Seibert K, Smith H, Lapins A, Pytel P, Mastrianni JA
A Novel TBK1 Variant (Lys694del) Presenting With Corticobasal Syndrome in a Family With FTD-ALS Spectrum Diseases: Case Report. Front Neurol. 2022; 13:826676.
PMID: 35309588
Generation of human chronic wasting disease in transgenic mice.
Wang Z, Qin K, Camacho MV, Cali I, Yuan J, Shen P, Greenlee J, Kong Q, Mastrianni JA, Zou WQ
Generation of human chronic wasting disease in transgenic mice. Acta Neuropathol Commun. 2021 09 26; 9(1):158.
PMID: 34565488
An atypical presentation of primary central nervous system lymphoma: A case report.
Yuen CA, Mastrianni J, Ali S, Pytel P, Park DM, Rezania K
An atypical presentation of primary central nervous system lymphoma: A case report. Medicine (Baltimore). 2020 Sep 18; 99(38):e22062.
PMID: 32957327
A novel PRNP-G131R variant associated with familial prion disease.
Alshaikh JT, Qin K, Zhao L, Mastrianni JA
A novel PRNP-G131R variant associated with familial prion disease. Neurol Genet. 2020 Aug; 6(4):e454.
PMID: 32637633
Qin K, Zhao L, Gregory C, Solanki A, Mastrianni JA
“Dual Disease” TgAD/GSS mice exhibit enhanced Alzheimer’s disease pathology and reveal PrPC-dependent secretion of Aß. Sci Rep. 2019 06 12; 9(1):8524.
PMID: 31189938
Qin K, Zhao L, Solanki A, Busch C, Mastrianni J
Anle138b prevents PrP plaque accumulation in Tg(PrP-A116V) mice but does not mitigate clinical disease. J Gen Virol. 2019 06; 100(6):1027-1037.
PMID: 31045489
Impaired transmissibility of atypical prions from genetic CJDG114V.
Cali I, Mikhail F, Qin K, Gregory C, Solanki A, Martinez MC, Zhao L, Appleby B, Gambetti P, Norstrom E, Mastrianni JA
Impaired transmissibility of atypical prions from genetic CJDG114V. Neurol Genet. 2018 Aug; 4(4):e253.
PMID: 30109268
IVIG Delays Onset in a Mouse Model of Gerstmann-Sträussler-Scheinker Disease.
Gu H, Kirchhein Y, Zhu T, Zhao G, Peng H, Du E, Liu J, Mastrianni JA, Farlow MR, Dodel R, Du Y
IVIG Delays Onset in a Mouse Model of Gerstmann-Sträussler-Scheinker Disease. Mol Neurobiol. 2019 Apr; 56(4):2353-2361.
PMID: 30027340
Early Delivery of Misfolded PrP from ER to Lysosomes by Autophagy.
Cortes CJ, Qin K, Norstrom EM, Green WN, Bindokas VP, Mastrianni JA
Early Delivery of Misfolded PrP from ER to Lysosomes by Autophagy. Int J Cell Biol. 2013; 2013:560421.
PMID: 24454378
Solodkin A, Chen EE, Van Hoesen GW, Heimer L, Shereen A, Kruggel F, Mastrianni J
In vivo parahippocampal white matter pathology as a biomarker of disease progression to Alzheimer’s disease. J Comp Neurol. 2013 Dec 15; 521(18):4300-17.
PMID: 23839862
Systemic transthyretin amyloidosis in a patient with bent spine syndrome.
Rezania K, Pytel P, Smit LJ, Mastrianni J, Dina MA, Highsmith WE, Dogan A
Systemic transthyretin amyloidosis in a patient with bent spine syndrome. Amyloid. 2013 Jun; 20(2):131-4.
PMID: 23638719
Acute encephalopathy as the initial manifestation of CADASIL.
Fan Y, McGowan S, Rubeiz H, Wollmann R, Javed A, Mastrianni J
Acute encephalopathy as the initial manifestation of CADASIL. Neurol Clin Pract. 2012 Dec; 2(4):359-361.
PMID: 23634379
Cortes CJ, Qin K, Cook J, Solanki A, Mastrianni JA
Rapamycin delays disease onset and prevents PrP plaque deposition in a mouse model of Gerstmann-Sträussler-Scheinker disease. J Neurosci. 2012 Sep 05; 32(36):12396-405.
PMID: 22956830
Tunicamycin produces TDP-43 cytoplasmic inclusions in cultured brain organotypic slices.
Leggett C, McGehee DS, Mastrianni J, Yang W, Bai T, Brorson JR
Tunicamycin produces TDP-43 cytoplasmic inclusions in cultured brain organotypic slices. J Neurol Sci. 2012 Jun 15; 317(1-2):66-73.
PMID: 22459357
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.
Jayadev S, Nochlin D, Poorkaj P, Steinbart EJ, Mastrianni JA, Montine TJ, Ghetti B, Schellenberg GD, Bird TD, Leverenz JB
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. Ann Neurol. 2011 Apr; 69(4):712-20.
PMID: 21416485
Generation of a new form of human PrP(Sc) in vitro by interspecies transmission from cervid prions.
Barria MA, Telling GC, Gambetti P, Mastrianni JA, Soto C
Generation of a new form of human PrP(Sc) in vitro by interspecies transmission from cervid prions. J Biol Chem. 2011 Mar 04; 286(9):7490-5.
PMID: 21209079
Brown K, Mastrianni JA
The prion diseases. J Geriatr Psychiatry Neurol. 2010 Dec; 23(4):277-98.
PMID: 20938044
Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.
Zou WQ, Puoti G, Xiao X, Yuan J, Qing L, Cali I, Shimoji M, Langeveld JP, Castellani R, Notari S, Crain B, Schmidt RE, Geschwind M, Dearmond SJ, Cairns NJ, Dickson D, Honig L, Torres JM, Mastrianni J, Capellari S, Giaccone G, Belay ED, Schonberger LB, Cohen M, Perry G, Kong Q, Parchi P, Tagliavini F, Gambetti P
Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein. Ann Neurol. 2010 Aug; 68(2):162-72.
PMID: 20695009
Mallik S, Yang W, Norstrom EM, Mastrianni JA
Live cell fluorescence resonance energy transfer predicts an altered molecular association of heterologous PrPSc with PrPC. J Biol Chem. 2010 Mar 19; 285(12):8967-75.
PMID: 20086009
Yang W, Cook J, Rassbach B, Lemus A, DeArmond SJ, Mastrianni JAA New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP. J Neurosci. 2009 Aug 12; 29(32):10072-80.PMID: 19675240
Identifying key components of the PrPC-PrPSc replicative interface.
Abalos GC, Cruite JT, Bellon A, Hemmers S, Akagi J, Mastrianni JA, Williamson RA, Solforosi LIdentifying key components of the PrPC-PrPSc replicative interface. J Biol Chem. 2008 Dec 05; 283(49):34021-8.PMID: 18826953
A novel human disease with abnormal prion protein sensitive to protease.
Gambetti P, Dong Z, Yuan J, Xiao X, Zheng M, Alshekhlee A, Castellani R, Cohen M, Barria MA, Gonzalez-Romero D, Belay ED, Schonberger LB, Marder K, Harris C, Burke JR, Montine T, Wisniewski T, Dickson DW, Soto C, Hulette CM, Mastrianni JA, Kong Q, Zou WQA novel human disease with abnormal prion protein sensitive to protease. Ann Neurol. 2008 Jun; 63(6):697-708.PMID: 18571782
Norstrom EM, Ciaccio MF, Rassbach B, Wollmann R, Mastrianni JACytosolic prion protein toxicity is independent of cellular prion protein expression and prion propagation. J Virol. 2007 Mar; 81(6):2831-7.PMID: 17182694
The charge structure of helix 1 in the prion protein regulates conversion to pathogenic PrPSc.
Norstrom EM, Mastrianni JAThe charge structure of helix 1 in the prion protein regulates conversion to pathogenic PrPSc. J Virol. 2006 Sep; 80(17):8521-9.PMID: 16912302
Production of TH1 and TH2 cell lines and clones.
Fitch FW, Gajewski TF, Hu-Li JProduction of TH1 and TH2 cell lines and clones. Curr Protoc Immunol. 2006 May; Chapter 3:Unit 3.13.PMID: 11756597
Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia.
Li X, Rowland LP, Mitsumoto H, Przedborski S, Bird TD, Schellenberg GD, Peskind E, Johnson N, Siddique T, Mesulam MM, Weintraub S, Mastrianni JAPrion protein codon 129 genotype prevalence is altered in primary progressive aphasia. Ann Neurol. 2005 Dec; 58(6):858-64.PMID: 16315279
Norstrom EM, Mastrianni JAThe AGAAAAGA palindrome in PrP is required to generate a productive PrPSc-PrPC complex that leads to prion propagation. J Biol Chem. 2005 Jul 22; 280(29):27236-43.PMID: 15917252
Wrinkles and folds of the prion protein.
Mastrianni JA, Roos RPWrinkles and folds of the prion protein. Neurology. 2003 Nov 11; 61(9):1168-9.PMID: 14610113
Korth C, Kaneko K, Groth D, Heye N, Telling G, Mastrianni J, Parchi P, Gambetti P, Will R, Ironside J, Heinrich C, Tremblay P, DeArmond SJ, Prusiner SB
Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgene. Proc Natl Acad Sci U S A. 2003 Apr 15; 100(8):4784-9.
PMID: 12684540
“Out, damned spot! out, I say!…”: issues related to prion decontamination.
Mastrianni J, Roos RP”Out, damned spot! out, I say!…”: issues related to prion decontamination. Neurology. 2002 Aug 27; 59(4):488-9.PMID: 12196639
Inherited prion disease caused by the V210I mutation: transmission to transgenic mice.
Mastrianni JA, Capellari S, Telling GC, Han D, Bosque P, Prusiner SB, DeArmond SJInherited prion disease caused by the V210I mutation: transmission to transgenic mice. Neurology. 2001 Dec 26; 57(12):2198-205.PMID: 11756597
Mastrianni JA, Roos RPThe prion diseases. Semin Neurol. 2000; 20(3):337-52.PMID: 11051298
Worrall BB, Rowland LP, Chin SS, Mastrianni JAAmyotrophy in prion diseases. Arch Neurol. 2000 Jan; 57(1):33-8.PMID: 10634430
Poduslo SE, Yin X, Hargis J, Brumback RA, Mastrianni JA, Schwankhaus JA familial case of Alzheimer’s disease without tau pathology may be linked with chromosome 3 markers. Hum Genet. 1999 Jul-Aug; 105(1-2):32-7.PMID: 10480352
Prion protein conformation in a patient with sporadic fatal insomnia.
Mastrianni JA, Nixon R, Layzer R, Telling GC, Han D, DeArmond SJ, Prusiner SBPrion protein conformation in a patient with sporadic fatal insomnia. N Engl J Med. 1999 May 27; 340(21):1630-8.PMID: 10341275
Creutzfeldt-Jakob disease (CJD) after blood product transfusion from a donor with CJD.
Patry D, Curry B, Easton D, Mastrianni JA, Hogan DBCreutzfeldt-Jakob disease (CJD) after blood product transfusion from a donor with CJD. Neurology. 1998 Jun; 50(6):1872-3.PMID: 9633747
A transmembrane form of the prion protein in neurodegenerative disease.
Hegde RS, Mastrianni JA, Scott MR, DeFea KA, Tremblay P, Torchia M, DeArmond SJ, Prusiner SB, Lingappa VRA transmembrane form of the prion protein in neurodegenerative disease. Science. 1998 Feb 06; 279(5352):827-34.PMID: 9452375
The prion diseases: Creutzfeldt-Jakob, Gerstmann-Sträussler-Scheinker, and related disorders.
Mastrianni JAThe prion diseases: Creutzfeldt-Jakob, Gerstmann-Sträussler-Scheinker, and related disorders. J Geriatr Psychiatry Neurol. 1998; 11(2):78-97.PMID: 9877529
Schuff N, Amend D, Ezekiel F, Steinman SK, Tanabe J, Norman D, Jagust W, Kramer JH, Mastrianni JA, Fein G, Weiner MW
Changes of hippocampal N-acetyl aspartate and volume in Alzheimer’s disease. A proton MR spectroscopic imaging and MRI study. Neurology. 1997 Dec; 49(6):1513-21.
PMID: 9409338
MacGowan DJ, Delanty N, Petito F, Edgar M, Mastrianni J, DeArmond SJIsolated myoclonic alien hand as the sole presentation of pathologically established Creutzfeldt-Jakob disease: a report of two patients. J Neurol Neurosurg Psychiatry. 1997 Sep; 63(3):404-7.PMID: 9328266
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
Mastrianni JA, Iannicola C, Myers RM, DeArmond S, Prusiner SBMutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. Neurology. 1996 Nov; 47(5):1305-12.PMID: 8909447
Prion disease (PrP-A117V) presenting with ataxia instead of dementia.
Mastrianni JA, Curtis MT, Oberholtzer JC, Da Costa MM, DeArmond S, Prusiner SB, Garbern JYPrion disease (PrP-A117V) presenting with ataxia instead of dementia. Neurology. 1995 Nov; 45(11):2042-50.PMID: 7501157
Telling GC, Scott M, Mastrianni J, Gabizon R, Torchia M, Cohen FE, DeArmond SJ, Prusiner SBPrion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein. Cell. 1995 Oct 06; 83(1):79-90.PMID: 7553876
Spudich S, Mastrianni JA, Wrensch M, Gabizon R, Meiner Z, Kahana I, Rosenmann H, Kahana E, Prusiner SBComplete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene. Mol Med. 1995 Sep; 1(6):607-13.PMID: 8529127
Isolated fascicular abducens nerve palsy and Lyme disease.
Mastrianni JA, Galetta SL, Raps EC, Liu GT, Volpe NJIsolated fascicular abducens nerve palsy and Lyme disease. J Neuroophthalmol. 1994 Mar; 14(1):2-5.PMID: 8032474
Activation of central mu-opioid receptors is involved in clonidine analgesia in rats.
Mastrianni JA, Abbott FV, Kunos GActivation of central mu-opioid receptors is involved in clonidine analgesia in rats. Brain Res. 1989 Feb 13; 479(2):283-9.PMID: 2538210
Mastrianni JA, Palkovits M, Kunos GActivation of brainstem endorphinergic neurons causes cardiovascular depression and facilitates baroreflex bradycardia. Neuroscience. 1989; 33(3):559-66.PMID: 2636709
Endorphinergic mechanism in the central cardiovascular and analgesic effects of clonidine.
Kunos G, Mosqueda-Garcia R, Mastrianni JA, Abbott FVEndorphinergic mechanism in the central cardiovascular and analgesic effects of clonidine. Can J Physiol Pharmacol. 1987 Aug; 65(8):1624-32.PMID: 3690393
Mastrianni JA, Ingenito AJ
On the relationship between clonidine hypotension and brain beta-endorphin in the spontaneously hypertensive rat: studies with alpha adrenergic and opiate blockers. J Pharmacol Exp Ther. 1987 Jul; 242(1):378-87.
PMID: 3039113
Mastrianni JA, Harris TM, Ingenito AJAn intracerebroventricular perfusion system developed for the study of centrally acting antihypertensive drugs in the rat. J Pharmacol Methods. 1986 Aug; 16(1):63-72.PMID: 3747547
Acute tolerance to clonidine hypotension and bradycardia in normotensive and hypertensive rats.
Mastrianni JA, Ingenito AJAcute tolerance to clonidine hypotension and bradycardia in normotensive and hypertensive rats. Pharmacol Res Commun. 1985 Sep; 17(9):865-72.PMID: 4059320
Garris DR, Smith-West C, Mastrianni JA
A cryostat-freeze drying technique for enhanced visualization of catecholamine/indoleamine-containing neurons. Neurosci Lett. 1983 Aug 29; 39(2):113-8.
PMID: 6355908