin-enriched membrane microdomains in Niemann-Pick type C disease.

Authors:  Magdalena Domon; Mehmet Nail Nasir; Gladys Matar; Slawomir Pikula; Françoise Besson; Joanna Bandorowicz-Pikula
Journal:  Cell Mol Life Sci       Date:  2011-12-13       Impact factor: 9.261

4.  Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.

Authors:  Forbes D Porter; David E Scherrer; Michael H Lanier; S Joshua Langmade; Vasumathi Molugu; Sarah E Gale; Dana Olzeski; Rohini Sidhu; Dennis J Dietzen; Rao Fu; Christopher A Wassif; Nicole M Yanjanin; Steven P Marso; John House; Charles Vite; Jean E Schaffer; Daniel S Ory
Journal:  Sci Transl Med       Date:  2010-11-03       Impact factor: 17.956

5.  High-content screen for modifiers of Niemann-Pick type C disease in patient cells.

Authors:  Emily K Pugach; McKenna Feltes; Randal J Kaufman; Daniel S Ory; Anne G Bang
Journal:  Hum Mol Genet       Date:  2018-06-15       Impact factor: 6.150

Review 6.  Metabolic disturbances in diseases with neurological involvement.

Authors:  João M N Duarte; Patrícia F Schuck; Gary L Wenk; Gustavo C Ferreira
Journal:  Aging Dis       Date:  2013-11-30       Impact factor: 6.745

Review 7.  Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease.

Authors:  Elizabeth A Ottinger; Mark L Kao; Nuria Carrillo-Carrasco; Nicole Yanjanin; Roopa Kanakatti Shankar; Marjo Janssen; Marcus Brewster; Ilona Scott; Xin Xu; Jim Cradock; Pramod Terse; Seameen J Dehdashti; Juan Marugan; Wei Zheng; Lili Portilla; Alan Hubbs; William J Pavan; John Heiss; Charles H Vite; Steven U Walkley; Daniel S Ory; Steven A Silber; Forbes D Porter; Christopher P Austin; John C McKew
Journal:  Curr Top Med Chem       Date:  2014       Impact factor: 3.295

8.  2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 disease.

Authors:  Jessica Davidson; Elizabeth Molitor; Samantha Moores; Sarah E Gale; Kanagaraj Subramanian; Xuntian Jiang; Rohini Sidhu; Pamela Kell; Jesse Zhang; Hideji Fujiwara; Cristin Davidson; Paul Helquist; Bruce J Melancon; Michael Grigalunas; Gang Liu; Farbod Salahi; Olaf Wiest; Xin Xu; Forbes D Porter; Nina H Pipalia; Dana L Cruz; Edward B Holson; Jean E Schaffer; Steven U Walkley; Frederick R Maxfield; Daniel S Ory
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2019-04-30       Impact factor: 4.698

9.  Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1).

Authors:  Brett Tortelli; Hideji Fujiwara; Jessica H Bagel; Jessie Zhang; Rohini Sidhu; Xuntian Jiang; Nicole M Yanjanin; Roopa Kanakatti Shankar; Nuria Carillo-Carasco; John Heiss; Elizabeth Ottinger; Forbes D Porter; Jean E Schaffer; Charles H Vite; Daniel S Ory
Journal:  Hum Mol Genet       Date:  2014-06-25       Impact factor: 6.150

Review 10.  The pathogenesis of Niemann-Pick type C disease: a role for autophagy?

Authors:  Chris D Pacheco; Andrew P Lieberman
Journal:  Expert Rev Mol Med       Date:  2008-09-10       Impact factor: 5.600
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