CoA‐dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases

Autor: Roald A Lambrechts, Hein Schepers, Yi Yu, Marianne van der Zwaag, Kaija J Autio, Marcel A Vieira‐Lara, Barbara M Bakker, Marina A Tijssen, Susan J Hayflick, Nicola A Grzeschik, Ody CM Sibon

Publikováno v: EMBO Molecular Medicine, Vol 11, Iss 12, Pp 1-21 (2019)

Abstract PKAN, CoPAN, MePAN, and PDH‐E2 deficiency share key phenotypic features but harbor defects in distinct metabolic processes. Selective damage to the globus pallidus occurs in these genetic neurodegenerative diseases, which arise from defect

Externí odkaz: https://doaj.org/article/d8554242c8ae4af6849ce730ce21786d

Drosophila Vps13 Is Required for Protein Homeostasis in the Brain.

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

A Kinome RNAi Screen in Drosophila Identifies Novel Genes Interacting with Lgl, aPKC, and CrB Cell Polarity Genes in Epithelial Tissues

Autor: Helena E. Richardson, Peter Burke, Leonie M. Quinn, Kasun Amaratunga, Linda M. Parsons, Nicola A. Grzeschik

Publikováno v: G3 : Genes, Genomes, Genetics, 7(8), 2497-2509. GENETICS SOCIETY AMERICA
G3: Genes|Genomes|Genetics
G3: Genes, Genomes, Genetics, Vol 7, Iss 8, Pp 2497-2509 (2017)

In both Drosophila melanogaster and mammalian systems, epithelial structure and underlying cell polarity are essential for proper tissue morphogenesis and organ growth. Cell polarity interfaces with multiple cellular processes that are regulated by t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29fb71f4df8e12c32eedae86287716e2

Coenzyme A precursors flow from mother to zygote and from microbiome to host

Autor: Yi Yu, Marianne van der Zwaag, Jouke Jan Wedman, Hjalmar Permentier, Niels Plomp, Xiu Jia, Bart Kanon, Ellie Eggens-Meijer, Girbe Buist, Hermie Harmsen, Jan Kok, Joana Falcao Salles, Bregje Wertheim, Susan J. Hayflick, Erick Strauss, Nicola A. Grzeschik, Hein Schepers, Ody C.M. Sibon

Publikováno v: Molecular Cell, 82(14), 2650-2665.e12. CELL PRESS

Coenzyme A (CoA) is essential for metabolism and protein acetylation. Current knowledge holds that each cell obtains CoA exclusively through biosynthesis via the canonical five-step pathway, starting with pantothenate uptake. However, recent studies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7ec084a0bf3991b61f83dbe3079515
http://www.scopus.com/inward/record.url?scp=85134782381&partnerID=8YFLogxK

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

Autor: Arcangela Iuso, Nicola A. Grzeschik, Holger Prokisch, Iris Barshack, Muhamad Kumbar, Bart Kanon, Thomas Schwarzmayr, Gal Dubnov-Raz, Dorothea Haas, Riccardo Berutti, Bader Alhaddad, Marit Wiersma, Zeev Perles, Ben Pode-Shakked, Georg F. Hoffmann, Mathias Grigat, Tal Tirosh, Caterina Terrile, Elisa Mastantuono, Tim M. Strom, Jürgen G. Okun, Marina Rubinshtein, Matthias C. Braunisch, Yair Anikster, Shachar Abudi, Camilla Avivi, Ana C. Messias, Amir Vardi, Brundel Bianca Johanna Josephina Maria, Ody C. M. Sibon, Eran Eyal, Dina Marek-Yagel, Tobias B. Haack, Yishay Salem, Thomas Meitinger, A Volkov, Ortal Barel, Hans Joachim Schüller

Publikováno v: American Journal of Human Genetics, 102(6), 1018-1030. CELL PRESS
Am. J. Hum. Genet. 102, 1018-1030 (2018)
The American Journal of Human Genetics
Iuso, A, Wiersma, M, Schüller, H J, Pode-Shakked, B, Marek-Yagel, D, Grigat, M, Schwarzmayr, T, Berutti, R, Alhaddad, B, Kanon, B, Grzeschik, N A, Okun, J G, Perles, Z, Salem, Y, Barel, O, Vardi, A, Rubinshtein, M, Tirosh, T, Dubnov-Raz, G, Messias, A C, Terrile, C, Barshack, I, Volkov, A, Avivi, C, Eyal, E, Mastantuono, E, Kumbar, M, Abudi, S, Braunisch, M, Strom, T M, Meitinger, T, Hoffmann, G F, Prokisch, H, Haack, T B, Brundel, B J J M, Haas, D, Sibon, O C M & Anikster, Y 2018, ' Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy ', American journal of human genetics, vol. 102, no. 6, pp. 1018-1030 . https://doi.org/10.1016/j.ajhg.2018.03.022
American journal of human genetics, 102(6), 1018-1030. Cell Press

Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five conse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3fe09634366ceea231486e183784a57
http://www.scopus.com/inward/record.url?scp=85046776501&partnerID=8YFLogxK