Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 147

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.

Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-β-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1.

Farmer CA, Thurm A, Farhat N, Bianconi S, Keener LA, Porter FD.

CNS Drugs. 2019 Jul;33(7):677-683. doi: 10.1007/s40263-019-00642-2.

PMID:
31187454
3.

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

Davidson J, Molitor E, Moores S, Gale SE, Subramanian K, Jiang X, Sidhu R, Kell P, Zhang J, Fujiwara H, Davidson C, Helquist P, Melancon BJ, Grigalunas M, Liu G, Salahi F, Wiest O, Xu X, Porter FD, Pipalia NH, Cruz DL, Holson EB, Schaffer JE, Walkley SU, Maxfield FR, Ory DS.

Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Apr 30. pii: S1388-1981(19)30064-2. doi: 10.1016/j.bbalip.2019.04.011. [Epub ahead of print]

PMID:
31051283
4.

Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model.

Pergande MR, Cougnoux A, Rathnayake RAC, Porter FD, Cologna SM.

Molecules. 2019 Mar 12;24(5). pii: E994. doi: 10.3390/molecules24050994.

5.

Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.

Bianconi SE, Hammond DI, Farhat NY, Dang Do A, Jenkins K, Cougnoux A, Martin K, Porter FD.

Mol Genet Metab. 2019 Apr;126(4):466-469. doi: 10.1016/j.ymgme.2019.02.004. Epub 2019 Feb 15.

PMID:
30850267
6.

Early Indicators of Creatine Transporter Deficiency.

Miller JS, Thomas RP, Bennett A, Bianconi S, Bruchey A, Davis RJ, Ficicioglu C, Guthrie W, Porter FD, Thurm A.

J Pediatr. 2019 Mar;206:283-285. doi: 10.1016/j.jpeds.2018.11.008. Epub 2018 Dec 20.

PMID:
30579583
7.

Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropyl-β-cyclodextrin.

Cougnoux A, Clifford S, Salman A, Ng SL, Bertin J, Porter FD.

Mol Genet Metab. 2018 Dec;125(4):345-350. doi: 10.1016/j.ymgme.2018.10.009. Epub 2018 Oct 30.

PMID:
30392741
8.

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.

Jiang X, Sidhu R, Orsini JJ, Farhat NY, Porter FD, Berry-Kravis E, Schaffer JE, Ory DS.

Mol Genet Metab. 2019 Feb;126(2):183-187. doi: 10.1016/j.ymgme.2018.08.007. Epub 2018 Aug 24.

PMID:
30172462
9.

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds.

Tseng WC, Loeb HE, Pei W, Tsai-Morris CH, Xu L, Cluzeau CV, Wassif CA, Feldman B, Burgess SM, Pavan WJ, Porter FD.

Dis Model Mech. 2018 Aug 15;11(9). pii: dmm034165. doi: 10.1242/dmm.034165.

10.

Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention.

Cougnoux A, Drummond RA, Collar AL, Iben JR, Salman A, Westgarth H, Wassif CA, Cawley NX, Farhat NY, Ozato K, Lionakis MS, Porter FD.

Hum Mol Genet. 2018 Jun 15;27(12):2076-2089. doi: 10.1093/hmg/ddy112.

11.

Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.

Berry-Kravis E, Chin J, Hoffmann A, Winston A, Stoner R, LaGorio L, Friedmann K, Hernandez M, Ory DS, Porter FD, O'Keefe JA.

Pediatr Neurol. 2018 Mar;80:24-34. doi: 10.1016/j.pediatrneurol.2017.12.014. Epub 2018 Jan 8.

12.

Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1.

Yergey AL, Blank PS, Cologna SM, Backlund PS, Porter FD, Darling AJ.

PLoS One. 2018 Feb 1;13(2):e0192424. doi: 10.1371/journal.pone.0192424. eCollection 2018.

13.

Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model.

Cougnoux A, Movassaghi M, Picache JA, Iben JR, Navid F, Salman A, Martin K, Farhat NY, Cluzeau C, Tseng WC, Burkert K, Sojka C, Wassif CA, Cawley NX, Bonnet R, Porter FD.

Dig Dis Sci. 2018 Apr;63(4):870-880. doi: 10.1007/s10620-018-4914-x. Epub 2018 Jan 22.

14.

Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.

Dang Do AN, Baker EH, Warren KE, Bianconi SE, Porter FD.

Am J Med Genet A. 2018 Feb;176(2):386-390. doi: 10.1002/ajmg.a.38563. Epub 2017 Dec 11.

15.

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1.

Lau MW, Lee RW, Miyamoto R, Jung ES, Yanjanin Farhat N, Yoshida S, Mori S, Gropman A, Baker EH, Porter FD.

Diseases. 2016 Sep 8;4(3). pii: E29. doi: 10.3390/diseases4030029.

16.

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.

Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD.

Lancet. 2017 Oct 14;390(10104):1758-1768. doi: 10.1016/S0140-6736(17)31465-4. Epub 2017 Aug 10.

17.

Vitamin D levels in Smith-Lemli-Opitz syndrome.

Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD.

Am J Med Genet A. 2017 Oct;173(10):2577-2583. doi: 10.1002/ajmg.a.38361. Epub 2017 Aug 10.

18.

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.

Probert F, Ruiz-Rodado V, Vruchte DT, Nicoli ER, Claridge TDW, Wassif CA, Farhat N, Porter FD, Platt FM, Grootveld M.

Sci Rep. 2017 Jul 24;7(1):6320. doi: 10.1038/s41598-017-06264-2.

19.

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK.

Dai S, Dulcey AE, Hu X, Wassif CA, Porter FD, Austin CP, Ory DS, Marugan J, Zheng W.

Autophagy. 2017 Aug 3;13(8):1435-1451. doi: 10.1080/15548627.2017.1329081. Epub 2017 Jun 14.

20.

Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1.

Yergey AL, Blank PS, Cologna SM, Backlund PS, Porter FD, Darling AJ.

PLoS One. 2017 Apr 17;12(4):e0175478. doi: 10.1371/journal.pone.0175478. eCollection 2017. Erratum in: PLoS One. 2018 Feb 1;13(2):e0192424.

21.

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA.

Am J Med Genet A. 2017 Aug;173(8):2097-2100. doi: 10.1002/ajmg.a.38125. Epub 2017 Mar 27.

22.

Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients.

Salman A, Cougnoux A, Farhat N, Wassif CA, Porter FD.

Am J Med Genet A. 2017 Apr;173(4):1038-1040. doi: 10.1002/ajmg.a.38104. No abstract available.

PMID:
28328115
23.

Trifunctional lipid probes for comprehensive studies of single lipid species in living cells.

Höglinger D, Nadler A, Haberkant P, Kirkpatrick J, Schifferer M, Stein F, Hauke S, Porter FD, Schultz C.

Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):1566-1571. doi: 10.1073/pnas.1611096114. Epub 2017 Feb 2.

24.

FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.

Newton J, Hait NC, Maceyka M, Colaco A, Maczis M, Wassif CA, Cougnoux A, Porter FD, Milstien S, Platt N, Platt FM, Spiegel S.

FASEB J. 2017 Apr;31(4):1719-1730. doi: 10.1096/fj.201601041R. Epub 2017 Jan 12.

25.

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Walkley SU, Davidson CD, Jacoby J, Marella PD, Ottinger EA, Austin CP, Porter FD, Vite CH, Ory DS.

Orphanet J Rare Dis. 2016 Dec 1;11(1):161.

26.

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.

Chandler RJ, Williams IM, Gibson AL, Davidson CD, Incao AA, Hubbard BT, Porter FD, Pavan WJ, Venditti CP.

Hum Mol Genet. 2017 Jan 1;26(1):52-64. doi: 10.1093/hmg/ddw367.

27.

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD.

Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11.

28.

Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.

Cologna SM, Shieh C, Toth CL, Cougnoux A, Burkert KR, Bianconi SE, Wassif CA, Porter FD.

Am J Med Genet A. 2016 Aug;170(8):2060-2068. doi: 10.1002/ajmg.a.37720. Epub 2016 May 5.

29.

Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS.

Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326.

30.

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Mazzacuva F, Mills P, Mills K, Camuzeaux S, Gissen P, Nicoli ER, Wassif C, Te Vruchte D, Porter FD, Maekawa M, Mano N, Iida T, Platt F, Clayton PT.

FEBS Lett. 2016 Jun;590(11):1651-62. doi: 10.1002/1873-3468.12196. Epub 2016 May 27.

31.

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.

Thurm A, Tierney E, Farmer C, Albert P, Joseph L, Swedo S, Bianconi S, Bukelis I, Wheeler C, Sarphare G, Lanham D, Wassif CA, Porter FD.

J Neurodev Disord. 2016 Apr 5;8:12. doi: 10.1186/s11689-016-9145-x. eCollection 2016.

32.

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.

Nicoli ER, Al Eisa N, Cluzeau CV, Wassif CA, Gray J, Burkert KR, Smith DA, Morris L, Cologna SM, Peer CJ, Sissung TM, Uscatu CD, Figg WD, Pavan WJ, Vite CH, Porter FD, Platt FM.

PLoS One. 2016 Mar 28;11(3):e0152007. doi: 10.1371/journal.pone.0152007. eCollection 2016.

33.

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.

Francis KR, Ton AN, Xin Y, O'Halloran PE, Wassif CA, Malik N, Williams IM, Cluzeau CV, Trivedi NS, Pavan WJ, Cho W, Westphal H, Porter FD.

Nat Med. 2016 Apr;22(4):388-96. doi: 10.1038/nm.4067. Epub 2016 Mar 21.

34.

Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target.

Cougnoux A, Cluzeau C, Mitra S, Li R, Williams I, Burkert K, Xu X, Wassif CA, Zheng W, Porter FD.

Cell Death Dis. 2016 Mar 17;7:e2147. doi: 10.1038/cddis.2016.16.

35.

A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.

Darnell AJ, Austin H, Bluemke DA, Cannon RO 3rd, Fischbeck K, Gahl W, Goldman D, Grady C, Greene MH, Holland SM, Hull SC, Porter FD, Resnik D, Rubinstein WS, Biesecker LG.

Am J Hum Genet. 2016 Mar 3;98(3):435-441. doi: 10.1016/j.ajhg.2016.01.010.

36.

Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV.

Park S, Ahuja M, Kim MS, Brailoiu GC, Jha A, Zeng M, Baydyuk M, Wu LG, Wassif CA, Porter FD, Zerfas PM, Eckhaus MA, Brailoiu E, Shin DM, Muallem S.

EMBO Rep. 2016 Feb;17(2):266-78. doi: 10.15252/embr.201541542. Epub 2015 Dec 18.

37.

Intracellular sphingosine releases calcium from lysosomes.

Höglinger D, Haberkant P, Aguilera-Romero A, Riezman H, Porter FD, Platt FM, Galione A, Schultz C.

Elife. 2015 Nov 27;4. pii: e10616. doi: 10.7554/eLife.10616.

38.

Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1.

Thurm A, Farmer C, Farhat NY, Wiggs E, Black D, Porter FD.

Dev Med Child Neurol. 2016 Mar;58(3):262-9. doi: 10.1111/dmcn.12970. Epub 2015 Nov 19.

39.

An Efficient Approach to Evaluate Reporter Ion Behavior from MALDI-MS/MS Data for Quantification Studies Using Isobaric Tags.

Cologna SM, Crutchfield CA, Searle BC, Blank PS, Toth CL, Ely AM, Picache JA, Backlund PS, Wassif CA, Porter FD, Yergey AL.

J Proteome Res. 2015 Oct 2;14(10):4169-78. doi: 10.1021/acs.jproteome.5b00254. Epub 2015 Sep 3.

40.

Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex.

London E, Wassif CA, Horvath A, Tatsi C, Angelousi A, Karageorgiadis AS, Porter FD, Stratakis CA.

J Clin Endocrinol Metab. 2015 Oct;100(10):3660-7. doi: 10.1210/jc.2015-2212. Epub 2015 Jul 23.

41.

Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.

Maarup TJ, Chen AH, Porter FD, Farhat NY, Ory DS, Sidhu R, Jiang X, Dickson PI.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):75-9. doi: 10.1016/j.ymgme.2015.07.001. Epub 2015 Jul 15.

42.

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A.

Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1.

43.

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid.

Sidhu R, Jiang H, Farhat NY, Carrillo-Carrasco N, Woolery M, Ottinger E, Porter FD, Schaffer JE, Ory DS, Jiang X.

J Lipid Res. 2015 Jun;56(6):1222-33. doi: 10.1194/jlr.D058487. Epub 2015 Apr 12.

44.

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, Ory DS, Ponting CP, Bailey-Wilson JE, Biesecker LG, Porter FD.

Genet Med. 2016 Jan;18(1):41-8. doi: 10.1038/gim.2015.25. Epub 2015 Mar 12.

45.

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Bianconi SE, Cross JL, Wassif CA, Porter FD.

Expert Opin Orphan Drugs. 2015 Mar;3(3):267-280.

46.

Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling.

Efthymiou AG, Steiner J, Pavan WJ, Wincovitch S, Larson DM, Porter FD, Rao MS, Malik N.

Stem Cells Transl Med. 2015 Mar;4(3):230-8. doi: 10.5966/sctm.2014-0127. Epub 2015 Jan 30.

47.

Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1.

Lee R, Apkarian K, Jung ES, Yanjanin N, Yoshida S, Mori S, Park J, Gropman A, Baker EH, Porter FD.

Pediatr Neurol. 2014 Nov;51(5):669-674.e5. doi: 10.1016/j.pediatrneurol.2014.07.028. Epub 2014 Jul 28.

48.

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Platt FM, Wassif C, Colaco A, Dardis A, Lloyd-Evans E, Bembi B, Porter FD.

Annu Rev Genomics Hum Genet. 2014;15:173-94. doi: 10.1146/annurev-genom-091212-153412.

49.

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.

50.

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.

Schreiber JM, Lanham DC, Trescher WH, Sparks SE, Wassif CA, Caffo BS, Porter FD, Tierney E, Gropman AL, Ewen JB.

Neurology. 2014 Jul 8;83(2):151-9. doi: 10.1212/WNL.0000000000000565. Epub 2014 Jun 11.

Supplemental Content

Loading ...
Support Center