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Difference between revisions of "Guillet 2010 neurogenetics"

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|year=2009
|year=2009
|journal=Neurogenetics
|journal=Neurogenetics
|abstract=Charcotā€“Marieā€“Tooth type 2A disease (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in ''MFN2'', a mitochondrial fusion protein. Having previously demonstrated a mitochondrial coupling defect in CMT2A patientsā€™ fibroblasts, we here investigate mitochondrial oxygen consumption and the expression of adenine nucleotide translocase (ANT) and uncoupling proteins from eight other patients with the disease. The mitochondrial uncoupling was associated with a higher respiratory rate, essentially involving complex II proteins. Furthermore, a twofold increase in the expression of ANT led to the reduced efficiency of oxidative phosphorylation in CMT2A cells, suggesting that ''MFN2'' plays a role in controlling ATP/ADP exchanges. Ā 
|abstract='''Charcotā€“Marieā€“Tooth type 2A disease''' (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in ''MFN2'', a mitochondrial fusion protein. Having previously demonstrated a mitochondrial coupling defect in CMT2A patientsā€™ fibroblasts, we here investigate mitochondrial oxygen consumption and the expression of adenine nucleotide translocase (ANT) and uncoupling proteins from eight other patients with the disease. The mitochondrial uncoupling was associated with a higher respiratory rate, essentially involving complex II proteins. Furthermore, a twofold increase in the expression of ANT led to the reduced efficiency of oxidative phosphorylation in CMT2A cells, suggesting that ''MFN2'' plays a role in controlling ATP/ADP exchanges. Ā 
|keywords=Charcotā€“Marieā€“Tooth, CMT2A, MFN2, Mitochondria, Adenine nucleotide translocase Ā 
|keywords=Charcotā€“Marieā€“Tooth-CMT2A, MFN2, Mitochondria, Adenine nucleotide translocase Ā 
|info=[http://www.ncbi.nlm.nih.gov/pubmed/19618221 PMID: 19618221]
|info=[http://www.ncbi.nlm.nih.gov/pubmed/19618221 PMID: 19618221]
}}
}}

Revision as of 14:40, 17 September 2010

Publications in the MiPMap
Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2009) Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 11: 127-133.

Ā» PMID: 19618221

Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2009) Neurogenetics

Abstract: Charcotā€“Marieā€“Tooth type 2A disease (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in MFN2, a mitochondrial fusion protein. Having previously demonstrated a mitochondrial coupling defect in CMT2A patientsā€™ fibroblasts, we here investigate mitochondrial oxygen consumption and the expression of adenine nucleotide translocase (ANT) and uncoupling proteins from eight other patients with the disease. The mitochondrial uncoupling was associated with a higher respiratory rate, essentially involving complex II proteins. Furthermore, a twofold increase in the expression of ANT led to the reduced efficiency of oxidative phosphorylation in CMT2A cells, suggesting that MFN2 plays a role in controlling ATP/ADP exchanges. ā€¢ Keywords: Charcotā€“Marieā€“Tooth-CMT2A, MFN2, Mitochondria, Adenine nucleotide translocase


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Preparation: Enzyme 

Regulation: Respiration; OXPHOS; ETS Capacity"Respiration; OXPHOS; ETS Capacity" is not in the list (Aerobic glycolysis, ADP, ATP, ATP production, AMP, Calcium, Coupling efficiency;uncoupling, Cyt c, Flux control, Inhibitor, ...) of allowed values for the "Respiration and regulation" property., Coupling; Membrane Potential"Coupling; Membrane Potential" is not in the list (Aerobic glycolysis, ADP, ATP, ATP production, AMP, Calcium, Coupling efficiency;uncoupling, Cyt c, Flux control, Inhibitor, ...) of allowed values for the "Respiration and regulation" property. 


HRR: Oxygraph-2k