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Items: 20

1.

N-Acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.

Sidhu R, Mondjinou Y, Qian M, Song H, Kumar AB, Hong X, Hsu FF, Dietzen DJ, Yanjanin NM, Porter FD, Berry-Kravis E, Vite CH, Gelb MH, Schaffer JE, Ory DS, Jiang X.

J Lipid Res. 2019 Jun 14. pii: jlr.RA119000157. doi: 10.1194/jlr.RA119000157. [Epub ahead of print]

2.

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

Tortelli B, Fujiwara H, Bagel JH, Zhang J, Sidhu R, Jiang X, Yanjanin NM, Shankar RK, Carillo-Carasco N, Heiss J, Ottinger E, Porter FD, Schaffer JE, Vite CH, Ory DS.

Hum Mol Genet. 2014 Nov 15;23(22):6022-33. doi: 10.1093/hmg/ddu331. Epub 2014 Jun 25.

3.

Development and validation of sensitive LC-MS/MS assays for quantification of HP-β-CD in human plasma and CSF.

Jiang H, Sidhu R, Fujiwara H, De Meulder M, de Vries R, Gong Y, Kao M, Porter FD, Yanjanin NM, Carillo-Carasco N, Xu X, Ottinger E, Woolery M, Ory DS, Jiang X.

J Lipid Res. 2014 Jul;55(7):1537-48. doi: 10.1194/jlr.D050278. Epub 2014 May 27.

4.

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.

J Clin Invest. 2014 Mar;124(3):1320-8.

5.

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

Speak AO, Te Vruchte D, Davis LC, Morgan AJ, Smith DA, Yanjanin NM, Simmons L, Hartung R, Runz H, Mengel E, Beck M, Imrie J, Jacklin E, Wraith JE, Hendriksz C, Lachmann R, Cognet C, Sidhu R, Fujiwara H, Ory DS, Galione A, Porter FD, Vivier E, Platt FM.

Blood. 2014 Jan 2;123(1):51-60. doi: 10.1182/blood-2013-03-488692. Epub 2013 Nov 14.

6.

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.

Fan M, Sidhu R, Fujiwara H, Tortelli B, Zhang J, Davidson C, Walkley SU, Bagel JH, Vite C, Yanjanin NM, Porter FD, Schaffer JE, Ory DS.

J Lipid Res. 2013 Oct;54(10):2800-14. doi: 10.1194/jlr.M040618. Epub 2013 Jul 23.

7.

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.

Rodriguez-Gil JL, Larson DM, Wassif CA, Yanjanin NM, Anderson SM, Kirby MR, Trivedi NS, Porter FD, Pavan WJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):188-90. doi: 10.1016/j.ymgme.2013.06.010. Epub 2013 Jun 21.

8.

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

Fu R, Wassif CA, Yanjanin NM, Watkins-Chow DE, Baxter LL, Incao A, Liscum L, Sidhu R, Firnkes S, Graham M, Ory DS, Porter FD, Pavan WJ.

Hum Mol Genet. 2013 Sep 1;22(17):3508-23. doi: 10.1093/hmg/ddt206. Epub 2013 May 10.

9.

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

Cologna SM, Cluzeau CV, Yanjanin NM, Blank PS, Dail MK, Siebel S, Toth CL, Wassif CA, Lieberman AP, Porter FD.

J Inherit Metab Dis. 2014 Jan;37(1):83-92. doi: 10.1007/s10545-013-9610-6. Epub 2013 May 8.

10.

Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C.

Mattsson N, Zetterberg H, Bianconi S, Yanjanin NM, Fu R, Månsson JE, Porter FD, Blennow K.

JIMD Rep. 2012;3:45-52. doi: 10.1007/8904_2011_47. Epub 2011 Sep 28.

11.

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight.

Cologna SM, Jiang XS, Backlund PS, Cluzeau CV, Dail MK, Yanjanin NM, Siebel S, Toth CL, Jun HS, Wassif CA, Yergey AL, Porter FD.

PLoS One. 2012;7(10):e47845. doi: 10.1371/journal.pone.0047845. Epub 2012 Oct 29.

12.

Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.

Fu R, Yanjanin NM, Elrick MJ, Ware C, Lieberman AP, Porter FD.

Am J Med Genet A. 2012 Nov;158A(11):2775-80. doi: 10.1002/ajmg.a.35395. Epub 2012 Sep 28.

13.

Growth charts for individuals with Smith-Lemli-Opitz syndrome.

Lee RW, McGready J, Conley SK, Yanjanin NM, Nowaczyk MJ, Porter FD.

Am J Med Genet A. 2012 Nov;158A(11):2707-13. doi: 10.1002/ajmg.a.35376. Epub 2012 May 21.

14.

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.

Speak AO, Platt N, Salio M, te Vruchte D, Smith DA, Shepherd D, Veerapen N, Besra GS, Yanjanin NM, Simmons L, Imrie J, Wraith JE, Lachmann RH, Hartung R, Runz H, Mengel E, Beck M, Hendriksz CJ, Porter FD, Cerundolo V, Platt FM.

Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun 14.

15.

Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C.

Shin J, Epperson K, Yanjanin NM, Albus J, Borgenheimer L, Bott N, Brennan E, Castellanos D, Cheng M, Clark M, Devany M, Ensslin C, Farivari N, Fernando S, Gabriel L, Gallardo R, Castleman M, Gutierrez O, Herschel A, Hodge S, Horst A, Howard M, James E, Jones L, Kearns M, Kelly M, Kim C, Kiser K, Klazura G, Knoedler C, Kolbus E, Lange L, Lee J, Li E, Lu W, Luttrell A, Ly E, McKeough K, McSorley B, Miller C, Mitchell S, Moon A, Moser K, O'Brien S, Olivieri P, Patzwahl A, Pereira M, Pymento C, Ramelb E, Ramos B, Raya T, Riney S, Roberts G, Robertshaw M, Rudolf F, Rund S, Sansone S, Schwartz L, Shay R, Siu E, Spear T, Tan C, Truong M, Uddin M, Vantrieste J, Veloz O, White E, Porter FD, Haldar K.

PLoS One. 2011;6(10):e23666. doi: 10.1371/journal.pone.0023666. Epub 2011 Oct 3. Erratum in: PLoS One. 2011;6(11); doi:10.1371/annotation/642295d5-8e46-467d-a9f9-2c6ee94116a9.

16.

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

Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS.

J Lipid Res. 2011 Jul;52(7):1435-45. doi: 10.1194/jlr.D015735. Epub 2011 Apr 24.

17.

Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study.

Mattsson N, Zetterberg H, Bianconi S, Yanjanin NM, Fu R, Månsson JE, Porter FD, Blennow K.

Neurology. 2011 Jan 25;76(4):366-72. doi: 10.1212/WNL.0b013e318208f4ab. Epub 2010 Dec 29.

18.

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

Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R, Dietzen DJ, Fu R, Wassif CA, Yanjanin NM, Marso SP, House J, Vite C, Schaffer JE, Ory DS.

Sci Transl Med. 2010 Nov 3;2(56):56ra81. doi: 10.1126/scitranslmed.3001417.

19.

Oxidative stress in Niemann-Pick disease, type C.

Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):214-8. doi: 10.1016/j.ymgme.2010.06.018. Epub 2010 Jul 27.

20.

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.

Yanjanin NM, Vélez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40. doi: 10.1002/ajmg.b.30969.

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