Richard J Rodenburg

Affiliations

Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands.

Publications (19)

Effect of neuropsychiatric medications on mitochondrial function: For better or for worse.

Neuroscience and biobehavioral reviews

Avec: Tim L Emmerzaal , Gerben Nijkamp , Marin Veldic , Shamima Rahman , Ana Cristina Andreazza , Eva Morava , Richard J Rodenburg , Tamas Kozicz

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

Metabolomics : Official journal of the Metabolomic Society

Avec: Karien Esterhuizen , J Zander Lindeque , Shayne Mason , Francois H van der Westhuizen , Richard J Rodenburg , Paul de Laat , Jan A M Smeitink , Mirian C H Janssen , Roan Louw

Long-term treated HIV infection is associated with platelet mitochondrial dysfunction.

Scientific reports

Avec: Wouter A van der Heijden , Lisa van de Wijer , Martin Jaeger , Karin Grintjes , Mihai G Netea , Rolf T Urbanus , Reinout van Crevel , Lambertus P van den Heuvel , Maaike Brink , Richard J Rodenburg , Philip G de Groot , Andre J van der Ven , Quirijn de Mast

Tivozanib for the treatment of renal cell carcinoma: patient selection and perspectives.

International journal of nephrology and renovascular disease

Avec: R J Rodenburg , Falm Eskens

Soluble adenylyl cyclase regulates the cytosolic NADH/NAD

Biochimica et biophysica acta. Bioenergetics

Avec: Jung-Chin Chang , Simei Go , Eduardo H Gilglioni , Suzanne Duijst , Daan M Panneman , Richard J Rodenburg , Hang Lam Li , Hsu-Li Huang , Lonny R Levin , Jochen Buck , Arthur J Verhoeven , Ronald P J Oude Elferink

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Clinical genetics

Avec: Daan M Panneman , Saskia B Wortmann , Charlotte A Haaxma , Peter M van Hasselt , Nicole I Wolf , Yvonne Hendriks , Benno Küsters , Sjenet van Emst-de Vries , Els van de Westerlo , Werner J H Koopman , Liesbeth Wintjes , Frans van den Brandt , Maaike de Vries , Dirk J Lefeber , Jan A M Smeitink , Richard J Rodenburg

NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4

Biochimica et biophysica acta. Bioenergetics

Avec: Merel J W Adjobo-Hermans , Ria de Haas , Peter H G M Willems , Aleksandra Wojtala , Sjenet E van Emst-de Vries , Jori A Wagenaars , Mariel van den Brand , Richard J Rodenburg , Jan A M Smeitink , Leo G Nijtmans , Leonid A Sazanov , Mariusz R Wieckowski , Werner J H Koopman

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.

The Journal of clinical investigation

Avec: Jonathan Shintaku , Wolfgang M Pernice , Wafaa Eyaid , Jeevan B Gc , Zuben P Brown , Marti Juanola-Falgarona , Javier Torres-Torronteras , Ewen W Sommerville , Debby Mei Hellebrekers , Emma L Blakely , Alan Donaldson , Ingrid van de Laar , Cheng-Shiun Leu , Ramon Marti , Joachim Frank , Kurenai Tanji , David A Koolen , Richard J Rodenburg , Patrick F Chinnery , H J M Smeets , Gráinne S Gorman , Penelope E Bonnen , Robert W Taylor , Michio Hirano

The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts.

Free radical biology & medicine

Avec: Elianne P Bulthuis , Claudia Einer , Felix Distelmaier , Laszlo Groh , Sjenet E van Emst-de Vries , Els van de Westerlo , Melissa van de Wal , Jori Wagenaars , Richard J Rodenburg , Jan A M Smeitink , Niels P Riksen , Peter H G M Willems , Merel J W Adjobo-Hermans , Hans Zischka , Werner J H Koopman

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.

Orphanet journal of rare diseases

Avec: Firas Abu Hanna , Yoav Zehavi , Eran Cohen-Barak , Morad Khayat , Nasim Warwar , Roni Shreter , Richard J Rodenburg , Ronen Spiegel

Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

Movement disorders : official journal of the Movement Disorder Society

Avec: Serena Galosi , Cecilia Mancini , Anna Commone , Paolo Calligari , Viviana Caputo , Francesca Nardecchia , Claudia Carducci , Lambertus P van den Heuvel , Simone Pizzi , Alessandro Bruselles , Marcello Niceta , Simone Martinelli , Richard J Rodenburg , Marco Tartaglia , Vincenzo Leuzzi

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Elise A Ferreira , Annemarijne R J Veenvliet , Udo F H Engelke , Leo A J Kluijtmans , Marleen C D G Huigen , Brechtje Hoegen , Lonneke de Boer , Maaike C de Vries , Bregje W van Bon , Erika Leenders , Elisabeth A M Cornelissen , Charlotte A Haaxma , Jolanda H Schieving , M Estela Rubio-Gozalbo , Irene M L W Körver-Keularts , Lara M Marten , Susann Diegmann , Jeroen Mourmans , Alexander J M Rennings , Clara D M van Karnebeek , Richard J Rodenburg , Karlien L M Coene

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Frontiers in genetics

Avec: Sarah Foriel , G Herma Renkema , Yvonne Lasarzewski , Job Berkhout , Richard J Rodenburg , Jan A M Smeitink , Julien Beyrath , Annette Schenck

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Journal of the American Society of Nephrology : JASN

Avec: Daan Viering , Karl P Schlingmann , Marguerite Hureaux , Tom Nijenhuis , Andrew Mallett , Melanie M Y Chan , André van Beek , Albertien M van Eerde , Jean-Marie Coulibaly , Marion Vallet , Stéphane Decramer , Solenne Pelletier , Günter Klaus , Martin Kömhoff , Rolf Beetz , Chirag Patel , Mohan Shenoy , Eric J Steenbergen , Glenn Anderson , Ernie M H F Bongers , Carsten Bergmann , Daan Panneman , Richard J Rodenburg , Robert Kleta , Pascal Houillier , Martin Konrad , Rosa Vargas-Poussou , Nine V A M Knoers , Detlef Bockenhauer , Jeroen H F de Baaij , Auteur inconnu

Mutations in

Genes

Avec: Cansu de Muijnck , Jacoline B Ten Brink , Hugoline G de Haan , Richard J Rodenburg , Nicole I Wolf , Arthur A Bergen , Camiel J F Boon , Maria M van Genderen

Leber's hereditary optic neuropathy like disease in

American journal of ophthalmology case reports

Avec: Cansu de Muijnck , Mary J van Schooneveld , Astrid S Plomp , Richard J Rodenburg , Maria M van Genderen , Camiel J F Boon

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice.

Translational psychiatry

Avec: Tim L Emmerzaal , Graeme Preston , Bram Geenen , Vivienne Verweij , Maximilian Wiesmann , Elisavet Vasileiou , Femke Grüter , Corné de Groot , Jeroen Schoorl , Renske de Veer , Monica Roelofs , Martijn Arts , Yara Hendriksen , Eva Klimars , Taraka R Donti , Brett H Graham , Eva Morava , Richard J Rodenburg , Tamas Kozicz

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

European journal of medical genetics

Avec: Karit Reinson , Reka Kovacs-Nagy , Eve Õiglane-Shlik , Sander Pajusalu , Margit Nõukas , Liesbeth T Wintjes , Frans C A van den Brandt , Maaike Brink , Till Acker , Uwe Ahting , Andreas Hahn , Anne Schänzer , Tobias B Haack , Richard J Rodenburg , Katrin Õunap

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

International journal of molecular sciences

Avec: Sofia Barbosa-Gouveia , Maria E Vázquez-Mosquera , Emiliano Gonzalez-Vioque , Álvaro Hermida-Ameijeiras , Laura L Valverde , Judith Armstrong-Moron , Maria Del Carmen Fons-Estupiña , Liesbeth T Wintjes , Antonia Kappen , Richard J Rodenburg , Maria L Couce

Réseau de co-auteurs

Jan A M Smeitink 5 collaborations

Werner J H Koopman 3 collaborations

Tim L Emmerzaal 2 collaborations

Eva Morava 2 collaborations

Tamas Kozicz 2 collaborations

Lambertus P van den Heuvel 2 collaborations

Maaike Brink 2 collaborations

Daan M Panneman 2 collaborations

Charlotte A Haaxma 2 collaborations

Nicole I Wolf 2 collaborations

Els van de Westerlo 2 collaborations

Merel J W Adjobo-Hermans 2 collaborations

Peter H G M Willems 2 collaborations

Sjenet E van Emst-de Vries 2 collaborations

Cansu de Muijnck 2 collaborations

Camiel J F Boon 2 collaborations

Maria M van Genderen 2 collaborations

Liesbeth T Wintjes 2 collaborations

Gerben Nijkamp 1 collaboration

Marin Veldic 1 collaboration

Shamima Rahman 1 collaboration

Ana Cristina Andreazza 1 collaboration

Karien Esterhuizen 1 collaboration

J Zander Lindeque 1 collaboration

Shayne Mason 1 collaboration

Francois H van der Westhuizen 1 collaboration

Paul de Laat 1 collaboration

Mirian C H Janssen 1 collaboration

Roan Louw 1 collaboration

Wouter A van der Heijden 1 collaboration

Lisa van de Wijer 1 collaboration

Martin Jaeger 1 collaboration

Karin Grintjes 1 collaboration

Mihai G Netea 1 collaboration

Rolf T Urbanus 1 collaboration

Reinout van Crevel 1 collaboration

Philip G de Groot 1 collaboration

Andre J van der Ven 1 collaboration

Quirijn de Mast 1 collaboration

R J Rodenburg 1 collaboration

Falm Eskens 1 collaboration

Jung-Chin Chang 1 collaboration

Simei Go 1 collaboration

Eduardo H Gilglioni 1 collaboration

Suzanne Duijst 1 collaboration

Hang Lam Li 1 collaboration

Hsu-Li Huang 1 collaboration

Lonny R Levin 1 collaboration

Jochen Buck 1 collaboration

Arthur J Verhoeven 1 collaboration

Ronald P J Oude Elferink 1 collaboration

Saskia B Wortmann 1 collaboration

Peter M van Hasselt 1 collaboration

Yvonne Hendriks 1 collaboration

Benno Küsters 1 collaboration

Sjenet van Emst-de Vries 1 collaboration

Liesbeth Wintjes 1 collaboration

Frans van den Brandt 1 collaboration

Maaike de Vries 1 collaboration

Dirk J Lefeber 1 collaboration

Ria de Haas 1 collaboration

Aleksandra Wojtala 1 collaboration

Jori A Wagenaars 1 collaboration

Mariel van den Brand 1 collaboration

Leo G Nijtmans 1 collaboration

Leonid A Sazanov 1 collaboration

Mariusz R Wieckowski 1 collaboration

Jonathan Shintaku 1 collaboration

Wolfgang M Pernice 1 collaboration

Wafaa Eyaid 1 collaboration

Jeevan B Gc 1 collaboration

Zuben P Brown 1 collaboration

Marti Juanola-Falgarona 1 collaboration

Javier Torres-Torronteras 1 collaboration

Ewen W Sommerville 1 collaboration

Debby Mei Hellebrekers 1 collaboration

Emma L Blakely 1 collaboration

Alan Donaldson 1 collaboration

Ingrid van de Laar 1 collaboration

Cheng-Shiun Leu 1 collaboration

Ramon Marti 1 collaboration

Joachim Frank 1 collaboration

Kurenai Tanji 1 collaboration

David A Koolen 1 collaboration

Patrick F Chinnery 1 collaboration

H J M Smeets 1 collaboration

Gráinne S Gorman 1 collaboration

Penelope E Bonnen 1 collaboration

Robert W Taylor 1 collaboration

Michio Hirano 1 collaboration

Elianne P Bulthuis 1 collaboration

Claudia Einer 1 collaboration

Felix Distelmaier 1 collaboration

Laszlo Groh 1 collaboration

Melissa van de Wal 1 collaboration

Jori Wagenaars 1 collaboration

Niels P Riksen 1 collaboration

Hans Zischka 1 collaboration

Firas Abu Hanna 1 collaboration

Yoav Zehavi 1 collaboration

Eran Cohen-Barak 1 collaboration

Morad Khayat 1 collaboration

Nasim Warwar 1 collaboration

Roni Shreter 1 collaboration

Ronen Spiegel 1 collaboration

Serena Galosi 1 collaboration

Cecilia Mancini 1 collaboration

Anna Commone 1 collaboration

Paolo Calligari 1 collaboration

Viviana Caputo 1 collaboration

Francesca Nardecchia 1 collaboration

Claudia Carducci 1 collaboration

Simone Pizzi 1 collaboration

Alessandro Bruselles 1 collaboration

Marcello Niceta 1 collaboration

Simone Martinelli 1 collaboration

Marco Tartaglia 1 collaboration

Vincenzo Leuzzi 1 collaboration

Elise A Ferreira 1 collaboration

Annemarijne R J Veenvliet 1 collaboration

Udo F H Engelke 1 collaboration

Leo A J Kluijtmans 1 collaboration

Marleen C D G Huigen 1 collaboration

Brechtje Hoegen 1 collaboration

Lonneke de Boer 1 collaboration

Maaike C de Vries 1 collaboration

Bregje W van Bon 1 collaboration

Erika Leenders 1 collaboration

Elisabeth A M Cornelissen 1 collaboration

Jolanda H Schieving 1 collaboration

M Estela Rubio-Gozalbo 1 collaboration

Irene M L W Körver-Keularts 1 collaboration

Lara M Marten 1 collaboration

Susann Diegmann 1 collaboration

Jeroen Mourmans 1 collaboration

Alexander J M Rennings 1 collaboration

Clara D M van Karnebeek 1 collaboration

Karlien L M Coene 1 collaboration

Sarah Foriel 1 collaboration

G Herma Renkema 1 collaboration

Yvonne Lasarzewski 1 collaboration

Job Berkhout 1 collaboration

Julien Beyrath 1 collaboration

Annette Schenck 1 collaboration

Daan Viering 1 collaboration

Karl P Schlingmann 1 collaboration

Marguerite Hureaux 1 collaboration

Tom Nijenhuis 1 collaboration

Andrew Mallett 1 collaboration

Melanie M Y Chan 1 collaboration

André van Beek 1 collaboration

Albertien M van Eerde 1 collaboration

Jean-Marie Coulibaly 1 collaboration

Marion Vallet 1 collaboration

Stéphane Decramer 1 collaboration

Solenne Pelletier 1 collaboration

Günter Klaus 1 collaboration

Martin Kömhoff 1 collaboration

Rolf Beetz 1 collaboration

Chirag Patel 1 collaboration

Mohan Shenoy 1 collaboration

Eric J Steenbergen 1 collaboration

Glenn Anderson 1 collaboration

Ernie M H F Bongers 1 collaboration

Carsten Bergmann 1 collaboration

Daan Panneman 1 collaboration

Robert Kleta 1 collaboration

Pascal Houillier 1 collaboration

Martin Konrad 1 collaboration

Rosa Vargas-Poussou 1 collaboration

Nine V A M Knoers 1 collaboration

Detlef Bockenhauer 1 collaboration

Jeroen H F de Baaij 1 collaboration

None None 1 collaboration

Jacoline B Ten Brink 1 collaboration

Hugoline G de Haan 1 collaboration

Arthur A Bergen 1 collaboration

Mary J van Schooneveld 1 collaboration

Astrid S Plomp 1 collaboration

Graeme Preston 1 collaboration

Bram Geenen 1 collaboration

Vivienne Verweij 1 collaboration

Maximilian Wiesmann 1 collaboration

Elisavet Vasileiou 1 collaboration

Femke Grüter 1 collaboration

Corné de Groot 1 collaboration

Jeroen Schoorl 1 collaboration

Renske de Veer 1 collaboration

Monica Roelofs 1 collaboration

Martijn Arts 1 collaboration

Yara Hendriksen 1 collaboration

Eva Klimars 1 collaboration

Taraka R Donti 1 collaboration

Brett H Graham 1 collaboration

Karit Reinson 1 collaboration

Reka Kovacs-Nagy 1 collaboration

Eve Õiglane-Shlik 1 collaboration

Sander Pajusalu 1 collaboration

Margit Nõukas 1 collaboration

Frans C A van den Brandt 1 collaboration

Till Acker 1 collaboration

Uwe Ahting 1 collaboration

Andreas Hahn 1 collaboration

Anne Schänzer 1 collaboration

Tobias B Haack 1 collaboration

Katrin Õunap 1 collaboration

Sofia Barbosa-Gouveia 1 collaboration

Maria E Vázquez-Mosquera 1 collaboration

Emiliano Gonzalez-Vioque 1 collaboration

Álvaro Hermida-Ameijeiras 1 collaboration

Laura L Valverde 1 collaboration

Judith Armstrong-Moron 1 collaboration

Maria Del Carmen Fons-Estupiña 1 collaboration

Antonia Kappen 1 collaboration

Maria L Couce 1 collaboration