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Helen May-Simera

Primary Cilia Regulation of Signalling in Development and Disease

Primary cilia are microtubule-based cellular appendages that function as sensory organelles. Ignored for decades, they are now known to serve as cellular signalling hubs sensing environmental cues and are pivotal for organ development and tissue homeostasis. Defects in primary cilia lead to a plethora of human diseases, collectively termed ciliopathies, the two most common phenotypes of which include retinal degeneration and renal disease. One of the key roles of the primary cilium is to regulate various signalling pathways. One of the first signalling pathways shown to be associated with the primary cilium is the wingless (WNT) signalling pathway, known to regulate diverse processes during development, including cell fate, structural remodelling and cell polarity.

Research website

Positions held

  • Since 2021: University Professor, Institute of Molecular Physiology, Johannes Gutenberg University (JGU) Mainz
  • 2015 - 2021: Junior Professor, Institute of Molecular Physiology, Johannes Gutenberg University (JGU), Mainz
  • 2012 - 2014: Research Fellow, National Eye Institute, National Institute of Health
  • 2008 - 2011: Postdoctoral Fellow, National Institute of Deafness and Communication Disorders, National Institute of Health

Education

  • 2003 - 2008: University College London, UK, PhD - Mutational and Functional Analyses of Bardet-Biedl syndrome
  • 2003: University of Bath, UK, Master of Biochemistry (MBiochem) (II-I)

Selected publications by Helen May-Simera

Schneider S, De Cegli R, Nagarajan J, Kretschmer V, Matthiessen PA, Intartaglia D, Hotaling N, Ueffing M, Boldt K, Conte I and May-Simera HL (2021) Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epitheliumFront Cell Dev Biol, 9:607121 Link

Patnaik SR, Kretschmer V, Brücker L, Schneider S, Volz AK, Oancea-Castillo LDR and May-Simera HL (2019) Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturationCell Mol Life Sci, 76(4):757-775 Link

May-Simera HL, Wan Q, Jha BS, Hartford J, Khristov V, Dejene R, Chang J, Patnaik S, Lu Q, Banerjee P, Silver J, Insinna-Kettenhofen C, Patel D, Lotfi M, Malicdan M, Hotaling N, Maminishkis A, Sridharan R, Brooks B, Miyagishima K, Gunay-Aygun M, Pal R, Westlake C, Miller S, Sharma R and Bharti K (2018) Primary cilium mediated retinal pigment epithelium maturation is retarded in ciliopathy patient cellsCell Reports, 2;22(1):189-205 Link

May-Simera HL, Nagel-Wolfrum K and Wolfrum U (2017) Cilia - the sensory antennae in the eyeProg Retin Eye Res, 60:144-180 Link