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Laboratory of Developmental Neuroendocrinology  

lab Prof. Roberto Maggi


Research topics

The Developmental Neuroendocrinology lab organizes activities on different research areas, including:

  • investigation on the mechanisms involved in the development, migration and differentiation of Gonadotropin-Releasing Hormone (GnRH)neurons, as pathogenic factors for congenitalhypogonadotropin hypogonadisms (HH) and other genetic diseases (e.g. Down’s syndrome)
  • study of the role of cholesterol biosynthetic enzyme DHCR24 in neuronal survival
  • study of neural hypothalamic stem cells as a model to investigate the mechanisms involved in the specific differentiation of different hypothalamic neuroenedocrine neurons.

 

Techniques

Neural cell cultures

  • In vitro assays cell  migration, adhesion, proliferation and survival
  • Analysis of gene expression (PCR, real time PCR)
  • Innunohistochemistry, immunocytochemistry, immunofluorescence and immunoblotting
  • Bioluminescnce tests for  in vitro transcriptional activity

 

Collaborators

Elia Di Schiavi, Institute of Biosciences and BioResources,CNR Naples
Giorgio Merlo, Dept. of Molecular Biotechnology and Life, Università degli Studi di Torino
Giulio Vistoli, Dip. Pharmaceutical Sciences, Università degli Studi di Milano
Elena Rugarli, Institute for Genetics CECAD Research Center, University of Cologne, Köln, Germany
Fernando De Castro, Molecular, Cellular and Developmental Neurobiology, Instituto Cajal-CSIC, Madrid (Spagna)
Richard Quinton, Institute of Genetic MedicineNewcastle University, Newcastle-upon-Tyne (UK)

 

Selected publications

  1. Palumbo P, Petracca A, Maggi R, Biagini T, Nardella G, Sacco MC, Di Schiavi E, Carella M, Micale L, Castori M. 2019. A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway. European Journal of Human Genetics.
  2. Messi E, Pimpinelli F, Andre V, Rigobello C, Gotti C, Maggi R. 2018. The alpha-7 nicotinic acetylcholine receptor is involved in a direct inhibitory effect of nicotine on GnRH release: In vitro studies. Mol Cell Endocrinol 460:209-218.
  3. Maggi R, Cariboni AM, Marelli MM, Moretti RM, Andre V, Marzagalli M, Limonta P. 2016. GnRH and GnRH receptors in the pathophysiology of the human female reproductive system. Hum Reprod Update 22.
  4. Cariboni A, Davidson K, Rakic S, Maggi R, Parnavelas J, Ruhrberg C. 2011. Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism. Human Molecular Genetics 20:336-344.
  5. Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R. 2004. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. Human Molecular Genetics 13:2781-2791.

 

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