Radboud Research Round

Theme: Mitochondrial Diseases

Date:
27 November 2014 16:00 hrs. - 17:30 hrs.
Location:
Tuinzaal, route 706
Title:
From molecular mechanisms to disease phenotypes
Host(s):

 

27-11-2014 16:00:0027-11-2014 17:30:00Europe/AmsterdamFrom molecular mechanisms to disease phenotypes  Tuinzaal, route 706Rimlsrimls@radboudumc.nl

Remarks / more information:

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Theme: Mitochondrial Diseases

 

 

 

 

 

 

Program

16.00 Introduction
 Ulrich Brandt (Pediatrics)
16.10

Building a giant molecular machine: the assembly pathway of mitochondrial complex l
Sergio Guerrero (Pediatrics)

16.35

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors
Herma Renkema (Pediatrics)

17.00

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminating feature
Saskia Wortmann-Hagemann (pediatrics)

17.15

Discussion
chaired by Ulrich Brandt (Pediatrics)

17.30

Research Cafe

 

Topic of the discussion Mitochondrial disease: more than just energy failure?
Mitochondria are far more than the "powerhouse" of the cell. They play a pivotal role in metabolic homeostasis, intracellular signaling and cell survival. Mitochondrial dysfunction isthus involved in a many degenerative disorders and ageing. Can inborn errors causing mitochondrial diseases serve as a paradigm for degenerative diseases?

These lectures are intended for students, post‐docs and staff interested in the latest fundamental and clinical research strategies within a particular theme. Registration is not required.

Next Radboud Research Round December 4 Vascular Damage



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