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Difference between revisions of "Cassereau 2009 Neurogenetics"

From Bioblast
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{{Labeling
{{Labeling
|instruments=Oxygraph-2k
|injuries=Genetic Defect; Knockdown; Overexpression
|organism=Human
|organism=Human
|tissues=Nervous system
|tissues=Nervous system
|preparations=Intact Cell; Cultured; Primary
|preparations=Intact cells
|couplingstates=OXPHOS
|enzymes=Complex I
|enzymes=Complex I
|injuries=Genetic Defect; Knockdown; Overexpression
|topics=Mitochondrial Biogenesis; Mitochondrial Density
|topics=Mitochondrial Biogenesis; Mitochondrial Density
|couplingstates=OXPHOS
|instruments=Oxygraph-2k
|discipline=Biomedicine
|discipline=Biomedicine
}}
}}

Revision as of 13:39, 7 August 2013

Publications in the MiPMap
Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P (2009) Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 10: 145-150.

Β» PMID: 19089472

Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P (2009) Neurogenetics

Abstract: Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have also been associated with CMT2K, a dominant form of the disease. The three CMT2K patients we studied carried a novel dominant GDAP1 mutation, C240Y (c.719G > A). Mitochondrial respiratory chain complex I activity in fibroblasts from CMT2K patients was 40% lower than in controls, whereas the tubular mitochondria were 33% larger in diameter and the mitochondrial mass was 20% greater. Thus, besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume. β€’ Keywords: GDAP1, Autosomal dominant Charcot-Marie-Tooth disease, CMT2K, Mitochondrial dynamics, Complex I

β€’ O2k-Network Lab: FR_Angers_Douay O


Labels:

Stress:Genetic Defect; Knockdown; Overexpression"Genetic Defect; Knockdown; Overexpression" is not in the list (Cell death, Cryopreservation, Ischemia-reperfusion, Permeability transition, Oxidative stress;RONS, Temperature, Hypoxia, Mitochondrial disease) of allowed values for the "Stress" property.  Organism: Human  Tissue;cell: Nervous system  Preparation: Intact cells  Enzyme: Complex I  Regulation: Mitochondrial Biogenesis; Mitochondrial Density"Mitochondrial Biogenesis; Mitochondrial Density" 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 state: OXPHOS 

HRR: Oxygraph-2k