Funktion des Mpv17 proteins, dessen Ausfall Mitochondriale DNA Depletion, eine meist tödlich verlaufende Erkrankung von Kleinkindern auslöst

Fachbereiche und Institute: 
Angewandte Naturwissenschaften
Von: 
20.04.2006
to
28.02.2019

Projektleitung an der H-BRS

Prof. Dr. Hans Weiher

Professor für Humangenetik/Molekulargenetik
Hochschule Bonn-Rhein-Sieg
E-Mail: 
hans.weiher [at] h-brs.de

Publikationen

1: Weiher H, Pircher H, Jansen-Dürr P, Hegenbarth S, Knolle P, Grunau S, Vapola M, Hiltunen JK, Zwacka RM, Schmelzer E, Reumann K, Will H. A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells. BMC Res Notes. 2016 Feb 27;9(1):128. doi: 10.1186/s13104-016-1939-0. PubMed PMID: 26921094; PubMed Central PMCID: PMC4769525.

2: Antonenkov VD, Isomursu A, Mennerich D, Vapola MH, Weiher H, Kietzmann T, Hiltunen JK. The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. J Biol Chem. 2015 May 29;290(22):13840-61. doi: 10.1074/jbc.M114.608083. Epub 2015 Apr 10. PubMed PMID: 25861990; PubMed Central PMCID: PMC4447960.

3: Löllgen S, Weiher H. The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species. Biol Chem. 2015 Jan;396(1):13-25. doi: 10.1515/hsz-2014-0198. Review. PubMed PMID: 25205723.

4: Weiher H, Zwacka RM. Vitamin D3-24-hydroxylase (CYP24) as a potential target for intervention with diabetic and nondiabetic nephropathy. Clin Lab. 2007;53(1-2):85-8. PubMed PMID: 17323831.

5: Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006 May;38(5):570-5. Epub 2006 Apr 2. PubMed PMID: 16582910. 6: Jäkel CE, Meschenmoser K, Kim Y, Weiher H, Schmidt-Wolf IG. Efficacy of a proapoptotic peptide towards cancer cells. In Vivo. 2012 May-Jun;26(3):419-26. PubMed PMID: 22523294.

7: Schenkel J, Weiher H, Fürstenberger G, Jäger R. Suprabasal BCL-2 expression does not sensitize to chemically-induced skin cancer in transgenic mice. Anticancer Res. 2008 Sep-Oct;28(5A):2825-9. PubMed PMID: 19035317.

8: Brauers J, Kresken M, Menke A, Orland A, Weiher H, Morrissey I. Bactericidal activity of daptomycin, vancomycin, teicoplanin and linezolid against Staphylococcus aureus, Enterococcus faecalis and Enterococcus faecium using human peak free serum drug concentrations. Int J Antimicrob Agents. 2007 Mar;29(3):322-5. Epub 2007 Jan 3. PubMed PMID: 17204403.