Porter FD - Search Results

1

NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.

Rodriguez-Gil JL, Watkins-Chow DE, Baxter LL, Yokoyama T, Zerfas PM, Starost MF, Gahl WA, Malicdan MCV, Porter FD, Platt FM, Pavan WJ. Rodriguez-Gil JL, et al. Among authors: porter fd. J Clin Med. 2019 Dec 19;9(1):12. doi: 10.3390/jcm9010012. J Clin Med. 2019. PMID: 31861571 Free PMC article.

2

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. Wassif CA, et al. Among authors: porter fd. Hum Mol Genet. 2007 May 15;16(10):1176-87. doi: 10.1093/hmg/ddm065. Epub 2007 Apr 2. Hum Mol Genet. 2007. PMID: 17403717

3

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. Yanjanin NM, et al. Among authors: porter fd. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40. doi: 10.1002/ajmg.b.30969. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19415691 Free PMC article.

4

Oxidative stress in Niemann-Pick disease, type C.

Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD. Fu R, et al. Among authors: 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. Mol Genet Metab. 2010. PMID: 20667755 Free PMC article.

5

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. Jiang X, et al. Among authors: porter fd. J Lipid Res. 2011 Jul;52(7):1435-45. doi: 10.1194/jlr.D015735. Epub 2011 Apr 24. J Lipid Res. 2011. PMID: 21518695 Free PMC article.

6

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. Speak AO, et al. Among authors: porter fd. Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun 14. Eur J Immunol. 2012. PMID: 22585405 Free PMC article.

7

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. Cluzeau CV, et al. Among authors: porter fd. Hum Mol Genet. 2012 Aug 15;21(16):3632-46. doi: 10.1093/hmg/dds193. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619379 Free PMC article.

8

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.

Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W. Xu M, et al. Among authors: porter fd. J Biol Chem. 2012 Nov 16;287(47):39349-60. doi: 10.1074/jbc.M112.357707. Epub 2012 Oct 3. J Biol Chem. 2012. PMID: 23035117 Free PMC article.

9

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. Fu R, et al. Among authors: porter fd. Hum Mol Genet. 2013 Sep 1;22(17):3508-23. doi: 10.1093/hmg/ddt206. Epub 2013 May 10. Hum Mol Genet. 2013. PMID: 23666527 Free PMC article. Clinical Trial.

10

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. Rodriguez-Gil JL, et al. Among authors: porter fd. Mol Genet Metab. 2013 Sep-Oct;110(1-2):188-90. doi: 10.1016/j.ymgme.2013.06.010. Epub 2013 Jun 21. Mol Genet Metab. 2013. PMID: 23850077 Free PMC article.

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