Difference between revisions of "Assmann 2016 Cell Rep"
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{{Publication | {{Publication | ||
|title=Assmann N, Dettmer K, Simbuerger JM, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J (2016) Renal fanconi syndrome is caused by a mistargeting-based mitochondriopathy. Cell Rep 15:1423-9. Β | |title=Assmann N, Dettmer K, Simbuerger JM, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J (2016) Renal fanconi syndrome is caused by a mistargeting-based mitochondriopathy. Cell Rep 15:1423-9. | ||
|info=[http://www.ncbi.nlm.nih.gov/pubmed/27160910 PMID: 27160910 Open Access] | |info=[http://www.ncbi.nlm.nih.gov/pubmed/27160910 PMID: 27160910 Open Access] | ||
|authors=Assmann N, Dettmer K, Simbuerger JM, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J | |authors=Assmann N, Dettmer K, Simbuerger JM, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J | ||
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Copyright Β© 2016 The Author(s). Published by Elsevier Inc. All rights reserved. | Copyright Β© 2016 The Author(s). Published by Elsevier Inc. All rights reserved. | ||
|keywords=Fanconi syndrome, Fatty acid oxidation, Mitochondriopathy, Supercomplexes | |keywords=Fanconi syndrome, Fatty acid oxidation, Mitochondriopathy, Supercomplexes, Pig kidney LLC-PK1 cells | ||
|mipnetlab=DE Regensburg Renner-Sattler K | |mipnetlab=DE Regensburg Renner-Sattler K | ||
}} | }} | ||
{{Labeling | {{Labeling | ||
|area=Respiration | |area=Respiration, Genetic knockout;overexpression | ||
|diseases=Other | |||
|organism=Pig | |organism=Pig | ||
|tissues=Kidney | |tissues=Kidney, Other cell lines | ||
|preparations=Intact cells | |preparations=Intact cells | ||
|enzymes=Supercomplex | |enzymes=Supercomplex | ||
|couplingstates=LEAK, OXPHOS, ET | |||
|couplingstates=LEAK, OXPHOS, | |pathways=F, N, S, NS, Other combinations, ROX | ||
| | |||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
|additional= | |additional=2016-07 | ||
}} | }} | ||
Latest revision as of 16:51, 9 November 2017
| Assmann N, Dettmer K, Simbuerger JM, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J (2016) Renal fanconi syndrome is caused by a mistargeting-based mitochondriopathy. Cell Rep 15:1423-9. |
Assmann N, Dettmer K, Simbuerger JM, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J (2016) Cell Rep
Abstract: We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial energy production and, consequently, reabsorption of electrolytes and low-molecular-weight nutrients in the proximal tubule. Here, we further elucidate the molecular mechanism underlying this pathology. We find that mutated EHHADH is incorporated into mitochondrial trifunctional protein (MTP), thereby disturbing Ξ²-oxidation of long-chain fatty acids. The resulting MTP deficiency leads to a characteristic accumulation of hydroxyacyl- and acylcarnitines. Mutated EHHADH also limits respiratory complex I and corresponding supercomplex formation, leading to decreases in oxidative phosphorylation capacity, mitochondrial membrane potential maintenance, and ATP generation. Activity of the Na(+)/K(+)-ATPase is thereby diminished, ultimately decreasing the transport activity of the proximal tubule cells.
Copyright Β© 2016 The Author(s). Published by Elsevier Inc. All rights reserved. β’ Keywords: Fanconi syndrome, Fatty acid oxidation, Mitochondriopathy, Supercomplexes, Pig kidney LLC-PK1 cells
β’ O2k-Network Lab: DE Regensburg Renner-Sattler K
Labels: MiParea: Respiration, Genetic knockout;overexpression
Pathology: Other
Organism: Pig Tissue;cell: Kidney, Other cell lines Preparation: Intact cells Enzyme: Supercomplex
Coupling state: LEAK, OXPHOS, ET Pathway: F, N, S, NS, Other combinations, ROX HRR: Oxygraph-2k
2016-07
