Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Ody C M Sibon"'
Autor:
Jan J Vonk, Wondwossen M Yeshaw, Francesco Pinto, Anita I E Faber, Liza L Lahaye, Bart Kanon, Marianne van der Zwaag, Antonio Velayos-Baeza, Raimundo Freire, Sven C van IJzendoorn, Nicola A Grzeschik, Ody C M Sibon
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0170106 (2017)
Chorea-Acanthocytosis is a rare, neurodegenerative disorder characterized by progressive loss of locomotor and cognitive function. It is caused by loss of function mutations in the Vacuolar Protein Sorting 13A (VPS13A) gene, which is conserved from y
Externí odkaz:
https://doaj.org/article/5fc263d2c7534130bc21e94d7fab48dd
Autor:
Arcangela Iuso, Ody C M Sibon, Matteo Gorza, Katharina Heim, Cristina Organisti, Thomas Meitinger, Holger Prokisch
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e89439 (2014)
Mutations in the orphan gene C19orf12 were identified as a genetic cause in a subgroup of patients with NBIA, a neurodegenerative disorder characterized by deposits of iron in the basal ganglia. C19orf12 was shown to be localized in mitochondria, how
Externí odkaz:
https://doaj.org/article/2f0bdc6258b34dfcae85d567fbd8ab93
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43145 (2012)
Coenzyme A (CoA) is a pantothenic acid-derived metabolite essential for many fundamental cellular processes including energy, lipid and amino acid metabolism. Pantothenate kinase (PANK), which catalyses the first step in the conversion of pantothenic
Externí odkaz:
https://doaj.org/article/2100dbd432264797b0b342dcabdfa2b0
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e1000938 (2010)
BACKGROUND: RNAi technology is widely used to downregulate specific gene products. Investigating the phenotype induced by downregulation of gene products provides essential information about the function of the specific gene of interest. When RNAi is
Externí odkaz:
https://doaj.org/article/e91aed164d0a4272926585ddc8f8ec30
Autor:
María A Rujano, Floris Bosveld, Florian A Salomons, Freark Dijk, Maria A W H van Waarde, Johannes J L van der Want, Rob A I de Vos, Ewout R Brunt, Ody C M Sibon, Harm H Kampinga
Publikováno v:
PLoS Biology, Vol 4, Iss 12, p e417 (2006)
Disease-associated misfolded proteins or proteins damaged due to cellular stress are generally disposed via the cellular protein quality-control system. However, under saturating conditions, misfolded proteins will aggregate. In higher eukaryotes, th
Externí odkaz:
https://doaj.org/article/c11237ebff5044549960751efc67a8a5
Publikováno v:
Molecular Genetics and Metabolism. 137:283-291
Studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) metabolism and the limits of our current knowledge about disease pathogenesis. Her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236b8d1499bd0045e2c737ad5dd88811
https://doi.org/10.1016/j.ymgme.2022.09.011
https://doi.org/10.1016/j.ymgme.2022.09.011
Autor:
Ody C. M. Sibon, Erick Strauss, Konrad J Mostert, Marianne van der Zwaag, Nandini Sharma, Roxine Staats, Ruchi Anand, Lizbé Koekemoer
Publikováno v:
ACS chemical biology, 16(11), 2401-2414. AMER CHEMICAL SOC
ACS Chem Biol
ACS Chem Biol
The pantothenate analogue hopantenate (HoPan) is widely used as a modulator of coenzyme A (CoA) levels in cell biology and disease models-especially for pantothenate kinase associated neurodegeneration (PKAN), a genetic disease rooted in impaired CoA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b533397b71231072adafd0a72917483
https://doi.org/10.1021/acschembio.1c00535
https://doi.org/10.1021/acschembio.1c00535
Autor:
Marit Wiersma, Roelien A. M. Meijering, Xiao‐Yan Qi, Deli Zhang, Tao Liu, Femke Hoogstra‐Berends, Ody C. M. Sibon, Robert H. Henning, Stanley Nattel, Bianca J. J. M. Brundel
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 6, Iss 10 (2017)
BackgroundDerailment of proteostasis, the homeostasis of production, function, and breakdown of proteins, contributes importantly to the self‐perpetuating nature of atrial fibrillation (AF), the most common heart rhythm disorder in humans. Autophag
Externí odkaz:
https://doaj.org/article/dfa7a618d78241b4a8ef03cf8bfc2531
Autor:
Sjoukje S Polet, Tom J. de Koning, Jenke A Gorter, Roald A. Lambrechts, Marina. A. J. de Koning-Tijssen, Ody C. M. Sibon, Lisa van Ninhuys, Nicola A. Grzeschik, Alejandra Hernandez-Pichardo
Publikováno v:
Neuroscience, 423, 1-11. PERGAMON-ELSEVIER SCIENCE LTD
Progressive myoclonic epilepsies (PMEs) comprise a group of rare disorders of different genetic aetiologies, leading to childhood-onset myoclonus, myoclonic seizures and subsequent neurological decline. One of the genetic causes for PME, a mutation i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6105659111e9609c65789a097f9a525
https://hdl.handle.net/11370/9ead118c-2c01-40a7-bdc2-0958c6ea2fce
https://hdl.handle.net/11370/9ead118c-2c01-40a7-bdc2-0958c6ea2fce
Publikováno v:
Biochimica et Biophysica Acta - Molecular Cell Research. 1868(4)
Coenzyme A (CoA) is a key molecule in cellular metabolism including the tricarboxylic acid cycle, fatty acid synthesis, amino acid synthesis and lipid metabolism. Moreover, CoA is required for biological processes like protein post-translational modi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76da075217881da9131341e2fd9c4fbf
https://hdl.handle.net/11370/c3d193b1-5191-4037-8200-a0c1ae60d50a
https://hdl.handle.net/11370/c3d193b1-5191-4037-8200-a0c1ae60d50a