Search | VHL CLAP/WR-PAHO/WHO

1.

A single-cell map of antisense oligonucleotide activity in the brain.

Mortberg, Meredith A; Gentile, Juliana E; Nadaf, Naeem M; Vanderburg, Charles; Simmons, Sean; Dubinsky, Dan; Slamin, Adam; Maldonado, Salome; Petersen, Caroline L; Jones, Nichole; Kordasiewicz, Holly B; Zhao, Hien T; Vallabh, Sonia M; Minikel, Eric Vallabh.

Nucleic Acids Res ; 51(14): 7109-7124, 2023 08 11.

Article in English | MEDLINE | ID: mdl-37188501

2.

Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease.

Vallabh, Sonia M; Zou, Dan; Pitstick, Rose; O'Moore, Jill; Peters, Janet; Silvius, Derek; Kriz, Jasna; Jackson, Walker S; Carlson, George A; Minikel, Eric Vallabh; Cabin, Deborah E.

J Virol ; 97(2): e0167222, 2023 02 28.

Article in English | MEDLINE | ID: mdl-36651748

3.

Analysis of non-human primate models for evaluating prion disease therapeutic efficacy.

Mortberg, Meredith A; Minikel, Eric Vallabh; Vallabh, Sonia M.

PLoS Pathog ; 18(8): e1010728, 2022 08.

Article in English | MEDLINE | ID: mdl-35994510

4.

Genetic counseling for prion disease: Updates and best practices.

Goldman, Jill S; Vallabh, Sonia M.

Genet Med ; 24(10): 1993-2003, 2022 10.

Article in English | MEDLINE | ID: mdl-35819418

5.

Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints.

Minikel, Eric Vallabh; Zhao, Hien T; Le, Jason; O'Moore, Jill; Pitstick, Rose; Graffam, Samantha; Carlson, George A; Kavanaugh, Michael P; Kriz, Jasna; Kim, Jae Beom; Ma, Jiyan; Wille, Holger; Aiken, Judd; McKenzie, Deborah; Doh-Ura, Katsumi; Beck, Matthew; O'Keefe, Rhonda; Stathopoulos, Jacquelyn; Caron, Tyler; Schreiber, Stuart L; Carroll, Jeffrey B; Kordasiewicz, Holly B; Cabin, Deborah E; Vallabh, Sonia M.

Nucleic Acids Res ; 48(19): 10615-10631, 2020 11 04.

Article in English | MEDLINE | ID: mdl-32776089

6.

Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.

Vallabh, Sonia M; Nobuhara, Chloe K; Llorens, Franc; Zerr, Inga; Parchi, Piero; Capellari, Sabina; Kuhn, Eric; Klickstein, Jacob; Safar, Jiri G; Nery, Flavia C; Swoboda, Kathryn J; Geschwind, Michael D; Zetterberg, Henrik; Arnold, Steven E; Minikel, Eric Vallabh; Schreiber, Stuart L.

Proc Natl Acad Sci U S A ; 116(16): 7793-7798, 2019 04 16.

Article in English | MEDLINE | ID: mdl-30936307

7.

Multimodal small-molecule screening for human prion protein binders.

Reidenbach, Andrew G; Mesleh, Michael F; Casalena, Dominick; Vallabh, Sonia M; Dahlin, Jayme L; Leed, Alison J; Chan, Alix I; Usanov, Dmitry L; Yehl, Jenna B; Lemke, Christopher T; Campbell, Arthur J; Shah, Rishi N; Shrestha, Om K; Sacher, Joshua R; Rangel, Victor L; Moroco, Jamie A; Sathappa, Murugappan; Nonato, Maria Cristina; Nguyen, Kong T; Wright, S Kirk; Liu, David R; Wagner, Florence F; Kaushik, Virendar K; Auld, Douglas S; Schreiber, Stuart L; Minikel, Eric Vallabh.

J Biol Chem ; 295(39): 13516-13531, 2020 09 25.

Article in English | MEDLINE | ID: mdl-32723867

8.

Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry.

Minikel, Eric Vallabh; Kuhn, Eric; Cocco, Alexandra R; Vallabh, Sonia M; Hartigan, Christina R; Reidenbach, Andrew G; Safar, Jiri G; Raymond, Gregory J; McCarthy, Michael D; O'Keefe, Rhonda; Llorens, Franc; Zerr, Inga; Capellari, Sabina; Parchi, Piero; Schreiber, Stuart L; Carr, Steven A.

Mol Cell Proteomics ; 18(12): 2388-2400, 2019 12.

Article in English | MEDLINE | ID: mdl-31558565

9.

Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease.

Vallabh, Sonia M; Minikel, Eric Vallabh; Williams, Victoria J; Carlyle, Becky C; McManus, Alison J; Wennick, Chase D; Bolling, Anna; Trombetta, Bianca A; Urick, David; Nobuhara, Chloe K; Gerber, Jessica; Duddy, Holly; Lachmann, Ingolf; Stehmann, Christiane; Collins, Steven J; Blennow, Kaj; Zetterberg, Henrik; Arnold, Steven E.

BMC Med ; 18(1): 140, 2020 06 18.

Article in English | MEDLINE | ID: mdl-32552681

10.

Where have prions been all our lives?

Vallabh, Eric Minikel; Vallabh, Sonia M.

Brain ; 146(6): 2206-2207, 2023 06 01.

Article in English | MEDLINE | ID: mdl-37161596

11.

The Patient-Scientist's Mandate.

Vallabh, Sonia M.

N Engl J Med ; 382(2): 107-109, 2020 Jan 09.

Article in English | MEDLINE | ID: mdl-31914240

12.

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.

Biagioli, Marta; Ferrari, Francesco; Mendenhall, Eric M; Zhang, Yijing; Erdin, Serkan; Vijayvargia, Ravi; Vallabh, Sonia M; Solomos, Nicole; Manavalan, Poornima; Ragavendran, Ashok; Ozsolak, Fatih; Lee, Jong Min; Talkowski, Michael E; Gusella, James F; Macdonald, Marcy E; Park, Peter J; Seong, Ihn Sik.

Hum Mol Genet ; 24(9): 2442-57, 2015 May 01.

Article in English | MEDLINE | ID: mdl-25574027

13.

Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker.

Gentile, Juliana E; Heiss, Christina; Corridon, Taylor L; Mortberg, Meredith A; Fruhwürth, Stefanie; Guzman, Kenia; Grötschel, Lana; Chan, Kwan; Herring, Neil C; Janicki, Timothy; Nhass, Rajaa; Sarathy, Janani Manavala; Erickson, Brian; Kunz, Ryan; Erickson, Alison; Braun, Craig; Henry, Katherine T; Bry, Lynn; Arnold, Steven E; Minikel, Eric Vallabh; Zetterberg, Henrik; Vallabh, Sonia M.

medRxiv ; 2024 May 02.

Article in English | MEDLINE | ID: mdl-38746398

14.

Modulation of prion protein expression through cryptic splice site manipulation.

Gentile, Juliana E; Corridon, Taylor L; Mortberg, Meredith A; D'Souza, Elston Neil; Whiffin, Nicola; Minikel, Eric Vallabh; Vallabh, Sonia M.

bioRxiv ; 2023 Dec 19.

Article in English | MEDLINE | ID: mdl-38187635

15.

A single-cell map of antisense oligonucleotide activity in the brain.

Mortberg, Meredith A; Gentile, Juliana E; Nadaf, Naeem; Vanderburg, Charles; Simmons, Sean; Dubinsky, Dan; Slamin, Adam; Maldonado, Salome; Petersen, Caroline L; Jones, Nichole; Kordasiewicz, Holly B; Zhao, Hien T; Vallabh, Sonia M; Minikel, Eric Vallabh.

bioRxiv ; 2023 Feb 14.

Article in English | MEDLINE | ID: mdl-36824749

16.

Biomarker changes preceding symptom onset in genetic prion disease.

Vallabh, Sonia M; Mortberg, Meredith A; Allen, Shona W; Kupferschmid, Ashley C; Kivisäkk, Pia; Hammerschlag, Bruno L; Bolling, Anna; Trombetta, Bianca A; Devitte-McKee, Kelli; Ford, Abaigeal M; Sather, Lauren; Duffy, Griffin; Rivera, Ashley; Gerber, Jessica; McManus, Alison J; Minikel, Eric Vallabh; Arnold, Steven E.

medRxiv ; 2023 Dec 18.

Article in English | MEDLINE | ID: mdl-38196583

17.

Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials.

Mortberg, Meredith A; Vallabh, Sonia M; Minikel, Eric Vallabh.

Sci Rep ; 12(1): 17708, 2022 10 21.

Article in English | MEDLINE | ID: mdl-36271285

18.

Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS.

Mortberg, Meredith A; Zhao, Hien T; Reidenbach, Andrew G; Gentile, Juliana E; Kuhn, Eric; O'Moore, Jill; Dooley, Patrick M; Connors, Theresa R; Mazur, Curt; Allen, Shona W; Trombetta, Bianca A; McManus, Alison; Moore, Matthew R; Liu, Jiewu; Cabin, Deborah E; Kordasiewicz, Holly B; Mathews, Joel; Arnold, Steven E; Vallabh, Sonia M; Minikel, Eric Vallabh.

JCI Insight ; 7(6)2022 03 22.

Article in English | MEDLINE | ID: mdl-35133987

19.

Novel quaternary structures of the human prion protein globular domain.

Bortot, Leandro Oliveira; Rangel, Victor Lopes; Pavlovici, Francesca A; El Omari, Kamel; Wagner, Armin; Brandao-Neto, Jose; Talon, Romain; von Delft, Frank; Reidenbach, Andrew G; Vallabh, Sonia M; Minikel, Eric Vallabh; Schreiber, Stuart; Nonato, Maria Cristina.

Biochimie ; 191: 118-125, 2021 Dec.

Article in English | MEDLINE | ID: mdl-34517052

20.

Towards a treatment for genetic prion disease: trials and biomarkers.

Vallabh, Sonia M; Minikel, Eric Vallabh; Schreiber, Stuart L; Lander, Eric S.

Lancet Neurol ; 19(4): 361-368, 2020 04.

Article in English | MEDLINE | ID: mdl-32199098

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Latin-American Center for Perinatology, Woman and Reproductive Health

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A single-cell map of antisense oligonucleotide activity in the brain.

Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease.

Analysis of non-human primate models for evaluating prion disease therapeutic efficacy.

Genetic counseling for prion disease: Updates and best practices.

Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints.

Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.

Multimodal small-molecule screening for human prion protein binders.

Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry.

Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease.

Where have prions been all our lives?

The Patient-Scientist's Mandate.

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.

Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker.

Modulation of prion protein expression through cryptic splice site manipulation.

A single-cell map of antisense oligonucleotide activity in the brain.

Biomarker changes preceding symptom onset in genetic prion disease.

Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials.

Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS.

Novel quaternary structures of the human prion protein globular domain.

Towards a treatment for genetic prion disease: trials and biomarkers.