Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Johan L K Van Hove"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Aim We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non-ketotic hyperglycinemia (NKH) and to explore associations between the behavioral phenotype and age, sex, plasma
Externí odkaz:
https://doaj.org/article/8a4a8a543e5c4d9e9376f9ea36389cc3
Autor:
Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)
Abstract Disorders of mitochondrial function are a collectively common group of genetic diseases in which deficits in core mitochondrial translation machinery, including aminoacyl tRNA synthetases, are key players. Biallelic variants in the CARS2 gen
Externí odkaz:
https://doaj.org/article/4f5342b87e7f4e589989796569d7e800
Autor:
Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Nonketotic hyperglycinemia (NKH) is a severe neurometabolic disorder characterized by increased glycine levels. Current glycine reduction therapy uses high doses of sodium benzoate. The ketogenic diet (KD) may represent an alterna
Externí odkaz:
https://doaj.org/article/9af194b7d7c7450f938a5780e5345a8f
Autor:
Enrique Balderas, David R. Eberhardt, Sandra Lee, John M. Pleinis, Salah Sommakia, Anthony M. Balynas, Xue Yin, Mitchell C. Parker, Colin T. Maguire, Scott Cho, Marta W. Szulik, Anna Bakhtina, Ryan D. Bia, Marisa W. Friederich, Timothy M. Locke, Johan L. K. Van Hove, Stavros G. Drakos, Yasemin Sancak, Martin Tristani-Firouzi, Sarah Franklin, Aylin R. Rodan, Dipayan Chaudhuri
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Mitochondrial complex I deficiency is frequent in congenital, neurologic and cardiovascular disease. Here the authors demonstrate that Complex I stimulates the turnover of a mitochondrial calcium channel, which becomes stabilized during Complex I def
Externí odkaz:
https://doaj.org/article/c2ef9f77a9ef4d22aad9d8b4d27239a7
Autor:
Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/dd79b4bca7bd44dcb0e04befaa5c0737
Autor:
Enrique Balderas, David R. Eberhardt, Sandra Lee, John M. Pleinis, Salah Sommakia, Anthony M. Balynas, Xue Yin, Mitchell C. Parker, Colin T. Maguire, Scott Cho, Marta W. Szulik, Anna Bakhtina, Ryan D. Bia, Marisa W. Friederich, Timothy M. Locke, Johan L. K. Van Hove, Stavros G. Drakos, Yasemin Sancak, Martin Tristani-Firouzi, Sarah Franklin, Aylin R. Rodan, Dipayan Chaudhuri
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/375509dbb57e4c128813f2aea63a1296
Autor:
Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Abstract Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidatio
Externí odkaz:
https://doaj.org/article/5e2c03b6081043e5add48aba3812d059
Autor:
Laura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, Joseph Farris, Elsebet Østergaard, Konstantinos Tsiakas, Maja Hempel, Cecile Aquaviva-Bourdain, Stefanos Koutsoukos, Nicholas V Stence, Martina Magistrati, Elaine B Spector, Kathryn Kronquist, Mette Christensen, Helena G Karstensen, René G Feichtinger, Melanie T Achleitner, J Lawrence Merritt II, Belén Pérez, Magdalena Ugarte, Stephanie Grünewald, Anthony R Riela, Natalia Julve, Jean-Baptiste Arnoux, Kasturi Haldar, Claudia Donnini, René Santer, Allan M Lund, Johannes A Mayr, Pilar Rodriguez-Pombo, Johan L K Van Hove
Publikováno v:
Human molecular genetics.
Maintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase, and in the one-ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43d5241355ccacf3cf24c2450c5b71c
https://pubmed.ncbi.nlm.nih.gov/36190515
https://pubmed.ncbi.nlm.nih.gov/36190515
Autor:
Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W. Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli‐Dipple, Cécile Voisset, Melissa A. Walker, Lauren C. Briere, Amélie Bourhis, Marc Blondel, Charles LeDuc, Jacob Hagen, Cathleen Cooper, Colleen Muraresku, Claude Ferec, Armelle Garenne, Servane Lelez‐Soquet, Cassandra A. Rogers, Yufeng Shen, Dana K. Strode, Peyman Bizargity, Alejandro Iglesias, Amy Goldstein, Frances A. High, Undiagnosed Diseases Network, David A. Sweetser, Rebecca Ganetzky, Johan L. K. Van Hove, Vincent Procaccio, Cedric Le Marechal, Wendy K. Chung
Publikováno v:
Journal of inherited metabolic disease. 45(5)
Mitochondrial complex V plays an important role in oxidative phosphorylation by catalyzing the generation of ATP. Most complex V subunits are nuclear encoded and not yet associated with recognized Mendelian disorders. Using exome sequencing, we ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c49cf2c2f3e1aad721af9beecf96b54e
https://pubmed.ncbi.nlm.nih.gov/35621276
https://pubmed.ncbi.nlm.nih.gov/35621276
Autor:
Michael A. Swanson, Kristen Miller, Sarah P. Young, Suhong Tong, Lina Ghaloul‐Gonzalez, Juanita Neira‐Fresneda, Lisa Schlichting, Cheryl Peck, Linda Gabel, Marisa W. Friederich, Johan L. K. Van Hove
Publikováno v:
Journal of inherited metabolic disease. 45(4)
Nonketotic hyperglycinemia (NKH) is caused by deficient glycine cleavage enzyme activity and characterized by elevated brain glycine. Metabolism of glycine is connected enzymatically to serine through serine hydroxymethyltransferase and shares transp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d7fcc6c25d786a341250868f42701e
https://pubmed.ncbi.nlm.nih.gov/35357708
https://pubmed.ncbi.nlm.nih.gov/35357708