Schuele Lab Publications

Published articles by the Schuele Lab staff are listed below.  Click on the link to review the Pubmed abstract or free full article where available. 


RECENT PUBLICATIONS


Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants.
Alcalay RN., Aasly J., Berg D., Bressman S., Brice A., Brockmann K., Chan P., Clark L., Cormier F., Corvol JC., Durr A., Facheris M., Farrer M., Foroud TM., Gasser T., Giladi N., Halter C., Lang A., Langston JW., Marras C., Marti-Masso JF., Ruiz Martinez J., Mejia-Santana H., Mirelman A., Pont-Sunyer C., Orr-Urtreger A., Raymond D., Saunders-Pullman R., Schüle, B., Tanner C., Tolosa E., Urkowitz A., Vilas D., Wise A., Marder K.
Genet Med. 2014 Aug;16(8):644-5

Systems-based analyses of brain regions functionally impacted in Parkinson's disease reveals underlying causal mechanisms.
Riley BE., Gardai SJ., Emig-Agius D., Bessarabova M., Ivliev AE., Schüle B., Alexander J., Wallace W., Halliday GM., Langston JW., Braxton S., Yednock T., Shaler T., Johnston JA.
PLoS One. 2014 Aug 29;9(8):e102909

Higher vulnerability and stress sensitivity of neuronal precursor cells carrying an alpha-synuclein gene triplication.>
Flierl A, Oliveira LMA, Falomir‑Lockhart LJ, Mak SK, Hesley J, Soldner F, Arndt-Jovin DJ, Jaenisch R, Langston JW, Thomas M. Jovin TM, Schüle B.
PLoS ONE 9(11): e112413. doi:10.1371/journal.pone.0112413
http://www.ncbi.nlm.nih.gov/pubmed/25390032

Clinical Correlations With Lewy Body Pathology in LRRK2-related Parkinson Disease.>
Kalia LV, Lang AE, Hazrati L-N, Fujioka S, Wszolek ZK, Dickson, DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig H, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, Ruiz-Martínez J, Marti-Masso JF, Ferrer I, López de Munain A, Goldman SM, Schüle B, Langston JW, Aasly JOGiordana MT, Bonifati V, Puschmann A, Canesi M, Pezzoli G, MauesDePaula A, Hasegawa K, Duyckaerts C, Brice A, Stoessl AJ, Marras C.
JAMA Neurol. doi:10.1001/jamaneurol.2014.2704

Discovery of functional non-coding conserved regions in the α-synuclein gene locus. .
Sterling L, Ting D, Walter M, Schüle B.
F1000 Research 12/2014; 3(259)

DICE, An Efficient System for Iterative Genomic Editing in Human Pluripotent Stem Cells
Zhu, F; Gamboa, M; Farruggio, AP; Hippenmeyer, S; Tasic, B; Schüle, B; Chen-Tsai, Y; Calos, MP.
Nucleic Acid Research; 2013 Dec 4. 
http://www.ncbi.nlm.nih.gov/pubmed/24304893 

Identification and Rescue of α-Synuclein Toxicity in Parkinson Patient-derived Neurons
Chung, CY, Khurana, V, Auluck, PK, Tardiff, DF, Mazzulli, JR, Soldner, F, Baru, V, Lou, Y, Lo, KH, Sahni, N, Yi, S, Freyzon, Y, Cho, S, Mungenast, AE, Muffat, J, Mitalipova, M, Pluth, MD, Jui, NT, Schüle, B., Lippard, SJ, Tsai, LH, Krainc, D, Buchwald, SL, Ting, AY, Jaenisch, R, Lindquist, S.
Science, 24 October 2013 / 10.1126/science.1245296. 
http://www.ncbi.nlm.nih.gov/pubmed/24158904

Gene correction of LRRK2 G2019S mutation reverses mitochondrial DNA damage in iPSC-derived neural cells from Parkinson’s disease patients.
Sanders, L.H., Laganiere, J., Cooper, O., Mak, S.K., Vu, B.J., Huang, A.Y., Paschon, D.E., Vangipuram, M., Sundararajan, R., Urnov F.D., Langston, J.W., Gregory, P.D., Zhang, H.S., Greenamyre, J.T., Isacson, O., Schüle, B.
Neurobiology of Disease, 2014, 62, p.381-6
http://www.ncbi.nlm.nih.gov/pubmed/24148854

Elevated Alpha-Synuclein Impairs Innate Immune Cell Function and Provides a Potential Peripheral Biomarker for Parkinson's Disease.
Gardai, S.J., Mao, W., Schüle, B., Babcock, M., Schoebel, S., Lorenzana, C.,  Alexander, J. Glick, H., Hilton, K., Fitzgerald, J.K., Buttini, M., Chiou, S.-S., McConlogue, L., Anderson, J.P., Schenk, D.B., Bard, F., Langston, J.W., Yednock, T., Johnston J.A.
PLoS ONE. 2013; 8(8): e71634. doi:10.1371/journal.pone.0071634. 
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751933/ 

Skin Punch Biopsy Explant Culture for Derivation of Primary Human Fibroblasts.
Vangipuram M, Ting D, Kim S, Diaz R, Schüle B.
J Vis Exp. 2013 Jul 7;(77). doi: 10.3791/3779. 
http://www.ncbi.nlm.nih.gov/pubmed/23852182

Small Molecules Greatly Improve Conversion of Human-induced Pluripotent Stem Cells to the Neuronal Lineage.
Mak SK, Huang YA, Iranmanesh S, Vangipuram M, Sundararajan R, Nguyen L, Langston JW, Schüle B.
Stem Cells Int. 2012;2012:140427. doi: 10.1155/2012/140427. Epub 2012 Apr 10. 
http://www.ncbi.nlm.nih.gov/pubmed/22567022

SNCA Triplication Parkinson's Patient's iPSC-derived DA Neurons Accumulate α-Synuclein and Are Susceptible to Oxidative Stress.
Byers B, Cord B, Nguyen HN, Schüle B, Fenno L, Lee PC, Deisseroth K, Langston JW, Pera RR, Palmer TD.
PLoS One. 2011;6(11):e26159. doi: 10.1371/journal.pone.0026159. Epub 2011 Nov 16. 
http://www.ncbi.nlm.nih.gov/pubmed/22110584

Mitochondrial Dysfunction in Skin Fibroblasts from a Parkinson's Disease Patient with an alpha-Synuclein Triplication.
Mak SK, Tewari D, Tetrud JW, Langston JW, Schüle B.
Journal of Parkinson's Disease 1. (2011):175-183. doi: 10.3233/JPD-2011-11025. Epub 2011 Oct 04. 
http://iospress.metapress.com/content/kj417684763h0523/

Call for participation in the neurogenetics consortium within the Human Variome Project.
Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, Robinson PN, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ.
Neurogenetics. 2011 Aug;12(3):169-73. doi: 10.1007/s10048-011-0287-4. Epub 2011 Jun 1. 
http://www.ncbi.nlm.nih.gov/pubmed/21630033

Phenotype in Parkinsonian and Nonparkinsonian LRRK2 G2019S Mutation Carriers.
Marras C, Schüle B, Munhoz RP, Rogaeva E, Langston JW, Kasten M, Meaney C, Klein C, Wadia PM, Lim SY, Chuang RS, Zadikof C, Steeves T, Prakash KM, de Bie RM, Adeli G, Thomsen T, Johansen KK, Teive HA, Asante A, Reginold W, Lang AE.
Neurology. 2011 Jul 26;77(4):325-33. doi: 10.1212/WNL.0b013e318227042d. Epub 2011 Jul 13. 
http://www.ncbi.nlm.nih.gov/pubmed/21753163

LRRK2 Mutant iPSC-Derived DA Neurons Demonstrate Increased Susceptibility to Oxidative Stress.
Nguyen HN, Byers B, Cord B, Shcheglovitov A, Byrne J, Gujar P, Kee K, Schüle B, Dolmetsch RE, Langston W, Palmer TD, Pera RR. 
Cell Stem Cell. 2011 Mar 4;8(3):267-80. PMID: 21362567 [PubMed - in process] 
http://www.ncbi.nlm.nih.gov/pubmed/21362567

Can Cellular Models Revolutionize Drug Discovery in Parkinson's Disease?
Schüle B, Pera RA, Langston JW.
Biochim Biophys Acta. 2009 Nov;1792(11):1043-51. Epub 2009 Sep 3. Review. PMID: 19733239 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/19733239

Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism.
Manning-Boğ AB, Schüle B, Langston JW.
Neurotoxicology. 2009 Nov;30(6):1127-32. Epub 2009 Jul 2. PMID: 19576930 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/19576930

Parkin gene variations and parkinsonism: association does not imply causation.
Langston JW, Tanner CM, Schüle B.
Ann Neurol. 2007 Jan;61(1):4-6. No abstract available. PMID: 17262853 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/17262853

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.
Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schüle B, Langston JW, Middleton FA, Ross OA, Hulihan M, Gasser T, Farrer MJ.
Neurology. 2007 Mar 20;68(12):916-22. Epub 2007 Jan 24. PMID: 17251522 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/17251522

Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.
Doostzadeh J, Tetrud JW, Allen-Auerbach M, Langston JW, Schüle B.
Mov Disord. Parkinsonism Relat Disord. 2007 Aug;13(6):359-61. Epub 2006 Oct 19. PMID: 17055324 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/17055324


Recent Invited Talks and Poster Presentatons   


Abstract submitted to American Academy of Neurology, April 26-May 3, 2014, Philadelphia, PA, USA
“Heart Rate Variability in LRRK2 Parkinson’s Disease”
S. Goldman, B. Schuele, G. Bhudhikanok, S. Cash, M. Korell, Y. Amiri, C. Meng, K. Comyns, D. Guest, L. Rees, S. Kim, F. Kausar, S. Sundarrajan, E. Drabant, G. Liang, M. Brandabur, J. Tetrud, JW Langston, C. Tanner  

Abstracts accepted: Parkinson’s Disease: Genetics, Mechanisms and Therapeutics (Q7), March 2-7, 2014 Keystone Resort, Keystone, CO, USA.

  1. “Genetic Variants in Mitochondrial Complex I Genes are Associated with Parkinson’s Disease”  
    P. S. Eis, E. Hatchwell, J. W. Langston, and B.Schuele
  2. “Genome editing of alpha-synuclein in induced pluripotent stem cells from a patient with multiple system atrophy”
    B. Schuele, S. Hermanson, J. Bian, D. Thompson, A. Flierl, J.W. Langston, K. Vogel, and K. Bi
  3. B. Schuele: Invited talk in plenary session “Mitochondrial dysfunction in LRRK2 mutation carrier cells”

Invited talk to National Parkinson Foundation Centers Leadership Conference, January 16-18, 2014, Miami, FL, USA
“Promise and limitations of stem cell models”

Poster at Society for Neuroscience 2013 Nov 9-13, 2013, San Diego, CA, USA
“Efficient generation and characterization of neural stem cells (NSC) derived from Parkinson’s disease (PD) patient sample iPSC lines using a novel neural induction method”
Bonnie J. Hanson, Marian S. Piekarczyk, Tori Sampsell-Barron, Kun Bi, Y. Anne Huang, Malini Vangipuram, Jessica Westfall, Spencer Hermanson, Connie Lebakken, Laurie J. Reichling, David R. Piper, Mohan Vemuri, Yiping Yan, J. William Langston, Kurt Vogel, Birgitt Schuele 

Innovation talk at International Society for Stem Cell Research (ISSCR) meeting, Boston, June 15, 2013, Boston, MA, USA
“Creating integration-free iPSCs and NSCs to model Parkinson’s disease”

Poster at International Society for Stem Cell Research (ISSCR) meeting, Boston, June 12-16, 2013, Boston, MA, USA
“Genome editing of α- synuclein in iPSCs from a patient with multiple system atrophy”
David Thompson, Spencer Hermanson, Kurt Vogel, Birgitt Schuele, Kun Bi

Poster at International Society for Stem Cell Research (ISSCR) meeting, Boston, June 12-16, 2013, Boston, MA, USA
“LRRK2-dependent neuronal cell pathology in Parkinson’s disease revealed via isogenic induced pluripotent stem cells generated by high-efficiency targeted genome editing”
Kun Bi, Spencer Hermanson, Connie Lebekken, Marian Piekarczyk, Tori Barron, Kurt Vogel, Birgitt Schuele

Poster at CIRM grantee meeting 2013, March 5-7, 2013, San Francisco, CA, USA
“Parkinson’s disease LRRK2 stem cells reveal an accumulation of somatic mutations predisposing to cancer risk”
Jessica Westfall, Tzvia Abramson, Birgitt Schuele

Poster at CIRM grantee meeting 2013, March 5-7, 2013, San Francisco, CA, USA
“Parkinson’s disease LRRK2 stem cells reveal an accumulation of somatic mutations predisposing to cancer risk”
Josée Laganière, Sally K. Mak, Adrian Flierl, B. Joseph Vu, Malini Vangipuram, Y. Anne Huang, Lauren K. Fong, David E. Paschon, Ramya Sundararajan, Jayne Hesley, Dmitry G. Guschin, Jeffrey C. Miller, Fyodor D. Urnov, J. William Langston, Philip D. Gregory, H. Steve Zhang,  Birgitt Schuele

Poster at American Society for Cell Biology 2012, Dec. 15-19, 2012, San Francisco, CA, USA
“Patient-derived Neural Progenitors: Setting the Stage for Neurodegeneration”
Adrian Flierl, Jayne Hesley, Sally K. Mak, J. William Langston, Birgitt Schuele

Poster at American Society for Human Genetics 2012, Nov 6-10, 2012, San Francisco, CA, USA
“High-efficiency gene correction of a Parkinson’s disease associated LRRK2 gene variant in patient-derived iPS cells”
B. Schuele, J. Laganiere, S.K. Mak, B.J. Vu, M. Vangipuram, Y.A. Huang, D.E. Paschon, O. Macaranas, A. Flierl, R. Sundararajan, P.D. Gregory, F.D. Urnov, J.W. Langston, H.S. Zhang

Invited Talk, Stem Cell Meeting on the Mesa, Oct. 29-31, 2012, La Jolla, CA, USA
“Induced pluripotent stem models as new experimental systems for Parkinson’s disease”

Poster at Society for Neuroscience 2012, New Orleans, Oct. 13-17, 2012, New Orleans, LA,  USA
“Novel functional phenotypes in induced pluripotent stem cell-derived neurons from patients with LRRK2 G2019S mutation”
Sally K Mak, Jayne Hesley, Xin Jiang, Yuanying A Huang, Malini Vangipuram, J William Langston, Birgitt Schuele

Poster at the International Society for Stem Cell Research 10th Annual Meeting 2012, June 13-16, 2012
“Modeling Parkinson’s disease in a petri dish: effect of alpha-synuclein on dopaminergic neurons derived from mouse iPSCs”
Leonardo Rodriguez, Gayatri Pal, Birgitt Schuele
http://cdn.f1000.com/posters/docs/250752390

Invited Talk, 1st North American Toxicology Summit,  May 21-23, 2012, Boston, MA, USA
“New human stem cell models for Parkinson’s disease as a venue for translational drug discovery”

Invited Talk, CIRM grants working group, April 6, 2012
“Perspective on implementation of CIRM consent requirements for iPSC derivation to model Parkinson’s in-a-dish”

Poster at Buck Symposium Stem Cell Research and Aging 2012, March 1-2, 2012, Novato, CA, USA
“Mitochondrial bioenergetics in stem cell models of neurodegeneration”
Adrian Flierl, Sally K Mak, J W Langston, Birgitt Schuele
http://cdn.f1000.com/posters/docs/250745769

Invited Talk, National Parkinson Foundation, Center Leadership Conference Oct 28, 2011, Chicago, IL, USA
“New Directions in Stem Cells: PD in a petri-dish”

Poster at Society for Advancement of Chicanos and Native Americans in Science (SACNAS) National Conference 2011, Oct 26-29, 2011, San Jose, CA, USA
“Modeling Parkinson’s disease in a petri dish: dopaminergic neurons derived from stem cells challenged with Lewy body protein alpha-synuclein”
Leonardo Rodriguez, Gayatri Pal, Julio Soto, Birgitt Schuele
http://cdn.f1000.com/posters/docs/118180408

Poster at Society for Neuroscience 2011, Nov 12-16, 2011, Washington, DC, USA
“High efficiency of neural induction in Parkinson’s disease-specific induced pluripotent stem cells”
Sally Mak, Anne Huang, Shifteh Iranmanesh, Malini Vangipuram, Ramya Sundararajan, Loan Nguyen, J William Langston, Birgitt Schuele
http://cdn.f1000.com/posters/docs/100198318

Poster at World Stem Cell Summit 2011, October 3-5, 2011, Pasadena, CA, USA
“PD in a petri-dish: Overcoming a major bottleneck in modeling Parkinson’s disease”
Malini Vangipuram, Anne Huang, Sally Mak, Prachi Gujar, Ha Nam Nguyen, Alex de la Cruz, Branden Cord, Adrian Flierl, Blake Byers, Ramya Sundararajan, James Byrne, Robert Diaz, Kehkooi Kee, Chhavy Tep-Cullison, Patrick Lee, Smruti Phandis, Loan Ngyuen, Sam Kim, Anne Chang, Theo Palmer, Bill Langston, Renee Reijo Pera, Birgitt Schuele
http://cdn.f1000.com/posters/docs/93401043


Outreach and Miscellaneous   


Dr. Birgitt Schuele, ISSCR 2013 -- Generating Parkinson's Disease in a dish, June 26, 2013
http://www.youtube.com/watch?v=pJiMCwQ1Ad4

Dr. Birgitt Schuele, Stem Cell Meeting on the Mesa 2012 -- Panel 2, Stem Cells in Development and Disease, October 31, 2012
http://thesciencenetwork.org/search?program=Stem+Cell+Meeting+on+the+Mesa+2012&speakers=Birgitt+Schuele

Dr. Birgitt Schuele, Stem Cell Awareness Day - Schuele Lab, October 4, 2012
http://www.thepi.org/news/2012/10/04/news-articles/stem-cell-awareness-day-schuele-lab/

Dr. Birgitt Schuele, CIRM Bridges students at Parkinson's Institute get job training, experience, March 14, 2012
http://cirmresearch.blogspot.com/2012/03/cirm-bridgs-students-at-parkinsons.html

Dr. Birgitt Schuele, Stem Cell Science Meets Public Health: Case Study, Parkinson's Disease, December 20, 2011
http://cirmresearch.blogspot.com/2011/12/stem-cell-science-meets-public-health.html

Dr. Birgitt Schuele, Stem Cells and Parkinson's Disease, May 7, 2011
http://www.stemcellcafe.com/tag/birgitt-schuele

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