All Stories

  1. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

    Article • Open Biology, June 2015, Royal Society Publishing

    Dr Mark T Handley

  2. Rab18 and a Rab18 GEF complex are required for normal ER structure

    Article • The Journal of Cell Biology, June 2014, Rockefeller University Press

    Dr Mark T Handley

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

    Article • Disease Models & Mechanisms, April 2014, The Company of Biologists

    Dr Mark T Handley

  4. 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

    Article • Molecular Genetics & Genomic Medicine, March 2014, Wiley

    Dr Mark T Handley

  5. Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Article • The American Journal of Human Genetics, December 2013, Elsevier

    Mrs Renata Posmyk, Dr Mark T Handley

  6. Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

    Article • Human Mutation, April 2013, Wiley

    Dr Mark T Handley

  7. RAB3GAP1 , RAB3GAP2 and RAB18 : disease genes in Micro and Martsolf syndromes

    Article • Biochemical Society Transactions, December 2012, Portland Press Ltd.

    Dr Mark T Handley

  8. Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

    Article • The American Journal of Human Genetics, April 2011, Elsevier

    Dr Mark T Handley

  9. Structural and Functional Deficits in a Neuronal Calcium Sensor-1 Mutant Identified in a Case of Autistic Spectrum Disorder

    Article • PLoS ONE, May 2010, PLOS

    Dr Mark T Handley

  10. The Functions of Munc18-1 in Regulated Exocytosis

    Article • Annals of the New York Academy of Sciences, January 2009, Wiley

    Dr Mark T Handley

  11. The Rab27 effector Rabphilin, unlike Granuphilin and Noc2, rapidly exchanges between secretory granules and cytosol in PC12 cells

    Article • Biochemical and Biophysical Research Communications, August 2008, Elsevier

    Dr Mark T Handley

  12. A gain-of-function mutant of Munc18-1 stimulates secretory granule recruitment and exocytosis and reveals a direct interaction of Munc18-1 with Rab3

    Article • Biochemical Journal, January 2008, Portland Press Ltd.

    Dr Mark T Handley

  13. Differential dynamics of Rab3A and Rab27A on secretory granules

    Article • Journal of Cell Science, February 2007, The Company of Biologists

    Dr Mark T Handley

  14. Insulin-Like Growth Factor Binding Protein-5 Is a Target of Matrix Metalloproteinase-7: Implications for Epithelial-Mesenchymal Signaling

    Article • Cancer Research, August 2005, American Association for Cancer Research (AACR)

    Dr Mark T Handley