Welcome to my site!

I am interested in neurodegenerative diseases.
I am interested in RNA biology.
I use a combination of molecular and systems biology approaches
to gain insights into disease mechanism.

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lab

THE LAB

Read news from the lab and our publications, meet our funding bodies and find open positions in the lab.
research

THE RESEARCH

Discover our research projects and learn about the methods we are using.

THE PEOPLE

Meet the people in the lab.

CONTACT

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The lab

News - 2018


Welcome to the lab Philipp

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

HD_triade

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.

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.

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.

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.
splicing

Collaborations

UCL, UK

Bates lab

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UCL, UK

Tabrizi lab

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Ulm, D

Orth lab

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Regensburg, D

Braunger lab

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UPenn, US

Davidson lab

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Michigan, US

Lieberman lab

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Emory, US

Li lab

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IGBMC, France

Trottier lab

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contact

Address

Department of Neurology
Ulm University
Helmholtzstrasse 8/1 ZBMF
89081 Ulm
Germany

Phone number

+49 (0)731 500 63153

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