Journal Article (Review Article)

DZNE-2020-04683

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png The MID1 protein is a central player during development and in disease.

Winter, J. ; Basilicata, M. F. ; Stemmler, M. P. ; Krauß, S. (Last author)DZNE*

2016
Tampa, Fla.

This record in other databases:    

Please use a persistent id in citations: doi:10.2741/4413

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.

Keyword(s): Ubiquitin-Protein Ligases (MeSH) ; Alzheimer Disease: physiopathology (MeSH) ; Animals (MeSH) ; Carcinogenesis (MeSH) ; Congenital Abnormalities (MeSH) ; Humans (MeSH) ; Huntington Disease: physiopathology (MeSH) ; Mice (MeSH) ; Microtubule Proteins: genetics (MeSH) ; Microtubule Proteins: physiology (MeSH) ; Mutation (MeSH) ; Nuclear Proteins: genetics (MeSH) ; Nuclear Proteins: physiology (MeSH) ; Transcription Factors: genetics (MeSH) ; Transcription Factors: physiology (MeSH) ; Microtubule Proteins ; Nuclear Proteins ; Transcription Factors ; Mid1 protein, human

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Contributing Institute(s):

1. Regulatory RNA-protein interaction in neurodegenerative diseases (AG Krauß)

Research Program(s):

1. 342 - Disease Mechanisms and Model Systems (POF3-342) (POF3-342)

Appears in the scientific report 2016

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Database coverage:
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection ; Zoological Record

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