Research Output

2020

Developing a multivariable prediction model for functional outcome after reperfusion therapy for acute ischaemic stroke: study protocol for the Targeting Optimal Thrombolysis Outcomes (TOTO) multicentre cohort study

Holliday, E., Lillicrap, T., Kleinig, T., Choi, P. M. C., Maguire, J., Bivard, A., Lincz, L. F., Hamilton-Bruce, M. A., Rao, S. R., Snel, M. F., Trim, P. J., Lin, L., Parsons, M. W., Worrall, B. B., Koblar, S., Attia, J. & Levi, C., 6 Apr 2020, In : BMJ Open. 10, 4, p. e038180 038180.

Research output: Contribution to journalArticle

Lineage of measurable residual disease in patients with chronic myeloid leukemia in treatment-free remission

Pagani, I. S., Dang, P., Saunders, V. A., Grose, R., Shanmuganathan, N., Kok, C. H., Carne, L., Rwodzi, Z., Watts, S., McLean, J., Braley, J., Altamura, H., Yeung, D. T., Branford, S., Yong, A. S. M., White, D. L., Hughes, T. P. & Ross, D. M., Apr 2020, In : Leukemia. 34, 4, p. 1052-1061 10 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Reciprocal signaling between mTORC1 and MNK2 controls cell growth and oncogenesis

Xie, J., Shen, K., Jones, A. T., Yang, J., Tee, A. R., Shen, M. H., Yu, M., Irani, S., Wong, D., Merrett, J. E., Lenchine, R. V., De Poi, S., Jensen, K., Trim, P., Snel, M., Kamei, M., Martin, S., Fitter, S., Tian, S., Wang, X. & 3 others, Butler, L., Zannettino, A. & Proud, C., 1 Jan 2020, In : Cellular and Molecular Life Sciences.

Research output: Contribution to journalArticle

2019

AAVrh10 vector corrects disease pathology in MPS IIIA mice and achieves widespread distribution of SGSH in large animal brains

Hocquemiller, M., Hemsley, K. M., Douglass, M. L., Tamang, S., Neumann, D., King, B., Beard, H., Trim, P., Winner, L., Bowen, A., Snel, M., Gomila, C., Ausseil, J., Mei, X., Giersch, L., Plavsic, M. & Laufer, R., 9 Dec 2019, In : Molecular Therapy - Methods and Clinical Development. 17, p. 174-187 14 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

A Y-chromosome shredding gene drive for controlling pest vertebrate populations

Prowse, T. A., Adikusuma, F., Cassey, P., Thomas, P. & Ross, J. V., 1 Feb 2019, In : eLife. 8, e41873.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein

Soe, K., Beard, H., Neumann, D., Trim, P., Duplock, S., Snel, M., Hopwood, J. & Hemsley, K., 1 Dec 2019, In : Neuropathology and Applied Neurobiology. 45, 7, p. 715-731 17 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Evaluation of Small Molecule Drug Uptake in Patient-Derived Prostate Cancer Explants by Mass Spectrometry

Mutuku, S. M., Trim, P. J., Prabhala, B. K., Irani, S., Bremert, K. L., Logan, J. M., Brooks, D. A., Stahl, J., Centenera, M. M., Snel, M. F. & Butler, L. M., 1 Dec 2019, In : Scientific reports. 9, 1, 15008.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Synthetic Disaccharide Standards Enable Quantitative Analysis of Stored Heparan Sulfate in MPS IIIA Murine Brain Regions

He, Q. Q., Trim, P. J., Lau, A. A., King, B. M., Hopwood, J. J., Hemsley, K. M., Snel, M. F. & Ferro, V., 21 Aug 2019, In : ACS Chemical Neuroscience. 10, 8, p. 3847-3858 12 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2018

Cell banking for regulatory T cell-based therapy: Strategies to overcome the impact of cryopreservation on the Treg viability and phenotype

Gołab, K., Grose, R., Placencia, V., Wickrema, A., Solomina, J., Tibudan, M., Konsur, E., Ciepły, K., Marek-Trzonkowska, N., Trzonkowski, P., Millis, J. M., Fung, J. & Witkowski, P., 1 Jan 2018, In : Oncotarget. 9, 11, p. 9728-9740 13 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Evaluation of disease lesions in the developing canine MPS IIIA brain

Winner, L. K., Marshall, N. R., Jolly, R. D., Trim, P. J., Duplock, S. K., Snel, M. F. & Hemsley, K. M., 20 Jun 2018, JIMD Reports. Springer, p. 91-101 11 p. (JIMD Reports; vol. 43).

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Citations (Scopus)

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

MacGregor, S., Ong, J-S., An, J., Han, X., Zhou, T., Siggs, O. M., Law, M. H., Souzeau, E., Sharma, S., Lynn, D. J., Beesley, J., Sheldrick, B., Mills, R. A., Landers, J., Ruddle, J. B., Graham, S. L., Healey, P. R., White, A. J. R., Casson, R. J., Best, S. & 12 others, Grigg, J. R., Goldberg, I., Powell, J. E., Whiteman, D. C., Radford-Smith, G. L., Martin, N. G., Montgomery, G. W., Burdon, K. P., Mackey, D. A., Gharahkhani, P., Craig, J. E. & Hewitt, A. W., 2018, In : Nature Genetics. 50, 8, p. 1067-1071 5 p.

Research output: Contribution to journalArticle

31 Citations (Scopus)

Ion Mobility Separation Mass Spectrometry Imaging

Snel, M. F., 2018, (Accepted/In press) In : Comprehensive Analytical Chemistry.

Research output: Contribution to journalArticle

Large deletions induced by Cas9 cleavage

Adikusuma, F., Piltz, S., Corbett, M. A., Turvey, M., McColl, S. R., Helbig, K. J., Beard, M. R., Hughes, J., Pomerantz, R. T. & Thomas, P., 9 Aug 2018, In : Nature. 560, 7717, p. E8-E9

Research output: Contribution to journalArticle

40 Citations (Scopus)

Lysosomal LAMP1 immunoreactivity exists in both diffuse and neuritic amyloid plaques in the human hippocampus

Hassiotis, S., Manavis, J., Blumbergs, P. C., Hattersley, K., Carosi, J. M., Kamei, M. & Sargeant, T., 1 May 2018, In : European Journal of Neuroscience. 47, 9, p. 1043-1053 11 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Lysosomal N-acetyltransferase interacts with ALIX and is detected in extracellular vesicles

Fedele, A. O., Isenmann, S., Kamei, M., Snel, M., Trim, P., Proud, C. & Hopwood, J., 1 Oct 2018, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1865, 10, p. 1451-1464 14 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

mTORC1 plays an important role in osteoblastic regulation of B-lymphopoiesis

Martin, S. K., Fitter, S., El Khawanky, N., Grose, R., Walkley, C. R., Purton, L. E., Ruegg, M. A., Hall, M. N., Gronthos, S. & Zannettino, A., 1 Dec 2018, In : Scientific Reports. 8, 1, 14501.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA

Webber, D. L., Choo, A., Hewson, L. J., Trim, P. J., Snel, M. F., Hopwood, J. J., Richards, R. I., Hemsley, K. M. & O'Keefe, L. V., 1 May 2018, In : Experimental Neurology. 303, p. 38-47 10 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Parallel assembly of actin and tropomyosin, but not myosin II, during de novo actin filament formation in live mice

Masedunskas, A., Appaduray, M. A., Lucas, C. A., Cagigas, M. L., Heydecker, M., Holliday, M., Meiring, J. C. M., Hook, J., Kee, A., White, M., Thomas, P., Zhang, Y., Adelstein, R. S., Meckel, T., Böcking, T., Weigert, R., Bryce, N. S., Gunning, P. W. & Hardeman, E. C., 1 Mar 2018, In : Journal of cell science. 131, 6, jcs212654.

Research output: Contribution to journalArticle

9 Citations (Scopus)

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy

Homan, C. C., Pederson, S., To, T. H., Tan, C., Piltz, S., Corbett, M. A., Wolvetang, E., Thomas, P. Q., Jolly, L. A. & Gecz, J., 1 Aug 2018, In : Neurobiology of Disease. 116, p. 106-119 14 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome

Lau, A. A., King, B. M., Thorsen, C. L., Hassiotis, S., Beard, H., Trim, P. J., Whyte, L. S., Tamang, S. J., Duplock, S. K., Snel, M. F., Hopwood, J. J. & Hemsley, K. M., 27 Apr 2017, (Accepted/In press) In : Journal of Inherited Metabolic Disease. 40, 5, p. 1-10 10 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Atubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

Diggle, C. P., Martinez-Garay, I., Molnar, Z., Brinkworth, M. H., White, E., Fowler, E., Hughes, R., Hayward, B. E., Carr, I. M., Watson, C. M., Crinnion, L., Asipu, A., Woodman, B., Coletta, P. L., Markham, A. F., Dear, T. N., Bonthron, D. T., Peckham, M., Morrison, E. E. & Sheridan, E., Apr 2017, In : PloS one. 12, 4, e0174264.

Research output: Contribution to journalArticle

12 Citations (Scopus)

Functional equivalence of the SOX2 and SOX3 transcription factors in the developing mouse brain and testes

Adikusuma, F., Pederick, D., McAninch, D., Hughes, J. & Thomas, P., 1 Jul 2017, In : Genetics. 206, 3, p. 1495-1503 9 p.

Research output: Contribution to journalArticle

11 Citations (Scopus)

Genetic analysis of barley for Shochu quality

Sadohara, R., Iwami, A., Kajiwara, Y., Takashita, H., March, T. J., Coventry, S. J., Box, A. J., Degner, S. & Eglinton, J. K., 1 Mar 2017, In : Journal of Cereal Science. 74, p. 174-182 9 p.

Research output: Contribution to journalArticle

Inbred Mouse Populations Exhibit Intergenerational Changes in Intestinal Microbiota Composition and Function Following Introduction to a Facility

Choo, J. M., Trim, P. J., Leong, L. E. X., Abell, G. C. J., Brune, C., Jeffries, N., Wesselingh, S., Dear, T. N., Snel, M. F. & Rogers, G. B., 2017, In : Frontiers in Microbiology. 8, p. 608

Research output: Contribution to journalArticle

6 Citations (Scopus)

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling

Hughes, J., Dawson, R., Tea, M., McAninch, D., Piltz, S., Jackson, D., Stewart, L., Ricos, M. G., Dibbens, L. M., Harvey, N. L. & Thomas, P., 1 Dec 2017, In : Scientific reports. 7, 1, 12618.

Research output: Contribution to journalArticle

23 Citations (Scopus)

NAD deficiency, congenital malformations, and niacin supplementation

Shi, H., Enriquez, A., Rapadas, M., Martin, E. M. M. A., Wang, R., Moreau, J., Lim, C. K., Szot, J. O., Ip, E., Hughes, J. N., Sugimoto, K., Humphreys, D. T., McInerney-Leo, A. M., Leo, P. J., Maghzal, G. J., Halliday, J., Smith, J., Colley, A., Mark, P. R., Collins, F. & 13 others, Sillence, D. O., Winlaw, D. S., Ho, J. W. K., Guillemin, G. J., Brown, M. A., Kikuchi, K., Thomas, P. Q., Stocker, R., Giannoulatou, E., Chapman, G., Duncan, E. L., Sparrow, D. B. & Dunwoodie, S. L., 10 Aug 2017, In : New England Journal of Medicine. 377, 6, p. 544-552 9 p.

Research output: Contribution to journalArticle

56 Citations (Scopus)

Rodent whole-body sectioning and MALDI mass spectrometry imaging

Trim, P. J., 2017, Methods in Molecular Biology. Humana Press Inc., Vol. 1618. p. 175-189 15 p. (Methods in Molecular Biology; vol. 1618).

Research output: Chapter in Book/Report/Conference proceedingChapter

5 Citations (Scopus)

Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA

King, B., Marshall, N. R., Hassiotis, S., Trim, P. J., Tucker, J., Hattersley, K., Snel, M. F., Jolly, R. D., Hopwood, J. J. & Hemsley, K. M., 1 May 2017, In : Journal of Inherited Metabolic Disease. 40, 3, p. 443-453 11 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

The draft genome of tropical fruit durian (Durio zibethinus)

Teh, B. T., Lim, K., Yong, C. H., Ng, C. C. Y., Rao, S. R., Rajasegaran, V., Lim, W. K., Ong, C. K., Chan, K., Cheng, V. K. Y., Soh, P. S., Swarup, S., Rozen, S. G., Nagarajan, N. & Tan, P., 1 Nov 2017, In : Nature Genetics. 49, 11, p. 1633-1641 9 p.

Research output: Contribution to journalArticle

48 Citations (Scopus)

Versatile single-step-assembly CRISPR/Cas9 vectors for dual gRNA expression

Adikusuma, F., Pfitzner, C. & Thomas, P., Dec 2017, In : PloS one. 12, 12, e0187236.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Viperin is an important host restriction factor in control of Zika virus infection

Van Der Hoek, K. H., Eyre, N. S., Shue, B., Khantisitthiporn, O., Glab-Ampi, K., Carr, J. M., Gartner, M. J., Jolly, L. A., Thomas, P., Adikusuma, F., Jankovic-Karasoulos, T., Roberts, C. T., Helbig, K. J. & Beard, M. R., 1 Dec 2017, In : Scientific reports. 7, 1, 4475.

Research output: Contribution to journalArticle

45 Citations (Scopus)
2016

An overview on the role of lipids and fatty acids in barley grain and their products during beer brewing

Cozzolino, D. & Degner, S., 1 Mar 2016, In : Food Research International. 81, p. 114-121 8 p.

Research output: Contribution to journalReview article

13 Citations (Scopus)

Erratum: Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure (The Journal of Biological Chemistry (2015) 290 (25907-25919) DOI: 10.1074/jbc.M115.665695)

Cahill, T. J., Leo, V., Kelly, M., Stockenhuber, A., Kennedy, N. W., Bao, L., Cereghetti, G. M., Harper, A. R., Czibik, G., Liao, C., Bellahcene, M., Steeples, V., Ghaffari, S., Yavari, A., Mayer, A., Poulton, J., Ferguson, D. J. P., Scorrano, L., Hettiarachchi, N. T., Peers, C. & 6 others, Boyle, J., Hill, R. B., Simmons, A., Watkins, H., Dear, T. N. & Ashrafian, H., 2 Dec 2016, In : Journal of Biological Chemistry. 291, 49, 1 p.

Research output: Contribution to journalComment/debate

5 Citations (Scopus)

Genetic analysis of grain and malt quality in an elite barley population

Cu, S. T., March, T. J., Stewart, S., Degner, S., Coventry, S., Box, A., Stewart, D., Skadhauge, B., Burton, R. A., Fincher, G. B. & Eglinton, J., 1 Sep 2016, In : Molecular Breeding. 36, 9, 129.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism

Pilorge, M., Fassier, C., Le Corronc, H., Potey, A., Bai, J., De Gois, S., Delaby, E., Assouline, B., Guinchat, V., Devillard, F., Delorme, R., Nygren, G., Rastam, M., Meier, J. C., Otani, S., Cheval, H., James, V. M., Topf, M., Dear, T. N., Gillberg, C. & 7 others, Leboyer, M., Giros, B., Gautron, S., Hazan, J., Harvey, R. J., Legendre, P. & Betancur, C., 1 Jul 2016, In : Molecular Psychiatry. 21, 7, p. 936-945 10 p.

Research output: Contribution to journalArticle

39 Citations (Scopus)

Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease

Karageorgos, L., Hein, L., Rozaklis, T., Adams, M., Duplock, S., Snel, M., Hemsley, K., Kuchel, T., Smith, N. & Hopwood, J. J., 1 Jul 2016, In : Neurobiology of Disease. 91, p. 143-154 12 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Imaging blood vessels and lymphatic vessels in the zebrafish

Jung, H. M., Isogai, S., Kamei, M., Castranova, D., Gore, A. V. & Weinstein, B. M., 1 Jan 2016, The Zebrafish Cellular and Developmental Biology, Part A Cellular Biology, 2016. Zon, L. I., Detrich, H. W. & Westerfield, M. (eds.). Academic Press Inc., p. 69-103 35 p. (Methods in Cell Biology; vol. 133).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

9 Citations (Scopus)

Low-dose, continual enzyme delivery ameliorates some aspects of established brain disease in a mouse model of a childhood-onset neurodegenerative disorder

King, B., Setford, M. L., Hassiotis, S., Trim, P. J., Duplock, S., Tucker, J. N., Hattersley, K., Snel, M. F., Hopwood, J. J. & Hemsley, K. M., 1 Apr 2016, In : Experimental Neurology. 278, p. 11-21 11 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA

King, B., Hassiotis, S., Rozaklis, T., Beard, H., Trim, P. J., Snel, M. F., Hopwood, J. J. & Hemsley, K. M., 1 May 2016, In : Journal of Neurochemistry. 137, 3, p. 409-422 14 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

Pederick, D. T., Homan, C. C., Jaehne, E. J., Piltz, S. G., Haines, B. P., Baune, B. T., Jolly, L. A., Hughes, J. N., Gecz, J. & Thomas, P. Q., 31 May 2016, In : Scientific Reports. 6, 26765.

Research output: Contribution to journalArticle

26 Citations (Scopus)

Reck enables cerebrovascular development by promoting canonical Wnt signaling

Ulrich, F., Carretero-Ortega, J., Menéndez, J., Narvaez, C., Sun, B., Lancaster, E., Pershad, V., Trzaska, S., Véliz, E., Kamei, M., Prendergast, A., Kidd, K. R., Shaw, K. M., Castranova, D. A., Pham, V. N., Lo, B. D., Martin, B. L., Raible, D. W., Weinstein, B. M. & Torres-Vázquez, J., 1 Jan 2016, In : Development (Cambridge). 143, 1, p. 147-159 13 p.

Research output: Contribution to journalArticle

28 Citations (Scopus)

Relationships Between Fructans Content and Barley Malt Quality

Cozzolino, D., Degner, S. & Eglinton, J., 1 Jul 2016, In : Food Analytical Methods. 9, 7, p. 2010-2015 6 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Small molecule MALDI MS imaging: Current technologies and future challenges

Trim, P. J. & Snel, M. F., 15 Jul 2016, In : Methods. 104, p. 127-141 15 p.

Research output: Contribution to journalReview article

32 Citations (Scopus)

The clathrin-dependent spindle proteome

Rao, S. R., Flores-Rodriguez, N., Page, S. L., Wong, C., Robinson, P. J. & Chircop, M., Aug 2016, In : Molecular and Cellular Proteomics. 15, 8, p. 2537-2553 17 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

The Effect of the Addition of Emulsifiers on the Pasting Properties of Barley Grain and Malt

Cozzolino, D., Degner, S. & Eglinton, J., 1 Mar 2016, In : Food Analytical Methods. 9, 3, p. 664-669 6 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2 Citations (Scopus)

The Zebrafish Equivalent of Alzheimer's Disease-Associated PRESENILIN Isoform PS2V Regulates Inflammatory and Other Responses to Hypoxic Stress

Ebrahimie, E., Moussavi Nik, S. H., Newman, M., Van Der Hoek, M. & Lardelli, M., 10 May 2016, In : Journal of Alzheimer's Disease. 52, 2, p. 581-608 28 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)