RU Moscow Itkis YS

RU Moscow Itkis YS

O2k-Network Lab	Lab. Metab. Disorders Research Centre for Medical Genetics RAMS
Address	Moskvorechie 1,
City	Moscow
State/Prov
Country	Russia
Weblink
Contact	Itkis Yulya S
Team	Krylova Tatiana, Tsygankova Polina
Team previous
Status	O2k 2012-
Oroboros Events	MiPschool 2017, IOC93, IOC80, IOC72, MiPschool 2012, MiP2011, IOC60, MiP2010
Topics	PDH-deficiency, Alpers syndrome, Leigh syndrome, mitochondrial DNA depletion syndromes

O2k-Publications

	Published	Reference
Itkis 2019 Mitochondrion	2019	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.
Krylova 2019 Mitochondrion	2019	Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY (2019) Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy. Mitochondrion 50:139-144.
Krylova 2017 Biomed Khim	2017	Krylova TD, Tsygankova PG, Itkis YS, Sheremet NL, Nevinitsyna TA, Mikhaylova SV, Zakharova EY (2017) High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency. Biomed Khim 63:327-33.
Sheremet 2016 Biochemistry (Moscow)	2016	Sheremet NL, Nevinitsyna TA, Zhorzholadze NV, Ronzina IA, Itkis YS, Krylova TD, Tsygankova PG, Malakhova VA, Zakharova EY, Tokarchuk AV, Panteleeva AA, Karger EM, Lyamzaev KG, Avetisov SE (2016) Previously unclassified mutation of mtDNA m.3472T>C: evidence of pathogenicity in Leber’s hereditary optic neuropathy. Biochemistry (Moscow) BM16-078.

	Published	Reference
Krylova 2017 MiPschool Obergurgl	2017	High-resolution respirometry in diagnostic of mitochondrial complex I deficiency.
Itkis 2010 Abstract IOC60	2010	Itkis YS (2010) Respirometry application in Leigh disease diagnostic and treatment. MiPNet15.10.