Wassif CA - Search Results

1

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. te Vruchte D, et al. Among authors: wassif ca. J Clin Invest. 2014 Mar;124(3):1320-8. doi: 10.1172/JCI72835. J Clin Invest. 2014. PMID: 24487591 Free PMC article.

2

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.

Wassif CA, Vied D, Tsokos M, Connor WE, Steiner RD, Porter FD. Wassif CA, et al. Mol Genet Metab. 2002 Apr;75(4):325-34. doi: 10.1016/S1096-7192(02)00010-0. Mol Genet Metab. 2002. PMID: 12051964

3

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

Koo G, Conley SK, Wassif CA, Porter FD. Koo G, et al. Among authors: wassif ca. Am J Med Genet A. 2010 Aug;152A(8):2094-8. doi: 10.1002/ajmg.a.33540. Am J Med Genet A. 2010. PMID: 20635399 Free PMC article.

4

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. Porter FD, et al. Among authors: wassif ca. Sci Transl Med. 2010 Nov 3;2(56):56ra81. doi: 10.1126/scitranslmed.3001417. Sci Transl Med. 2010. PMID: 21048217 Free PMC article.

5

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: wassif ca. 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.

6

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. Cologna SM, et al. Among authors: wassif ca. PLoS One. 2012;7(10):e47845. doi: 10.1371/journal.pone.0047845. Epub 2012 Oct 29. PLoS One. 2012. PMID: 23144710 Free PMC article.

7

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. Cologna SM, et al. Among authors: wassif ca. J Inherit Metab Dis. 2014 Jan;37(1):83-92. doi: 10.1007/s10545-013-9610-6. Epub 2013 May 8. J Inherit Metab Dis. 2014. PMID: 23653225 Free PMC article.

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. Fu R, et al. Among authors: wassif ca. 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.

9

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: wassif ca. 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.

10

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. King KA, et al. Among authors: wassif ca. J Assoc Res Otolaryngol. 2014 Aug;15(4):529-41. doi: 10.1007/s10162-014-0459-7. Epub 2014 May 17. J Assoc Res Otolaryngol. 2014. PMID: 24839095 Free PMC article.

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