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Difference between revisions of "Itkis 2019 Mitochondrion"

From Bioblast
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{{Publication
{{Publication
|title=Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. Mitochondrion [Epub ahead of print].
|title=Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. Mitochondrion 47:10-17.
|info=[https://www.ncbi.nlm.nih.gov/pubmed/31009750Β  PMID: 31009750]
|info=[https://www.ncbi.nlm.nih.gov/pubmed/31009750Β  PMID: 31009750]
|authors=Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY
|authors=Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY
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|organism=Human
|organism=Human
|tissues=Fibroblast
|tissues=Fibroblast
|preparations=Intact cells, Permeabilized cells
|preparations=Permeabilized cells, Intact cells
|couplingstates=LEAK, ROUTINE, OXPHOS, ET
|couplingstates=LEAK, ROUTINE, OXPHOS, ET
|pathways=N, CIV, NS, ROX
|pathways=N, CIV, NS, ROX

Latest revision as of 11:14, 9 July 2019

Publications in the MiPMap
Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. Mitochondrion 47:10-17.

Β» PMID: 31009750

Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) Mitochondrion

Abstract: We present a 14-year-old girl with loss of motor functions, tetraplegia, epilepsy and nystagmus, caused by a novel heteroplasmic m.641A>T transition in an evolutionary conserved region of mitochondrial genome, affecting the aminoacyl stem of mitochondrial tRNA-Phe. In silico prediction, respirometry, Western blot and enzymatic analyses in skin fibroblasts support the pathogenicity of the m.641A>T substitution.

This is the 18th MT-TF point mutation associated with a mitochondrial disorder. The onset and the severity of the disease, however, is unique in this case and broadens the clinical picture related to mutations of mitochondrial tRNA-Phe.

Copyright Β© 2018. Published by Elsevier B.V. β€’ Keywords: Encephalopathy, Epilepsy, MT-TF, Mitochondrial disease, Transfer RNA(Phe), mtDNA β€’ Bioblast editor: Plangger M β€’ O2k-Network Lab: RU Moscow Itkis YS


Labels: MiParea: Respiration, mtDNA;mt-genetics, Patients 

Stress:Mitochondrial disease  Organism: Human  Tissue;cell: Fibroblast  Preparation: Permeabilized cells, Intact cells 


Coupling state: LEAK, ROUTINE, OXPHOS, ET  Pathway: N, CIV, NS, ROX  HRR: Oxygraph-2k 

Labels, 2019-04