News & Publications for:

Daniel Ory

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of niemann-pick disease, type C1

Posted on September 3, 2013

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; (2013) Human Molecular Genetics, 22 (17), art. no. ddt206, pp. 3508-3523. Read More

Posted in: HPAN, Publications Faculty:

Three medical faculty named Wolff professors

Posted on August 29, 2013

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Posted in: HPAN, News Faculty:

A Sensitive and Specific LC-MS/MS Method for Rapid Diagnosis of Niemann-Pick C1 Disease from Human Plasma

Posted on October 13, 2011

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 (2011). J Lipid Res, 52:1435-1445
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Posted in: HPAN, Neurodegeneration, Publications Faculty:

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

Posted on October 13, 2010

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 (2010). Sci Transl Med, 2(56):56ra81
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Posted in: HPAN, Neurodegeneration, Publications Faculty:

NPC1 I1061T mutant encodes a functional protein that is selected for ER-associated degradation due to protein misfolding

Posted on October 13, 2008

Gelsthorpe ME, Baumann N, Millard E, Gale SE, Langmade SJ, Schaffer JE, Ory DS (2008). J Biol Chem, 283(13):8229-36
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Posted in: HPAN, Neurodegeneration, Publications Faculty: