THE LAB
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The lab
News - 2018
Welcome to the lab Franziska
Welcome to the lab Sarah
Paper got accepted!
Our new paper about mechanisms that contribute to HTT mis-splicing got accepted by Nature Communications!
Accessible from here:
https://doi.org/10.1038/s41467-018-06281-3
website created
Website is running
Funding bodies
The research
Huntington's Disease (HD)
(A) The CAG repeat expansion mutation in HTT leads to a polyQ tract in the HTT protein. (B) HD manifests with a triade of motor (chorea), cognitive and psychiatric symptoms.
Background
Huntington’s disease (HD) was first described in 1872 by George Huntington and is a late-onset, autosomal dominant, inherited neurodegenerative disorder. It is caused by a CAG repeat expansion mutation in exon 1 of the HTT gene resulting in an expanded polyglutamine (polyQ) tract in the huntingtin protein.
Read more here.
Read more here.
Molecular Changes
The expanded polyQ tract of mutated HTT results in toxic gains-of-function of the protein, the generation of small fragments of HTT, the appearance of aggregates and disruption of various cellular processes. Eventually these events lead to cell death, most prominent in the neurons of the striatum.
Read more here.
Exon 1 HTT
We have previously identified a novel mechanism that leads to the generation of the most toxic fragment of HTT: exon 1 HTT. This fragment consists only of exon 1 of the HTT protein including the polyQ tract. The generation of this fragment is based on a block in the correct splicing reaction of exon 1 HTT to exon 2 HTT. This RNA based pathogenic process occurs in all knock-in mouse models of HD, but also in human HD patients.
Read the publications here and here.
The Projects
We use a combination of molecular biology and systems biology approaches to unravel mechanisms driving HD pathogenesis.
Generation of novel models
We design, establish and analyse new models for certain aspects of pathogenetic mechanisms in HD.
'omics
We generate and analyse 'big data' in the context of HD. These datasets come from various biological sources and we use advanced network based bioinformatics to evaluate and integrate the 'omics datasets.
RNA biology
We are interested in the contribution of RNA based mechanisms to cell (type specific) toxicity in HD. In particluar we try to unravel mechanisms that contribute to the incomplete splicing of the HTT mRNA.
Andreas Neueder
Collaborations
contact
Address
Department of Neurology
Ulm University
Helmholtzstrasse 8/1 ZBMF
89081 Ulm
Germany
Ulm University
Helmholtzstrasse 8/1 ZBMF
89081 Ulm
Germany
Phone number
+49 (0)731 500 63153
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