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Items: 1 to 50 of 61

1.

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.

2.

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.

3.

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.

4.

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.

5.

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.

6.

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.

7.

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
8.

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.

9.

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.

10.

1H NMR-Linked Metabolomics Analysis of Liver from a Mouse Model of NP-C1 Disease.

Ruiz-Rodado V, Nicoli ER, Probert F, Smith DA, Morris L, Wassif CA, Platt FM, Grootveld M.

J Proteome Res. 2016 Oct 7;15(10):3511-3527. Epub 2016 Aug 30.

PMID:
27503774
11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

21.

Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

Xekouki P, Szarek E, Bullova P, Giubellino A, Quezado M, Mastroyannis SA, Mastorakos P, Wassif CA, Raygada M, Rentia N, Dye L, Cougnoux A, Koziol D, Sierra Mde L, Lyssikatos C, Belyavskaya E, Malchoff C, Moline J, Eng C, Maher LJ 3rd, Pacak K, Lodish M, Stratakis CA.

J Clin Endocrinol Metab. 2015 May;100(5):E710-9. doi: 10.1210/jc.2014-4297. Epub 2015 Feb 19.

22.

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.

23.

Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.

King KA, Gordon-Salant S, Pawlowski KS, Taylor AM, Griffith AJ, Houser A, Kurima K, Wassif CA, Wright CG, Porter FD, Repa JJ, Brewer CC.

J Assoc Res Otolaryngol. 2014 Aug;15(4):529-41. doi: 10.1007/s10162-014-0459-7. Epub 2014 May 17.

24.

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

Cross JL, Iben J, Simpson CL, Thurm A, Swedo S, Tierney E, Bailey-Wilson JE, Biesecker LG, Porter FD, Wassif CA.

Clin Genet. 2015 Jun;87(6):570-5. doi: 10.1111/cge.12425. Epub 2014 Jun 6.

25.

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD.

J Inherit Metab Dis. 2014 May;37(3):415-20. doi: 10.1007/s10545-013-9672-5. Epub 2014 Feb 6.

26.

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.

27.

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.

28.

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

Ellingson MS, Wick MJ, White WM, Raymond KM, Saenger AK, Pichurin PN, Wassif CA, Porter FD, Babovic-Vuksanovic D.

Clin Genet. 2014 May;85(5):495-7. doi: 10.1111/cge.12209. Epub 2013 Jun 24. No abstract available.

29.

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.

30.

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.

31.

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.

32.

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Cluzeau CV, Watkins-Chow DE, Fu R, Borate B, Yanjanin N, Dail MK, Davidson CD, Walkley SU, Ory DS, Wassif CA, Pavan WJ, Porter FD.

Hum Mol Genet. 2012 Aug 15;21(16):3632-46. doi: 10.1093/hmg/dds193. Epub 2012 May 22.

33.

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

Xekouki P, Pacak K, Almeida M, Wassif CA, Rustin P, Nesterova M, de la Luz Sierra M, Matro J, Ball E, Azevedo M, Horvath A, Lyssikatos C, Quezado M, Patronas N, Ferrando B, Pasini B, Lytras A, Tolis G, Stratakis CA.

J Clin Endocrinol Metab. 2012 Mar;97(3):E357-66. doi: 10.1210/jc.2011-1179. Epub 2011 Dec 14.

34.

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.

35.

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.

Matabosch X, Ying L, Serra M, Wassif CA, Porter FD, Shackleton C, Watson G.

J Steroid Biochem Mol Biol. 2010 Nov;122(5):303-9. doi: 10.1016/j.jsbmb.2010.08.004. Epub 2010 Aug 26.

36.

Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome.

Patti GJ, Shriver LP, Wassif CA, Woo HK, Uritboonthai W, Apon J, Manchester M, Porter FD, Siuzdak G.

Neuroscience. 2010 Oct 27;170(3):858-64. doi: 10.1016/j.neuroscience.2010.07.038. Epub 2010 Jul 27.

37.

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

Koo G, Conley SK, Wassif CA, Porter FD.

Am J Med Genet A. 2010 Aug;152A(8):2094-8. doi: 10.1002/ajmg.a.33540.

38.

Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.

Jiang XS, Backlund PS, Wassif CA, Yergey AL, Porter FD.

Mol Cell Proteomics. 2010 Jul;9(7):1461-75. doi: 10.1074/mcp.M900548-MCP200. Epub 2010 Mar 19.

39.

Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.

Jiang XS, Wassif CA, Backlund PS, Song L, Holtzclaw LA, Li Z, Yergey AL, Porter FD.

Hum Mol Genet. 2010 Apr 1;19(7):1347-57. doi: 10.1093/hmg/ddq011. Epub 2010 Jan 12.

40.

LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth.

Tzchori I, Day TF, Carolan PJ, Zhao Y, Wassif CA, Li L, Lewandoski M, Gorivodsky M, Love PE, Porter FD, Westphal H, Yang Y.

Development. 2009 Apr;136(8):1375-85. doi: 10.1242/dev.026476.

41.

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome.

Lindegaard ML, Wassif CA, Vaisman B, Amar M, Wasmuth EV, Shamburek R, Nielsen LB, Remaley AT, Porter FD.

Hum Mol Genet. 2008 Dec 1;17(23):3806-13. doi: 10.1093/hmg/ddn278. Epub 2008 Sep 5.

42.

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.

Wassif CA, Brownson KE, Sterner AL, Forlino A, Zerfas PM, Wilson WK, Starost MF, Porter FD.

Hum Mol Genet. 2007 May 15;16(10):1176-87. Epub 2007 Apr 2.

PMID:
17403717
43.

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature.

Gondré-Lewis MC, Petrache HI, Wassif CA, Harries D, Parsegian A, Porter FD, Loh YP.

J Cell Sci. 2006 May 1;119(Pt 9):1876-85.

44.

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness.

Kovarova M, Wassif CA, Odom S, Liao K, Porter FD, Rivera J.

J Exp Med. 2006 May 15;203(5):1161-71. Epub 2006 Apr 17.

45.

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

Correa-Cerro LS, Wassif CA, Kratz L, Miller GF, Munasinghe JP, Grinberg A, Fliesler SJ, Porter FD.

Hum Mol Genet. 2006 Mar 15;15(6):839-51. Epub 2006 Jan 30.

PMID:
16446309
46.

Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.

Shinawi M, Szabo S, Popek E, Wassif CA, Porter FD, Potocki L.

Am J Med Genet A. 2005 Sep 15;138(1):56-60. Review.

PMID:
16097001
47.

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

Waye JS, Krakowiak PA, Wassif CA, Sterner AL, Eng B, Nakamura LM, Nowaczyk MJ, Porter FD.

Hum Mutat. 2005 Jul;26(1):59.

PMID:
15954111
48.

DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.

Scalco FB, Correa-Cerro LS, Wassif CA, Porter FD, Moretti-Ferreira D.

Am J Med Genet A. 2005 Jul 30;136(3):278-81. No abstract available.

PMID:
15952211
49.

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.

Wassif CA, Krakowiak PA, Wright BS, Gewandter JS, Sterner AL, Javitt N, Yergey AL, Porter FD.

Mol Genet Metab. 2005 Jun;85(2):96-107. Epub 2005 Feb 5.

PMID:
15896653
50.

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.

Correa-Cerro LS, Wassif CA, Waye JS, Krakowiak PA, Cozma D, Dobson NR, Levin SW, Anadiotis G, Steiner RD, Krajewska-Walasek M, Nowaczyk MJ, Porter FD.

J Med Genet. 2005 Apr;42(4):350-7. No abstract available.

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