Dr Marie Mangelsdorf

Research Fellow

School of Law
Faculty of Business, Economics and Law
m.mangelsdorf@uq.edu.au
+61 7 344 33122

Overview

Dr Marie Mangelsdorf is a Research Fellow and a team member of the interdisciplinary Genomics in Society project. The team are undertaking research relating to the ethical, legal, social and/or public policy aspects of public health genomics to benefit its translation into the clinical setting and across society. By investigating these dimensions of genomics, the interdisciplinary Genomics in Society project team will develop robust methodological tools, recommendations and educational strategies for informed decision-making.

Dr Mangelsdorf brings an extensive background in molecular biology research to the Genomics in Society project. She began her research career in the prestigious department headed by Professor Grant Sutherland, a past President of the Human Genome Organisation. Her early research aimed to understand the then newly discovered repeat expansion mutations, that are now known to be the cause of many neurological disorders such as Fragile-X Syndrome, Huntington Disease and Motor Neuron Disease. In 2003 she completed her PhD under the supervision of Professor Jozef Gècz, where her research discovered the gene responsible for a form of intellectual disability both with and without an epilepsy phenotype. Upon completing her PhD studies she embarked upon a Postdoctoral Fellowship at the Ottawa Health Research Institute in Canada. She began working with mouse models of human genetic disorders to understand how the mutations in genes in human patients with a form of intellectual disability would cause changes in brain development that would lead to the observed symptoms. Upon returning to Australia in 2007, Dr Mangelsdorf joined the Queensland Brain Institute where her research was largely focussed on the genetic causes of Motor Neurone Disease. In 2015 she became the Ross Maclean Senior Research Fellow and Group Leader of the Peter Goodenough and Wantoks Research Laboratory that was dedicated to the memory of Mr Peter Goodenough (1936–2004) who made a bequest for fundamental scientific research at The University of Queensland after his personal battle with Motor Neuron Disease. As part of an international consortium and working with neurologist from the Royal Brisbane and Women’s Hospital, exomes of more than 1000 Motor Neuron Disease patients were sequenced using next generation sequencing technology.

Dr Mangelsdorf was a member of The University of Queensland Animal Ethics Committee and worked briefly as a Senior Project Manager in the Research Management Office where she worked closely with the Animal Ethics Unit and the Executive Director of Research Ethics to ensure the ethical use of animals for scientific and teaching purposes at UQ. Her expertise in this area along with her research experience with animal models of human genetic disorders gained her membership on the Animal Welfare Advisory Board, providing advice to the Queensland Minister for Agriculture and Fisheries on animal welfare matters to improve the welfare of animals in Queensland.

Dr Mangelsdorf’s research has been published in high impact journals including Nature Genetics and Cell, and include two publications that were contained in the Faculty of 1000 significant articles.

Research Interests

  • Gene Discovery
    The team part of the Joint Sino-Australian Neurogenetics Lab aiming to identify new genetic causes of MND by using next generation sequencing in a large cohort of Chinese MND patients. Through the Australian Phenomics Facility we have access to hundreds of mice carrying thousands of random point mutations. We are screening these mice for loss of motor function to identify genes relevant to MND. Several new MND mouse models have been identified that require further characterisation.
  • Gene function
    TDP-43 is a protein that has been implicated in pathogenesis of MND both by cytoplasmic inclusions in motor neurons of MND patients, or by mutation in the TARDBP gene that encodes TDP-43. TDP-43 is an RNA binding protein and the team is working towards understanding how mutation in TDP-43 affects RNA processing including pre-mRNA splicing and RNA transport.

Qualifications

  • Bachelor Of Science (Honours), The University of Adelaide
  • Doctor of Philosophy, The University of Adelaide

Publications

  • Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P., Mowry, Bryan J., Ngo, Shyuan T., Pamphlett, Roger, Ran, Shu, Reutens, David C., Rowe, Dominic B., Sachdev, Perminder, Shah, Sonia, Song, Sharon, Tan, Li-Jun, Tang, Lu, van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Wallace, Robyn H., Wheeler, Lawrie, Williams, Kelly L., Wu, Jinyu, Wu, Xin, Yang, Jian, Yue, Weihua, Zhang, Zong-Hong, Zhang, Dai, Noakes, Peter G., Blair, Ian P., Henderson, Robert D., McCombe, Pamela A., Visscher, Peter M., Xu, Huji, Bartlett, Perry F., Brown, Matthew A., Wray, Naomi R. and Fan, Dongsheng (2017) Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nature Communications, 8 1: 611-611. doi:10.1038/s41467-017-00471-1

  • Garton, Fleur C., Benyamin, Beben, Zhao, Qiongyi, Liu, Zhijun, Gratten, Jacob, Henders, Anjali K., Zhang, Zong-Hong, Edson, Janette, Furlong, Sarah, Morgan, Sarah, Heggie, Susan, Thorpe, Kathryn, Pfluger, Casey, Mather, Karen A., Sachdev, Perminder S., McRae, Allan F., Robinson, Matthew R., Shah, Sonia, Visscher, Peter M., Mangelsdorf, Marie, Henderson, Robert D., Wray, Naomi R. and McCombe, Pamela A. (2017) Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. Molecular Genetics and Genomic Medicine, 5 4: 418-428. doi:10.1002/mgg3.302

  • Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark and Gecz, Jozef (2016) A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. European Journal of Human Genetics, 24 11: 1612-1616. doi:10.1038/ejhg.2016.46

View all Publications

Grants

View all Grants

Publications

Journal Article

  • Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P., Mowry, Bryan J., Ngo, Shyuan T., Pamphlett, Roger, Ran, Shu, Reutens, David C., Rowe, Dominic B., Sachdev, Perminder, Shah, Sonia, Song, Sharon, Tan, Li-Jun, Tang, Lu, van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Wallace, Robyn H., Wheeler, Lawrie, Williams, Kelly L., Wu, Jinyu, Wu, Xin, Yang, Jian, Yue, Weihua, Zhang, Zong-Hong, Zhang, Dai, Noakes, Peter G., Blair, Ian P., Henderson, Robert D., McCombe, Pamela A., Visscher, Peter M., Xu, Huji, Bartlett, Perry F., Brown, Matthew A., Wray, Naomi R. and Fan, Dongsheng (2017) Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nature Communications, 8 1: 611-611. doi:10.1038/s41467-017-00471-1

  • Garton, Fleur C., Benyamin, Beben, Zhao, Qiongyi, Liu, Zhijun, Gratten, Jacob, Henders, Anjali K., Zhang, Zong-Hong, Edson, Janette, Furlong, Sarah, Morgan, Sarah, Heggie, Susan, Thorpe, Kathryn, Pfluger, Casey, Mather, Karen A., Sachdev, Perminder S., McRae, Allan F., Robinson, Matthew R., Shah, Sonia, Visscher, Peter M., Mangelsdorf, Marie, Henderson, Robert D., Wray, Naomi R. and McCombe, Pamela A. (2017) Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. Molecular Genetics and Genomic Medicine, 5 4: 418-428. doi:10.1002/mgg3.302

  • Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark and Gecz, Jozef (2016) A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. European Journal of Human Genetics, 24 11: 1612-1616. doi:10.1038/ejhg.2016.46

  • Afawi, Zaid, Oliver, Karen L., Kivity, Sara, Mazarib, Aziz, Blatt, Ilan, Neufeld, Miriam, Helbig, Katherine L., Goldberg-Stern, Hadassa, Misk, Adel J., Straussberg, Rachel, Walid, Simri, Mahajnah, Muhammad, Lerman-Sagie, Tally, Ben-Zeev, Bruria, Kahana, Esther, Masalha, Rafik, Kramer, Uri, Ekstein, Dana, Shorer, Zamir, Wallace, Robyn H., Mangelsdorf, Marie, MacPherson, James N., Carvill, Gemma L., Mefford, Heather C., Jackson, Graeme D., Scheffer, Ingrid E., Bahlo, Melanie, Gecz, Jozef, Heron, Sarah E., Corbett, Mark, Mulley, John C., Dibbens, Leanne M., Korczyn, Amos D. and Berkovic, Samuel F. (2016) Multiplex families with epilepsy: success of clinical and molecular genetic characterization. Neurology, 86 8: 713-722. doi:10.1212/WNL.0000000000002404

  • Matusica, Dusan, Alfonsi, Fabienne, Turner, Bradley J., Butler, Tim J., Shepheard, Stephanie R., Rogers, Mary-Louise, Skeldal, Sune, Underwood, Clare K., Mangelsdorf, Marie and Coulson, Elizabeth J. (2016) Inhibition of motor neuron death in vitro and in vivo by a p75 neurotrophin receptor intracellular domain fragment. Journal of Cell Science, 129 3: 517-530. doi:10.1242/jcs.173864

  • He, Ji, Tang, Lu, Benyamin, Beben, Shah, Sonia, Hemani, Gib, Liu, Rong, Ye, Shan, Liu, Xiaolu, Ma, Yan, Zhang, Huagang, Cremin, Katie, Leo, Paul, Wray, Naomi R., Visscher, Peter M., Xu, Huji, Brown, Matthew A., Bartlett, Perry F., Mangelsdorf, Marie and Fan, Dongsheng (2015) C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 36 9: 2660.e1-2660.e8. doi:10.1016/j.neurobiolaging.2015.06.002

  • He, Ji, Mangelsdorf, Marie, Fan, Dongsheng, Bartlett, Perry and Brown, Matthew A. (2014) Amyotrophic lateral sclerosis genetic studies: from genome-wide association mapping to genome sequencing. The Neuroscientist, 1-17. doi:10.1177/1073858414555404

  • Zhou, HuaLin, Mangelsdorf, Marie, Liu, JiangHong, Zhu, Liu and Wu, Jane Y. (2014) RNA-binding proteins in neurological diseases. Science China Life Sciences, 57 4: 432-444. doi:10.1007/s11427-014-4647-9

  • Narayanan, Ramesh K., Mangelsdorf, Marie, Panwar, Ajay, Butler, Tim J., Noakes, Peter G. and Wallace, Robyn H. (2013) Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14 4: 252-260. doi:10.3109/21678421.2012.734520

  • Mangelsdorf, Marie, Chevrier, Evelyne, Mustonen, Aki and Picketts, David J. (2009) Börjeson-forssman-lehmann syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene. Journal of Child Neurology, 24 5: 610-614. doi:10.1177/0883073808327830

  • McKenzie, O., Ponte, I., Mangelsdorf, M., Finnis, M., Colasante, G., Shoubridge, C., Stifani, S., Gécz, J. and Broccoli, V. (2007) Aristaless-related Homeobox Gene, the Gene Responsible for West Syndromenext Term and Related Disorders, is a Groucho/transducin-like Enhancer of Split Dependent Transcriptional Repressor. Neuroscience, 146 1: 236-247. doi:10.1016/j.neuroscience.2007.01.038

  • Stepp, Monica L., Cason, A. Lauren, Finnis, Merran, Mangelsdorf, Marie, Holinski-Feder, Elke, Macgregor, David, MacMillan, Andrée, Holden, Jeanette J. A., Gecz, Jozef, Stevenson, Roger E. and Schwartz, Charles E. (2005) XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Medical Genetics, 6 16-1-16-4. doi:10.1186/1471-2350-6-16

  • Bérubé, Nathalie G., Mangelsdorf, Marie, Jagla, Magdalena, Vanderluit, Jackie, Garrick, David, Gibbons, Richard J., Higgs, Douglas R., Slack, Ruth S. and Picketts, David J. (2005) The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. Journal of Clinical Investigation, 115 2: 258-267. doi:10.1172/JCI200522329

  • Sarafidou, Theologia, Kahl, Christina, Martinez-Garay, Isabel, Marie Mangelsdorf,, Stefan Gesk,, Baker, Elizabeth, Kokkinaki, Maria, Talley, Polly, Maltby, Edna L., French, Lisa, Lana Harder,, Hinzmann, Bernd, Nobile, Carlo, Richkind, Kathy, Finnis, Merran, Deloukas, Panagiotis, Sutherland, Grant R., Kutsche, Kerstin, Moschonas, Nicholas K., Siebert, Reiner and Ge´cz, Jozef (2004) Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. Genomics, 84 1: 69-81. doi:10.1016/j.ygeno.2003.12.017

  • Tarpey, Patrick, Parnau, Josep, Blow, Matthew, Woffendin, Hayley, Bignell, Graham, Cox, Charles, Cox, James, Davies, Helen, Edkins, Sarah, Holden, Simon, Korny, Angelique, Mallya, Uma, Moon, Jenny, O’Meara, Sarah, Parker, Adrian, Stephens, Philip, Stevens, Claire, Teague, Jon, Donnelly, Andrew, Mangelsdorf, Marie, Mulley, John, Partington, Michael, Turner, Gillian, Stevenson, Roger, Schwartz, Charles, Young, Ian, Easton, Douglas, Bobrow, Martin, Futreal, P. Andrew, R. Stratton, Michael, Gecz, Jozef, Wooster, Richard and Raymond, F. Lucy (2004) Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics, 75 2: 318-324. doi:10.1086/422703

  • Turner, Gillian, Partington, Michael, Kerr, Bronwyn, Mangelsdorf, Marie and Gecz, Jozef (2002) Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. American Journal of Medical Genetics, 112 4: 405-411. doi:10.1002/ajmg.10714

  • Strømme, Petter, Mangelsdorf, Marie E., Scheffer, Ingrid E. and Gécz, Jozef (2002) Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain & Development, 24 5: 266-268. doi:10.1016/S0387-7604(02)00079-7

  • Strømme, Petter, Mangelsdorf, Marie E., Shaw, Marie A., Lower, Karen M., Lewis, Suzanne M. E., Bruyere, Helene, Lütcherath, Viggo, Gedeon, Ági K., Wallace, Robyn H., Scheffer, Ingrid E., Turner, Gillian, Partington, Michael, Frints, Suzanna G. M., Fryns, Jean-Pierre, Sutherland, Grant R., Mulley, John C. and Gécz, Jozef (2002) Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nature Genetics, 30 4: 441-445. doi:10.1038/ng862

  • Lower, Karen, Mangelsdorf, Marie and Gecz, Jozef (2001) Molecular genetics of X-linked mental retardation: a complex picture emerging. Expert Reviews of Molecular Diagnostics, 1 2: 220-225. doi:10.1586/14737159.1.2.220

  • Mangelsdorf, M., Ried, K., Woollatt, E., Dayan, S., Eyre, H., Finnis, M., Hobson, L., Nancarrow, J., Venter, D., Baker, E. and Richards, R. I. (2000) Chromosomal fragile site FRA16D and DNA instability in cancer. Cancer Research, 60 6: 1683-1689.

  • Ried, K., Finnis, M., Hobson, L., Mangelsdorf, M., Dayan, S., Nancarrow, J. K., Woollatt, E., Kremmidiotis, G., Gardner, A., Venter, D., Baker, E. and Richards, R. I. (2000) Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells. Human Molecular Genetics, 9 11: 1651-1663. doi:10.1093/hmg/9.11.1651

  • Hewett, DR, Handt, O, Hobson, L, Mangelsdorf, M, Eyre, HJ, Baker, E, Sutherland, GR, Schuffenhauer, S, Mao, J and Richards, RI (1998) FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis. Molecular Cell, 1 6: 773-781. doi:10.1016/S1097-2765(00)80077-5

  • Horwitz, M, Benson, KF, Li, FQ, Wolff, J, Leppert, MF, Olopade, F, Hobson, L, Mangelsdorf, M, Yu, S, Hewett, D, Richards, RI and Raskind, WH (1997) A chromosome 16 locus for familial leukemia.. American Journal of Human Genetics, 61 4: A69-A69.

  • Balow, James E., Shelton, David A., Orsborn, Annette, Mangelsdorf, Marie, Aksentijevich, Ivona, Blake, Trevor, Sood, Raman, Gardner, Dawn, Liu, Raymond, Pras, Elon, Levy, Ernesto N., Centola, Michael, Deng, Zuoming, Zaks, Nurit, Wood, Geryl, Chen, Xiaoguang, Richards, Neil, Shohat, Mordechai, Livneh, Avi, Pras, Mordechai, Doggett, Norman A., Collins, Francis S., Liu, Paul, Rotter, Jerome I., Fischel-Ghodsian, Nathan, Gumucio, Deborah, Richards, Robert I. and Kastner, Daniel L. (1997) A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups. Genomics, 44 3: 280-291. doi:10.1006/geno.1997.4860

  • Hewett, D. R., Handt, O., Hobson, L., Mangelsdorf, M., Eyre, H., Sutherland, G. R., Schuffenhauer, S. and Richards, R. I. (1997) Abstract: Positional cloning of the bromodeoxyuridine-inducible fragile site on human chromosome 10q25.2.. American Journal of Human Genetics, 61 4: A128-A128.

  • Aksentijevich, I., Centola, M., Deng, Z. M., Sood, R., Balow, J. E., Wood, G., Zaks, N., Mansfield, E., Chen, X., Eisenberg, S., Vedula, A., Shafran, N., Raben, N., Pras, E., Pras, M., Kastner, D. L., Blake, T., Baxevanis, A. D., Robbins, C., Krizman, D., Collins, F. S., Liu, P. P., Chen, X. G., Shohat, M., Hamon, M., Kahan, T., Cercek, A., Rotter, J. I., FischelGhodsian, N., Richards, N., Shelton, D. A., Gumucio, D., Yokoyama, Y., Mangelsdorf, M., Orsborn, A., Richards, R. I., Ricke, D. O., Buckingham, J. M., Moyzis, R. K., Deaven, L. L. and Doggett, N. A. (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell, 90 4: 797-807. doi:10.1016/S0092-8674(00)80539-5

  • Sood, Raman, Blake, Trevor, Aksentijevich, Ivona, Wood, Geryl, Chen, Xiang, Gardner, Dawn, Shelton, David A., Mangelsdorf, Marie, Orsborn, Annette, Pras, Elon, Balow Jr, James E., Centola, Michael, Deng, Zuoming, Zaks, Nurit, Chen, Xiaoguang, Richards, Neil, Fischel-Ghodsian, Nathan, Rotter, Jerome I., Pras, Mordechai and Shohat, Mordechai (1997) Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial mediterranean fever locus (MEFV) on chromosome 16p13.3. Genomics, 42 1: 83-95. doi:10.1006/geno.1997.4629

  • Horwitz, M, Benson, KF, Li, FQ, Wolff, J, Leppert, MF, Hobson, L, Mangelsdorf, M, Yu, S, Hewett, D, Richards, RK and Raskind, WH (1997) Genetic heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2. American Journal of Human Genetics, 61 4: 873-881. doi:10.1086/514894

  • Yu, S, Mangelsdorf, M, Hewett, D, Hobson, L, Baker, E, Eyre, HJ, Lapsys, N, LePaslier, D, Doggett, NA, Sutherland, GR and Richards, RI (1997) Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell, 88 3: 367-374. doi:10.1016/S0092-8674(00)81875-9

  • Richards, RI, Crawford, J, Narahara, K, Mangelsdorf, M, Friend, K, Staples, A, Denton, M, Easteal, S, Hori, TA, Kondo, I, Jenkins, T, Goldman, A, Panich, V, Ferakova, E and Sutherland, GR (1996) Dynamic mutation loci: Allele distributions in different populations. Annals of Human Genetics, 60 391-400. doi:10.1111/j.1469-1809.1996.tb00437.x

  • Nancarrow, JK, Holman, K, Mangelsdorf, M, Hori, T, Denton, M, Sutherland, GR and Richards, RI (1995) Molecular-Basis of P(Ccg)N Repeat Instability At the Fra16A Fragile Site Locus. Human Molecular Genetics, 4 3: 367-372. doi:10.1093/hmg/4.3.367

Conference Publication

  • Mangelsdorf, M. E., Finnis, M., Hobson, L., Hodgson, B., Turner, G., Partington, M., Schwartz, C., Stevenson, R. E., Lubs, H., Holinski-Feder, E., Mulley, J. and Gecz, J (2002). AFX mutations frequently cause X-linked mental retardation. In: American Journal of Human Genetics: 52nd Annual Meeting of the American Society of Human Genetics. 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, Maryland, USA, (541-541). 15 - 19 October, 2002.

Grants (Administered at UQ)

PhD and MPhil Supervision

Completed Supervision