First Faculty of Medicine, Charles University in Prague Charles University in Prague
Actual issue

We Introduce doc. Tomáš Honzík’s Science Group

85569The research team of Laboratory for the Study of Mitochondrial Disorders of the Department of Paediatric and Adolescent Medicine of the 1st Faculty of Medicine of the Charles University and the General University Hospital in Prague consists of doc. Tomáš Honzík, Professor Jiří Zeman, RNDr. Hana Hansíková, Ing. Markéta Tesařová, and RNDr. Lukáš Stibůrek as well as four molecular biologists, twelve postgraduate students (six of whom are preparing for attestation in paediatric medicine) and four undergraduate students. In the past ten years, eleven of the laboratory’s postgraduate students successfully defended their doctoral thesis and twenty-eight further students defended their master’s or bachelor’s theses.

Aims

This group focuses on research of pathophysiological mechanisms of rare congenital metabolic disorders, mainly mitochondrial diseases and congenital glycosylation defects (CDG). We investigate the functional and biochemical manifestations of disorders of enzymes of oxidative phosphorylation, citrate cycle, and pyruvate metabolism, as well as maturation of mitochondrial energy metabolism and mitochondrial proteases. Our research also involves the bioenergetic metabolism in other rare metabolic disorders and neurodegenerative diseases. In congenital disorders of glycosylation, our team focuses on the introduction of new methods of assessing the degree and quality of glycosylation of proteins and lipids and on search for new types of CDG.

We use purification methods (isolation of mitochondria) as well as enzymological, ultrastructural, and protein methods or molecular-genetic analyses including creation of cellular models of the disorders we study.

Collaboration, grants, and projects

We have a well-established collaboration with the Department of Bioenergetics (RNDr. Tomáš Mráček, MUDr. Josef Houštěk) and the Department of Adipose Tissue (MUDr. Jan Kopecký) of the Institute of Physiology of the Czech Academy of Sciences. We closely collaborate with the National Centre for Medical Genomics (prof. Stanislav Kmoch) and with the group of targeted metabolomics of Professor Viktor Kožich from the Department of Paediatric and Adolescent Medicine. We also have an important partnership with the Department of Neurology of the 1st Faculty of Medicine of the Charles University and the General University Hospital (doc. Jiří Klempíř) and Institute of Animal Physiology and Genetics of the Czech Academy of Sciences (Professor Jan Motlík).

These collaborations are currently supported by five grants of the Czech Health Research Council (AZV ČR) and one project sponsored by the Grant Agency of the Czech Republic.

Our team is a co-investigator in university projects Progres Q26 (chief investigator doc. Martin Vokurka) and Q32 (chief investigator Professor Jan Lebl), UNCE, and Specific University Research (chief investigator Professor Stanislav Kmoch). Thanks to extensive international collaboration with, for instance, the Katholieke Universiteit Leuven, Universitetet i Oslo, Radboud University Medical Centre in Nijmegen, and Helmholtz Zentrum München, our group several times featured in international EU projects. We are currently co-investigators in the E-Rare project. Postgraduate students are supported by two projects of the Grant Agency of the Czech Republic.

Important results

Among other things, our team participated in the discovery and identification of TMEM70 defect as a new factor in the biogenesis of ATPase (Nature Genetics 2008; Archives of Disease in Childhood 2010; Journal of Inherited Metabolic Disease 2015), in the discovery of NgBR defect as a new subtype of syndromes of congenital glycosylation disorders linked to defective dolichol synthesis (Cell Metabolism 2014), or SLC10A7 deficiency as a new subtype of syndromes of congenital glycosylation disorders linked to defective post-Golgi vesicular transport, bone mineralisation, and calcium homeostasis (Human Molecular Genetics 2018).

If interested in further information, write to tomas.honzik@lf1.cuni.cz.

 

Interviews

We Introduce doc. Tomáš Honzík’s Science Group

85569The research team of Laboratory for the Study of Mitochondrial Disorders of the Department of Paediatric and Adolescent Medicine of the 1st Faculty of Medicine of the Charles University and the General University Hospital in Prague consists of doc. Tomáš Honzík, Professor Jiří Zeman, RNDr. Hana Hansíková, Ing. Markéta Tesařová, and RNDr. Lukáš Stibůrek as well as four molecular biologists, twelve postgraduate students (six of whom are preparing for attestation in paediatric medicine) and four undergraduate students. In the past ten years, eleven of the laboratory’s postgraduate students successfully defended their doctoral thesis and twenty-eight further students defended their master’s or bachelor’s theses.

Aims

This group focuses on research of pathophysiological mechanisms of rare congenital metabolic disorders, mainly mitochondrial diseases and congenital glycosylation defects (CDG). We investigate the functional and biochemical manifestations of disorders of enzymes of oxidative phosphorylation, citrate cycle, and pyruvate metabolism, as well as maturation of mitochondrial energy metabolism and mitochondrial proteases. Our research also involves the bioenergetic metabolism in other rare metabolic disorders and neurodegenerative diseases. In congenital disorders of glycosylation, our team focuses on the introduction of new methods of assessing the degree and quality of glycosylation of proteins and lipids and on search for new types of CDG.

We use purification methods (isolation of mitochondria) as well as enzymological, ultrastructural, and protein methods or molecular-genetic analyses including creation of cellular models of the disorders we study.

Collaboration, grants, and projects

We have a well-established collaboration with the Department of Bioenergetics (RNDr. Tomáš Mráček, MUDr. Josef Houštěk) and the Department of Adipose Tissue (MUDr. Jan Kopecký) of the Institute of Physiology of the Czech Academy of Sciences. We closely collaborate with the National Centre for Medical Genomics (prof. Stanislav Kmoch) and with the group of targeted metabolomics of Professor Viktor Kožich from the Department of Paediatric and Adolescent Medicine. We also have an important partnership with the Department of Neurology of the 1st Faculty of Medicine of the Charles University and the General University Hospital (doc. Jiří Klempíř) and Institute of Animal Physiology and Genetics of the Czech Academy of Sciences (Professor Jan Motlík).

These collaborations are currently supported by five grants of the Czech Health Research Council (AZV ČR) and one project sponsored by the Grant Agency of the Czech Republic.

Our team is a co-investigator in university projects Progres Q26 (chief investigator doc. Martin Vokurka) and Q32 (chief investigator Professor Jan Lebl), UNCE, and Specific University Research (chief investigator Professor Stanislav Kmoch). Thanks to extensive international collaboration with, for instance, the Katholieke Universiteit Leuven, Universitetet i Oslo, Radboud University Medical Centre in Nijmegen, and Helmholtz Zentrum München, our group several times featured in international EU projects. We are currently co-investigators in the E-Rare project. Postgraduate students are supported by two projects of the Grant Agency of the Czech Republic.

Important results

Among other things, our team participated in the discovery and identification of TMEM70 defect as a new factor in the biogenesis of ATPase (Nature Genetics 2008; Archives of Disease in Childhood 2010; Journal of Inherited Metabolic Disease 2015), in the discovery of NgBR defect as a new subtype of syndromes of congenital glycosylation disorders linked to defective dolichol synthesis (Cell Metabolism 2014), or SLC10A7 deficiency as a new subtype of syndromes of congenital glycosylation disorders linked to defective post-Golgi vesicular transport, bone mineralisation, and calcium homeostasis (Human Molecular Genetics 2018).

If interested in further information, write to tomas.honzik@lf1.cuni.cz.

 

Subject

We Introduce doc. Tomáš Honzík’s Science Group

85569The research team of Laboratory for the Study of Mitochondrial Disorders of the Department of Paediatric and Adolescent Medicine of the 1st Faculty of Medicine of the Charles University and the General University Hospital in Prague consists of doc. Tomáš Honzík, Professor Jiří Zeman, RNDr. Hana Hansíková, Ing. Markéta Tesařová, and RNDr. Lukáš Stibůrek as well as four molecular biologists, twelve postgraduate students (six of whom are preparing for attestation in paediatric medicine) and four undergraduate students. In the past ten years, eleven of the laboratory’s postgraduate students successfully defended their doctoral thesis and twenty-eight further students defended their master’s or bachelor’s theses.

Aims

This group focuses on research of pathophysiological mechanisms of rare congenital metabolic disorders, mainly mitochondrial diseases and congenital glycosylation defects (CDG). We investigate the functional and biochemical manifestations of disorders of enzymes of oxidative phosphorylation, citrate cycle, and pyruvate metabolism, as well as maturation of mitochondrial energy metabolism and mitochondrial proteases. Our research also involves the bioenergetic metabolism in other rare metabolic disorders and neurodegenerative diseases. In congenital disorders of glycosylation, our team focuses on the introduction of new methods of assessing the degree and quality of glycosylation of proteins and lipids and on search for new types of CDG.

We use purification methods (isolation of mitochondria) as well as enzymological, ultrastructural, and protein methods or molecular-genetic analyses including creation of cellular models of the disorders we study.

Collaboration, grants, and projects

We have a well-established collaboration with the Department of Bioenergetics (RNDr. Tomáš Mráček, MUDr. Josef Houštěk) and the Department of Adipose Tissue (MUDr. Jan Kopecký) of the Institute of Physiology of the Czech Academy of Sciences. We closely collaborate with the National Centre for Medical Genomics (prof. Stanislav Kmoch) and with the group of targeted metabolomics of Professor Viktor Kožich from the Department of Paediatric and Adolescent Medicine. We also have an important partnership with the Department of Neurology of the 1st Faculty of Medicine of the Charles University and the General University Hospital (doc. Jiří Klempíř) and Institute of Animal Physiology and Genetics of the Czech Academy of Sciences (Professor Jan Motlík).

These collaborations are currently supported by five grants of the Czech Health Research Council (AZV ČR) and one project sponsored by the Grant Agency of the Czech Republic.

Our team is a co-investigator in university projects Progres Q26 (chief investigator doc. Martin Vokurka) and Q32 (chief investigator Professor Jan Lebl), UNCE, and Specific University Research (chief investigator Professor Stanislav Kmoch). Thanks to extensive international collaboration with, for instance, the Katholieke Universiteit Leuven, Universitetet i Oslo, Radboud University Medical Centre in Nijmegen, and Helmholtz Zentrum München, our group several times featured in international EU projects. We are currently co-investigators in the E-Rare project. Postgraduate students are supported by two projects of the Grant Agency of the Czech Republic.

Important results

Among other things, our team participated in the discovery and identification of TMEM70 defect as a new factor in the biogenesis of ATPase (Nature Genetics 2008; Archives of Disease in Childhood 2010; Journal of Inherited Metabolic Disease 2015), in the discovery of NgBR defect as a new subtype of syndromes of congenital glycosylation disorders linked to defective dolichol synthesis (Cell Metabolism 2014), or SLC10A7 deficiency as a new subtype of syndromes of congenital glycosylation disorders linked to defective post-Golgi vesicular transport, bone mineralisation, and calcium homeostasis (Human Molecular Genetics 2018).

If interested in further information, write to tomas.honzik@lf1.cuni.cz.

 

What Jednička means to me

We Introduce doc. Tomáš Honzík’s Science Group

85569The research team of Laboratory for the Study of Mitochondrial Disorders of the Department of Paediatric and Adolescent Medicine of the 1st Faculty of Medicine of the Charles University and the General University Hospital in Prague consists of doc. Tomáš Honzík, Professor Jiří Zeman, RNDr. Hana Hansíková, Ing. Markéta Tesařová, and RNDr. Lukáš Stibůrek as well as four molecular biologists, twelve postgraduate students (six of whom are preparing for attestation in paediatric medicine) and four undergraduate students. In the past ten years, eleven of the laboratory’s postgraduate students successfully defended their doctoral thesis and twenty-eight further students defended their master’s or bachelor’s theses.

Aims

This group focuses on research of pathophysiological mechanisms of rare congenital metabolic disorders, mainly mitochondrial diseases and congenital glycosylation defects (CDG). We investigate the functional and biochemical manifestations of disorders of enzymes of oxidative phosphorylation, citrate cycle, and pyruvate metabolism, as well as maturation of mitochondrial energy metabolism and mitochondrial proteases. Our research also involves the bioenergetic metabolism in other rare metabolic disorders and neurodegenerative diseases. In congenital disorders of glycosylation, our team focuses on the introduction of new methods of assessing the degree and quality of glycosylation of proteins and lipids and on search for new types of CDG.

We use purification methods (isolation of mitochondria) as well as enzymological, ultrastructural, and protein methods or molecular-genetic analyses including creation of cellular models of the disorders we study.

Collaboration, grants, and projects

We have a well-established collaboration with the Department of Bioenergetics (RNDr. Tomáš Mráček, MUDr. Josef Houštěk) and the Department of Adipose Tissue (MUDr. Jan Kopecký) of the Institute of Physiology of the Czech Academy of Sciences. We closely collaborate with the National Centre for Medical Genomics (prof. Stanislav Kmoch) and with the group of targeted metabolomics of Professor Viktor Kožich from the Department of Paediatric and Adolescent Medicine. We also have an important partnership with the Department of Neurology of the 1st Faculty of Medicine of the Charles University and the General University Hospital (doc. Jiří Klempíř) and Institute of Animal Physiology and Genetics of the Czech Academy of Sciences (Professor Jan Motlík).

These collaborations are currently supported by five grants of the Czech Health Research Council (AZV ČR) and one project sponsored by the Grant Agency of the Czech Republic.

Our team is a co-investigator in university projects Progres Q26 (chief investigator doc. Martin Vokurka) and Q32 (chief investigator Professor Jan Lebl), UNCE, and Specific University Research (chief investigator Professor Stanislav Kmoch). Thanks to extensive international collaboration with, for instance, the Katholieke Universiteit Leuven, Universitetet i Oslo, Radboud University Medical Centre in Nijmegen, and Helmholtz Zentrum München, our group several times featured in international EU projects. We are currently co-investigators in the E-Rare project. Postgraduate students are supported by two projects of the Grant Agency of the Czech Republic.

Important results

Among other things, our team participated in the discovery and identification of TMEM70 defect as a new factor in the biogenesis of ATPase (Nature Genetics 2008; Archives of Disease in Childhood 2010; Journal of Inherited Metabolic Disease 2015), in the discovery of NgBR defect as a new subtype of syndromes of congenital glycosylation disorders linked to defective dolichol synthesis (Cell Metabolism 2014), or SLC10A7 deficiency as a new subtype of syndromes of congenital glycosylation disorders linked to defective post-Golgi vesicular transport, bone mineralisation, and calcium homeostasis (Human Molecular Genetics 2018).

If interested in further information, write to tomas.honzik@lf1.cuni.cz.

 

Jednička in science

We Introduce doc. Tomáš Honzík’s Science Group

85569The research team of Laboratory for the Study of Mitochondrial Disorders of the Department of Paediatric and Adolescent Medicine of the 1st Faculty of Medicine of the Charles University and the General University Hospital in Prague consists of doc. Tomáš Honzík, Professor Jiří Zeman, RNDr. Hana Hansíková, Ing. Markéta Tesařová, and RNDr. Lukáš Stibůrek as well as four molecular biologists, twelve postgraduate students (six of whom are preparing for attestation in paediatric medicine) and four undergraduate students. In the past ten years, eleven of the laboratory’s postgraduate students successfully defended their doctoral thesis and twenty-eight further students defended their master’s or bachelor’s theses.

Aims

This group focuses on research of pathophysiological mechanisms of rare congenital metabolic disorders, mainly mitochondrial diseases and congenital glycosylation defects (CDG). We investigate the functional and biochemical manifestations of disorders of enzymes of oxidative phosphorylation, citrate cycle, and pyruvate metabolism, as well as maturation of mitochondrial energy metabolism and mitochondrial proteases. Our research also involves the bioenergetic metabolism in other rare metabolic disorders and neurodegenerative diseases. In congenital disorders of glycosylation, our team focuses on the introduction of new methods of assessing the degree and quality of glycosylation of proteins and lipids and on search for new types of CDG.

We use purification methods (isolation of mitochondria) as well as enzymological, ultrastructural, and protein methods or molecular-genetic analyses including creation of cellular models of the disorders we study.

Collaboration, grants, and projects

We have a well-established collaboration with the Department of Bioenergetics (RNDr. Tomáš Mráček, MUDr. Josef Houštěk) and the Department of Adipose Tissue (MUDr. Jan Kopecký) of the Institute of Physiology of the Czech Academy of Sciences. We closely collaborate with the National Centre for Medical Genomics (prof. Stanislav Kmoch) and with the group of targeted metabolomics of Professor Viktor Kožich from the Department of Paediatric and Adolescent Medicine. We also have an important partnership with the Department of Neurology of the 1st Faculty of Medicine of the Charles University and the General University Hospital (doc. Jiří Klempíř) and Institute of Animal Physiology and Genetics of the Czech Academy of Sciences (Professor Jan Motlík).

These collaborations are currently supported by five grants of the Czech Health Research Council (AZV ČR) and one project sponsored by the Grant Agency of the Czech Republic.

Our team is a co-investigator in university projects Progres Q26 (chief investigator doc. Martin Vokurka) and Q32 (chief investigator Professor Jan Lebl), UNCE, and Specific University Research (chief investigator Professor Stanislav Kmoch). Thanks to extensive international collaboration with, for instance, the Katholieke Universiteit Leuven, Universitetet i Oslo, Radboud University Medical Centre in Nijmegen, and Helmholtz Zentrum München, our group several times featured in international EU projects. We are currently co-investigators in the E-Rare project. Postgraduate students are supported by two projects of the Grant Agency of the Czech Republic.

Important results

Among other things, our team participated in the discovery and identification of TMEM70 defect as a new factor in the biogenesis of ATPase (Nature Genetics 2008; Archives of Disease in Childhood 2010; Journal of Inherited Metabolic Disease 2015), in the discovery of NgBR defect as a new subtype of syndromes of congenital glycosylation disorders linked to defective dolichol synthesis (Cell Metabolism 2014), or SLC10A7 deficiency as a new subtype of syndromes of congenital glycosylation disorders linked to defective post-Golgi vesicular transport, bone mineralisation, and calcium homeostasis (Human Molecular Genetics 2018).

If interested in further information, write to tomas.honzik@lf1.cuni.cz.