Lipids, lysosomes and mitochondria: insights into Lewy body formation from rare monogenic disorders

Autor: Daniel Erskine, David J. Koss, Johannes Attems, Viktor I. Korolchuk, Ian G. McKeith, Tiago F. Outeiro

Publikováno v: Acta Neuropathologica
Acta neuropathologica 141(4), 511-526 (2021). doi:10.1007/s00401-021-02266-7

Accumulation of the protein α-synuclein into insoluble intracellular deposits termed Lewy bodies (LBs) is the characteristic neuropathological feature of LB diseases, such as Parkinson’s disease (PD), Parkinson’s disease dementia (PDD) and demen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43306bec4e1cde40566d68af6e3b9796
http://europepmc.org/articles/PMC7952289

Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A)

Autor: Patrick Krumm, Andreas Oettinger, Marius Horger, Adam P. Vogel, Matthis Synofzik, Natalie Rommel, Eva-Maria Kraus, Ludger Schöls

Publikováno v: Mitochondrion 37, 1-7 (2017). doi:10.1016/j.mito.2017.06.002

Background Mutations in the nuclear-encoded mitochondrial DNA polymerase gamma (POLG) can result in a wide spectrum of neurological deficits. A common presentation is progressive ataxia (POLG-A) which includes impaired speech and swallowing. The natu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0293ada2a093d51cfbab6046fd294ddd
https://doi.org/10.1016/j.mito.2017.06.002

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Autor: Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rotig, Agnes, Ardissone, Anna, Lombes, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Ding, Wenhong, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joel, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Haberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 13(1), 120 (2018). doi:10.1186/s13023-018-0784-8
Orphanet Journal of Rare Diseases, Vol. 13, no. 1, p. 120 [1-10] (2018)
Orphanet journal of rare diseases
Repp, B M, Mastantuono, E, Alston, C L, Schiff, M, Haack, T B, Rötig, A, Ardissone, A, Lombès, A, Catarino, C B, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, H J M, Wittig, I, Scurr, I, de Coo, I F M, Moroni, I, Smet, J, Mayr, J A, Dai, L, de Meirleir, L, Schuelke, M, Zeviani, M, Morscher, R J, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, T M, Herberg, U, Ahting, U, Sperl, W, Nassogne, M-C, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, R W, Häberle, J, Vockley, J, Prokisch, H & Wortmann, S 2018, ' Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? ', Orphanet Journal of Rare Diseases, vol. 13, 120 . https://doi.org/10.1186/s13023-018-0784-8
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, 13:120. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Orphanet J. Rare Dis. 13:120 (2018)
Orphanet Journal of Rare Diseases, 13:120. BioMed Central Ltd

Background Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bd4bd868f15234ec3bf494d814fdaf2e
https://pubmed.ncbi.nlm.nih.gov/30025539

International Paediatric Mitochondrial Disease Scale

Autor: Ilse Dirks, Robert McFarland, Mirian C. H. Janssen, Saskia Koene, Cheuk-Wing Fung, Lonneke de Boer, Jan A.M. Smeitink, Elizabeth M. McCormick, Imelda J. M. de Groot, Claudia Stendel, Thomas Klopstock, I. René F. M. de Coo, Izelle Smuts, Katharina Vill, Virginia Wong, Marni J. Falk, Jan C.M. Hendriks, Maaike de Vries

Publikováno v: Journal of Inherited Metabolic Disease, 39(5), 705-712. Springer Netherlands
Journal of inherited metabolic disease 39(5), 705-712 (2016). doi:10.1007/s10545-016-9948-7
Journal of Inherited Metabolic Disease, 39, 705-12
Journal of Inherited Metabolic Disease, 39, 5, pp. 705-12

Contains fulltext : 167896.pdf (Publisher’s version ) (Open Access) OBJECTIVE: There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96db96155290218d357cd94a7b4981bd
https://pure.eur.nl/en/publications/38dad62b-a27d-41cf-bb9f-16940544cae9

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

Autor: Douglas C. Wallace, Michael V. Zaragoza, Marta Diegoli, Eloisa Arbustini, Martin Brandon

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics; Vol 19
Zaragoza, Michael V; Brandon, Martin C; Diegoli, Marta; Arbustini, Eloisa; & Wallace, Douglas C. (2011). Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.. European journal of human genetics : EJHG, 19(2), 200-207. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/4sm8732p
Zaragoza, MV; Brandon, MC; Diegoli, M; Arbustini, E; & Wallace, DC. (2011). Mitochondrial cardiomyopathies: How to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny. European Journal of Human Genetics, 19(2), 200-207. doi: 10.1038/ejhg.2010.169. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/69920992

Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. Owing to a high mutation rate, mtDNA defects may occur at any nucleotide in its 16 569 bp sequence. Complete mtDNA sequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28f4c87a84f3a28d5f2c64ae3f9698f0