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Items: 1 to 50 of 184

1.

Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice.

Moreau D, Vacca F, Vossio S, Scott C, Colaco A, Paz Montoya J, Ferguson C, Damme M, Moniatte M, Parton RG, Platt FM, Gruenberg J.

EMBO Rep. 2019 Jul;20(7):e47055. doi: 10.15252/embr.201847055. Epub 2019 May 22.

2.

Synthesis and Study of Multifunctional Cyclodextrin-Deferasirox Hybrids.

Gascon JM, Oliveri V, McGown A, Kaya E, Chen YL, Austin C, Walker M, Platt FM, Vecchio G, Spencer J.

ChemMedChem. 2019 Aug 20;14(16):1484-1492. doi: 10.1002/cmdc.201900334. Epub 2019 Jun 24.

PMID:
31162826
3.

Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice.

Moreau D, Vacca F, Vossio S, Scott C, Colaco A, Paz Montoya J, Ferguson C, Damme M, Moniatte M, Parton RG, Platt FM, Gruenberg J.

EMBO Rep. 2019 May 22. pii: e47055. doi: 10.15252/embr.201847055. [Epub ahead of print]

4.

Publisher Correction: Lysosomal storage diseases.

Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

Nat Rev Dis Primers. 2019 May 17;5(1):34. doi: 10.1038/s41572-019-0089-9.

PMID:
31101820
5.

Age-related gait standards for healthy children and young people: the GOS-ICH paediatric gait centiles.

Alderson LM, Joksaite SX, Kemp J, Main E, Watson T, Platt FM, Cortina-Borja M.

Arch Dis Child. 2019 Aug;104(8):755-760. doi: 10.1136/archdischild-2018-316311. Epub 2019 Mar 25.

PMID:
30910816
6.

TLR9-mediated dendritic cell activation uncovers mammalian ganglioside species with specific ceramide backbones that activate invariant natural killer T cells.

Paget C, Deng S, Soulard D, Priestman DA, Speca S, von Gerichten J, Speak AO, Saroha A, Pewzner-Jung Y, Futerman AH, Mallevaey T, Faveeuw C, Gu X, Platt FM, Sandhoff R, Trottein F.

PLoS Biol. 2019 Mar 1;17(3):e3000169. doi: 10.1371/journal.pbio.3000169. eCollection 2019 Mar.

7.

Author Correction: Lysosomal storage diseases.

Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

Nat Rev Dis Primers. 2018 Oct 18;4(1):36. doi: 10.1038/s41572-018-0037-0.

PMID:
30337566
8.

Lysosomal storage diseases.

Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Review. Erratum in: Nat Rev Dis Primers. 2018 Oct 18;4(1):36. Nat Rev Dis Primers. 2019 May 17;5(1):34.

PMID:
30275469
9.

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.

Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM.

Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9.

10.

Fetal gene therapy for neurodegenerative disease of infants.

Massaro G, Mattar CNZ, Wong AMS, Sirka E, Buckley SMK, Herbert BR, Karlsson S, Perocheau DP, Burke D, Heales S, Richard-Londt A, Brandner S, Huebecker M, Priestman DA, Platt FM, Mills K, Biswas A, Cooper JD, Chan JKY, Cheng SH, Waddington SN, Rahim AA.

Nat Med. 2018 Sep;24(9):1317-1323. doi: 10.1038/s41591-018-0106-7. Epub 2018 Jul 16.

11.

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease.

Hughes MP, Smith DA, Morris L, Fletcher C, Colaco A, Huebecker M, Tordo J, Palomar N, Massaro G, Henckaerts E, Waddington SN, Platt FM, Rahim AA.

Hum Mol Genet. 2018 Sep 1;27(17):3079-3098. doi: 10.1093/hmg/ddy212.

12.

Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain.

Hallett PJ, Huebecker M, Brekk OR, Moloney EB, Rocha EM, Priestman DA, Platt FM, Isacson O.

Neurobiol Aging. 2018 Jul;67:189-200. doi: 10.1016/j.neurobiolaging.2018.02.028. Epub 2018 Mar 29.

13.

Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.

Somogyi A, Petcherski A, Beckert B, Huebecker M, Priestman DA, Banning A, Cotman SL, Platt FM, Ruonala MO, Tikkanen R.

Int J Mol Sci. 2018 Feb 22;19(2). pii: E625. doi: 10.3390/ijms19020625.

14.

GM1 ganglioside-independent intoxication by Cholera toxin.

Cervin J, Wands AM, Casselbrant A, Wu H, Krishnamurthy S, Cvjetkovic A, Estelius J, Dedic B, Sethi A, Wallom KL, Riise R, Bäckström M, Wallenius V, Platt FM, Lebens M, Teneberg S, Fändriks L, Kohler JJ, Yrlid U.

PLoS Pathog. 2018 Feb 12;14(2):e1006862. doi: 10.1371/journal.ppat.1006862. eCollection 2018 Feb.

15.

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

Stepien KM, Lum SH, Wraith JE, Hendriksz CJ, Church HJ, Priestman D, Platt FM, Jones S, Jovanovic A, Wynn R.

JIMD Rep. 2018;41:17-23. doi: 10.1007/8904_2017_76. Epub 2017 Dec 7.

16.

Emptying the stores: lysosomal diseases and therapeutic strategies.

Platt FM.

Nat Rev Drug Discov. 2018 Feb;17(2):133-150. doi: 10.1038/nrd.2017.214. Epub 2017 Nov 17. Review.

PMID:
29147032
17.

Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.

Hurst CD, Alder O, Platt FM, Droop A, Stead LF, Burns JE, Burghel GJ, Jain S, Klimczak LJ, Lindsay H, Roulson JA, Taylor CF, Thygesen H, Cameron AJ, Ridley AJ, Mott HR, Gordenin DA, Knowles MA.

Cancer Cell. 2017 Nov 13;32(5):701-715.e7. doi: 10.1016/j.ccell.2017.08.005.

18.

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases.

Evans WRH, Nicoli ER, Wang RY, Movsesyan N, Platt FM.

Wellcome Open Res. 2017 Aug 31;2:75. doi: 10.12688/wellcomeopenres.11854.1. eCollection 2017.

19.

Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C.

Nicoli ER, Huebecker M, Smith D, Morris L, Platt FM.

Wellcome Open Res. 2017 Aug 31;2:76. doi: 10.12688/wellcomeopenres.12431.2. eCollection 2017.

20.

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.

21.

Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis.

Henriques A, Huebecker M, Blasco H, Keime C, Andres CR, Corcia P, Priestman DA, Platt FM, Spedding M, Loeffler JP.

Sci Rep. 2017 Jul 12;7(1):5235. doi: 10.1038/s41598-017-05313-0.

22.

Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.

Pan X, De Aragão CBP, Velasco-Martin JP, Priestman DA, Wu HY, Takahashi K, Yamaguchi K, Sturiale L, Garozzo D, Platt FM, Lamarche-Vane N, Morales CR, Miyagi T, Pshezhetsky AV.

FASEB J. 2017 Aug;31(8):3467-3483. doi: 10.1096/fj.201601299R. Epub 2017 Apr 25.

PMID:
28442549
23.

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency.

Tharkeshwar AK, Trekker J, Vermeire W, Pauwels J, Sannerud R, Priestman DA, Te Vruchte D, Vints K, Baatsen P, Decuypere JP, Lu H, Martin S, Vangheluwe P, Swinnen JV, Lagae L, Impens F, Platt FM, Gevaert K, Annaert W.

Sci Rep. 2017 Jan 30;7:41408. doi: 10.1038/srep41408.

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.

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway.

Fineran P, Lloyd-Evans E, Lack NA, Platt N, Davis LC, Morgan AJ, Höglinger D, Tatituri RVV, Clark S, Williams IM, Tynan P, Al Eisa N, Nazarova E, Williams A, Galione A, Ory DS, Besra GS, Russell DG, Brenner MB, Sim E, Platt FM.

Wellcome Open Res. 2016 Nov 18;1:18. doi: 10.12688/wellcomeopenres.10036.2.

26.

The metabolism of glucocerebrosides - From 1965 to the present.

Futerman AH, Platt FM.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):22-26. doi: 10.1016/j.ymgme.2016.11.390. Epub 2016 Dec 2. Review.

PMID:
27955980
27.

Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.

Kirkegaard T, Gray J, Priestman DA, Wallom KL, Atkins J, Olsen OD, Klein A, Drndarski S, Petersen NH, Ingemann L, Smith DA, Morris L, Bornæs C, Jørgensen SH, Williams I, Hinsby A, Arenz C, Begley D, Jäättelä M, Platt FM.

Sci Transl Med. 2016 Sep 7;8(355):355ra118. doi: 10.1126/scitranslmed.aad9823.

PMID:
27605553
28.

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
29.

Preferential Coupling of the NAADP Pathway to Exocytosis in T-Cells.

Davis LC, Platt FM, Galione A.

Messenger (Los Angel). 2015 Jun;4(1):53-66.

30.

Silencing the porcine iGb3s gene does not affect Galα3Gal levels or measures of anticipated pig-to-human and pig-to-primate acute rejection.

Butler JR, Skill NJ, Priestman DL, Platt FM, Li P, Estrada JL, Martens GR, Ladowski JM, Tector M, Tector AJ.

Xenotransplantation. 2016 Mar;23(2):106-16. doi: 10.1111/xen.12217. Epub 2016 Jan 11.

31.

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.

32.

Chemoenzymatic Synthesis of a Phosphorylated Glycoprotein.

Priyanka P, Parsons TB, Miller A, Platt FM, Fairbanks AJ.

Angew Chem Int Ed Engl. 2016 Apr 11;55(16):5058-61. doi: 10.1002/anie.201600817. Epub 2016 Mar 11.

PMID:
26971709
33.

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.

Schwerd T, Pandey S, Yang HT, Bagola K, Jameson E, Jung J, Lachmann RH, Shah N, Patel SY, Booth C, Runz H, Düker G, Bettels R, Rohrbach M, Kugathasan S, Chapel H, Keshav S, Elkadri A, Platt N, Muise AM, Koletzko S, Xavier RJ, Marquardt T, Powrie F, Wraith JE, Gyrd-Hansen M, Platt FM, Uhlig HH.

Gut. 2017 Jun;66(6):1060-1073. doi: 10.1136/gutjnl-2015-310382. Epub 2016 Mar 7.

34.

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.

35.

Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase.

Henriques A, Croixmarie V, Priestman DA, Rosenbohm A, Dirrig-Grosch S, D'Ambra E, Huebecker M, Hussain G, Boursier-Neyret C, Echaniz-Laguna A, Ludolph AC, Platt FM, Walther B, Spedding M, Loeffler JP, Gonzalez De Aguilar JL.

Hum Mol Genet. 2015 Dec 20;24(25):7390-405. doi: 10.1093/hmg/ddv439. Epub 2015 Oct 19.

36.

Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease.

Richardson K, Livieratos A, Dumbill R, Hughes S, Ang G, Smith DA, Morris L, Brown LA, Peirson SN, Platt FM, Davies KE, Oliver PL.

Behav Brain Res. 2016 Jan 15;297:213-23. doi: 10.1016/j.bbr.2015.10.021. Epub 2015 Oct 20.

37.

Urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick type C1 disease: One- and two-dimensional solution-state (1)H NMR studies.

Probert F, Ruiz-Rodado V, Zhang X, te Vruchte D, Claridge TD, Edgar M, Tocchio AZ, Lachmann RH, Platt FM, Grootveld M.

J Pharm Biomed Anal. 2016 Jan 5;117:276-88. doi: 10.1016/j.jpba.2015.08.011. Epub 2015 Aug 13.

PMID:
26397207
38.

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.

Cismondi IA, Kohan R, Adams H, Bond M, Brown R, Cooper JD, de Hidalgo PK, Holthaus SM, Mole SE, Mugnaini J, de Ramirez AM, Pesaola F, Rautenberg G, Platt FM, Noher de Halac I.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2316-23. doi: 10.1016/j.bbadis.2015.06.018. Epub 2015 Jun 24.

39.

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.

40.

Bridging the age spectrum of neurodegenerative storage diseases.

Boland B, Platt FM.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):127-43. doi: 10.1016/j.beem.2014.08.009. Epub 2014 Sep 1. Review.

PMID:
25987168
41.

Immune dysfunction in Niemann-Pick disease type C.

Platt N, Speak AO, Colaco A, Gray J, Smith DA, Williams IM, Wallom KL, Platt FM.

J Neurochem. 2016 Jan;136 Suppl 1:74-80. doi: 10.1111/jnc.13138. Epub 2015 Jun 4. Review.

42.

Expression of Ca²⁺-permeable two-pore channels rescues NAADP signalling in TPC-deficient cells.

Ruas M, Davis LC, Chen CC, Morgan AJ, Chuang KT, Walseth TF, Grimm C, Garnham C, Powell T, Platt N, Platt FM, Biel M, Wahl-Schott C, Parrington J, Galione A.

EMBO J. 2015 Jul 2;34(13):1743-58. doi: 10.15252/embj.201490009. Epub 2015 Apr 14.

43.

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.

44.

Measuring relative lysosomal volume for monitoring lysosomal storage diseases.

te Vruchte D, Wallom KL, Platt FM.

Methods Cell Biol. 2015;126:331-47. doi: 10.1016/bs.mcb.2014.10.027. Epub 2015 Jan 14.

PMID:
25665453
45.

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease.

Bradbury AM, Gray-Edwards HL, Shirley JL, McCurdy VJ, Colaco AN, Randle AN, Christopherson PW, Bird AC, Johnson AK, Wilson DU, Hudson JA, De Pompa NL, Sorjonen DC, Brunson BL, Jeyakumar M, Platt FM, Baker HJ, Cox NR, Sena-Esteves M, Martin DR.

Exp Neurol. 2015 Jan;263:102-12. doi: 10.1016/j.expneurol.2014.09.020. Epub 2014 Oct 5.

46.

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.

47.

A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.

Paton L, Bitoun E, Kenyon J, Priestman DA, Oliver PL, Edwards B, Platt FM, Davies KE.

J Biol Chem. 2014 Sep 26;289(39):26709-21. doi: 10.1074/jbc.M114.586156. Epub 2014 Aug 8.

48.

Sphingolipid lysosomal storage disorders.

Platt FM.

Nature. 2014 Jun 5;510(7503):68-75. doi: 10.1038/nature13476. Review.

PMID:
24899306
49.

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice.

Williams IM, Wallom KL, Smith DA, Al Eisa N, Smith C, Platt FM.

Neurobiol Dis. 2014 Jul;67:9-17. doi: 10.1016/j.nbd.2014.03.001. Epub 2014 Mar 12.

PMID:
24631719
50.

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.

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