title: The MID1 protein is a central player during development and in disease.
abstract: Loss-of-function mutations in the MID1 gene cause a rare monogenic disorder, Opitz BBB/G syndrome (OS), which is characterized by malformations of the ventral midline. The MID1 gene encodes the MID1 protein, which assembles a large microtubule-associated protein complex. Intensive research over the past several years has shed light on the function of the MID1 protein as a ubiquitin ligase and regulator of mTOR signalling and translational activator. As a central player in the cell MID1 has been implicated in the pathogenesis of various other disorders in addition to OS including cancer and neurodegenerative diseases. Influencing the activity of the MID1 protein complex is a promising new strategy for the treatment of these diseases. In this review we will summarize the current knowledge about MID1, its involvement in the pathogenesis of OS and other diseases and possible strategies for therapy development.
authors.affiliation: 1Institute of Human Genetics University Medical Centre of the Johannes Gutenberg University, Langenbeckstr. 1, 55131 Mainz, Germany.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Winter
authors.affiliation: Department of Molecular Embryology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108 Freiburg, Germany, Department of Chromatin Regulation, Max Planck Institute of Immunobiology and Epigenetics, 79108 Freiburg, Germany.
authors.forename: M Felicia
authors.initials: MF
authors.lastname: Basilicata
authors.affiliation: Department of Molecular Embryology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108 Freiburg, Germany, 4Department of Experimental Medicine I, Nikolaus-Fiebiger Center for Molecular Medicine, Friedrich-Alexander University, 9015.
authors.forename: Marc P
authors.initials: MP
authors.lastname: Stemmler
authors.affiliation: German Center for Neurodegenerative Diseases (DZNE), Sigmund-Freud-Str.25, 53127 Bonn, Germany, sybille.krauss@dzne.de.
authors.forename: Sybille
authors.initials: S
authors.lastname: Krauss
mesh_terms: D000544:Alzheimer Disease / Q000503:physiopathology; D000818:Animals; D063646:Carcinogenesis; D000013:Congenital Abnormalities; D006801:Humans; D006816:Huntington Disease / Q000503:physiopathology; D051379:Mice; D008868:Microtubule Proteins / Q000235:genetics / Q000502:physiology*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics / Q000502:physiology*; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology*; D044767:Ubiquitin-Protein Ligases
chemical_list: D008868:Microtubule Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; C109052:MID1 protein, human; D044767:Ubiquitin-Protein Ligases