Edinburgh Research Explorer

Irene Aligianis

(Former employee or visitor)

  1. 2019
  2. ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

    Handley, M., Reddy, K., Wills, J., Rosser, E., Kamath, A., Halachev, M., Falkous, G., Williams, D., Cox, P., Meynert, A., Raymond, E., Morrison, H., Brown, S., Allan, E., Aligianis, I., Jackson, A. P., Ramsahoye, B. H., Von Kriegsheim, A., Taylor, R. W., Finch, A. J. & 1 others, FitzPatrick, D. R., 11 Mar 2019, In: PLoS Genetics.

    Research output: Contribution to journalArticlepeer-review

  3. 2017
  4. PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

    Hall, E. A., Nahorski, M. S., Murray, L. M., Shaheen, R., Perkins, E., Dissanayake, K. N., Kristaryanto, Y., Jones, R., Vogt, J., Rivagorda, M., Handley, M. T., Mali, G. R., Quidwai, T., Soares, D. C., Keighren, M. A., Mckie, L., Mort, R. L., Gammoh, N., Garcia-munoz, A., Davey, T. & 15 others, Vermeren, M., Walsh, D., Budd, P., Aligianis, I. A., Faqeih, E., Quigley, A. J., Jackson, I. J., Kulathu, Y., Jackson, M., Ribchester, R. R., Von Kriegsheim, A., Alkuraya, F. S., Woods, C. G., Maher, E. R. & Mill, P., 4 May 2017, In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  5. 2015
  6. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

    Handley, M. T., Carpanini, S., Mali, G., Sidjanin, D. J., Aligianis, I. A., Jackson, I. J. & Fitzpatrick, D. R., 1 Jun 2015, In: Open Biology. 5, 6, 150047.

    Research output: Contribution to journalArticlepeer-review

  7. 2014
  8. Rab18 and a Rab18 GEF complex are required for normal ER structure

    Gerondopoulos, A., Bastos, R. N., Yoshimura, S., Anderson, R., Carpanini, S., Aligianis, I., Handley, M. T. & Barr, F. A., 2 Jun 2014, In: Journal of Cell Biology. 205, 5, p. 707-720 14 p.

    Research output: Contribution to journalArticlepeer-review

  9. A novel mouse model of Warburg Micro Syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

    Carpanini, S. M., McKie, L., Thomson, D., Wright, A. K., Gordon, S. L., Roche, S. L., Handley, M. T., Morrison, H., Brownstein, D., Wishart, T. M., Cousin, M. A., Gillingwater, T. H., Aligianis, I. A. & Jackson, I. J., 28 May 2014, In: Disease Models and Mechanisms (DMM). 7, 6, p. 711-722 12 p.

    Research output: Contribution to journalArticlepeer-review

  10. Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

    Handley, M. T., Megarbane, A., Meynert, A. M., Brown, S., Freyer, E., Taylor, M. S., Jackson, I. J. & Aligianis, I. A., 1 Mar 2014, In: Molecular Genetics & Genomic Medicine. 2, 4, p. 319-325

    Research output: Contribution to journalArticlepeer-review

  11. 2013
  12. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

    Liegel, R. P., Handley, M. T., Ronchetti, A., Brown, S., Langemeyer, L., Linford, A., Chang, B., Morris-Rosendhal, D. J., Carpanini, S., Posmyk, R., Harthill, V., Sheridan, E., Abdel-Salam, G. M. H., Terhal, P. A., Faravelli, F., Accorsi, P., Giordano, L., Pinelli, L., Hartmann, B., Ebert, A. D. & 3 others, Barr, F. A., Aligianis, I. & Sidjanin, D. J., Dec 2013, In: American Journal of Human Genetics. 93, 6, p. 1001-4 4 p.

    Research output: Contribution to journalArticlepeer-review

  13. Mutation Spectrum in RAB3GAP1, RAB3GAP2 and RAB18 and Genotype-Phenotype Correlations in Warburg Micro syndrome and Martsolf Syndrome

    Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., Pinelli, L., Basel-Vanagaite, L., Peretz, G., Abdel-Salam, G. M. H., Zaki, M. S., Jansen, A., Mowat, D., Glass, I. & 12 others, Stewart, H., Mancini, G., Lederer, D., Roscioli, T., Giuliano, F., Plomp, A. S., Rolfs, A., Graham, J. M., Seemanova, E., Jackson, I. J., Maher, E. R. & Aligianis, I. A., May 2013, In: Human Mutation. 34, 5, p. 686-696 11 p.

    Research output: Contribution to journalArticlepeer-review

  14. 2012
  15. A novel RAB18 mouse model of Warburg Micro syndrome

    Carpanini, S., Mckie, L., Thomson, D., Wright, A., Gordon, S., Roche, S., Handley, M., Brownstein, D., Cousin, M., Gillingwater, T., Aligianis, I. & Jackson, I., Dec 2012, In: Genetics Research. 94, 6, p. 359-359 1 p.

    Research output: Contribution to journalMeeting abstract

  16. 2011
  17. Loss-of-function mutations in RAB18 cause Warburg micro syndrome

    Bem, D., Yoshimura, S-I., Nunes-Bastos, R., Bond, F. C., Bond, F. C., Kurian, M. A., Rahman, F., Handley, M. T. W., Hadzhiev, Y., Masood, I., Straatman-Iwanowska, A. A., Cullinane, A. R., McNeill, A., Pasha, S. S., Kirby, G. A., Foster, K., Ahmed, Z., Morton, J. E., Williams, D., Graham, J. M. & 8 others, Dobyns, W. B., Burglen, L., Ainsworth, J. R., Gissen, P., Müller, F., Maher, E. R., Barr, F. A. & Aligianis, I. A., 2011, In: American Journal of Human Genetics. 88, 4, p. 499-507 9 p.

    Research output: Contribution to journalArticlepeer-review