Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Fabian, Baertling"'
Autor:
Ina Kirchberg, Elke Lainka, Andrea Gangfuß, Alma Kuechler, Fabian Baertling, Lea D. Schlieben, Dominic Lenz, Eva Tschiedel
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Background/purposeMEGDHEL syndrome is a rare autosomal recessive metabolic disorder, which is characterized by 3-methylglutaconic aciduria with deafness-dystonia, hepatopathy, encephalopathy and Leigh-like syndrome. It is caused by biallelic pathogen
Externí odkaz:
https://doaj.org/article/7f48da23cd244ccda1488ac164242ba9
Autor:
Tharsini Navaratnarajah, Marlen Bellmann, Annette Seibt, Ruchika Anand, Özer Degistirici, Roland Meisel, Ertan Mayatepek, Andreas Reichert, Fabian Baertling, Felix Distelmaier
Publikováno v:
Stem Cell Research & Therapy, Vol 13, Iss 1, Pp 1-10 (2022)
Abstract The most frequent biochemical defect of inherited mitochondrial disease is isolated complex I deficiency. There is no cure for this disorder, and treatment is mainly supportive. In this study, we investigated the effects of human mesenchymal
Externí odkaz:
https://doaj.org/article/c56be867ce0047c3ab3933fd392a5a64
Autor:
Marlen Melcher, Katharina Danhauser, Annette Seibt, Özer Degistirici, Fabian Baertling, Arun Kumar Kondadi, Andreas S. Reichert, Werner J. H. Koopman, Peter H. G. M. Willems, Richard J. Rodenburg, Ertan Mayatepek, Roland Meisel, Felix Distelmaier
Publikováno v:
Stem Cell Research & Therapy, Vol 8, Iss 1, Pp 1-14 (2017)
Abstract Background Disorders of the oxidative phosphorylation (OXPHOS) system represent a large group among the inborn errors of metabolism. The most frequently observed biochemical defect is isolated deficiency of mitochondrial complex I (CI). No e
Externí odkaz:
https://doaj.org/article/09492fc38954469c9353cc31c801a4c5
Autor:
Tharsini Navaratnarajah, Marlen Bellmann, Annette Seibt, Ruchika Anand, Özer Degistirici, Roland Meisel, Ertan Mayatepek, Andreas Reichert, Fabian Baertling, Felix Distelmaier
Publikováno v:
Stem cell researchtherapy. 13(1)
The most frequent biochemical defect of inherited mitochondrial disease is isolated complex I deficiency. There is no cure for this disorder, and treatment is mainly supportive. In this study, we investigated the effects of human mesenchymal stem cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd72dedca18c9dea0c6694f7191fa454
https://pubmed.ncbi.nlm.nih.gov/35715829
https://pubmed.ncbi.nlm.nih.gov/35715829
Autor:
Matias Wagner, Thomas Meitinger, Fabian Baertling, Theresa Brunet, Hemmen Sabir, Felix Distelmaier, Thomas Meissner, Dagmar Wieczorek
Publikováno v:
Genet. Med. 22, 654-655 (2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa08d7560740f91dd2fb0434d4a681b
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57174
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57174
Autor:
Jan A.M. Smeitink, I.F.M. de Coo, Laura Sánchez-Caballero, Richard J. Rodenburg, Leo G.J. Nijtmans, Fabian Baertling, M.A.M. van den Brand, Virginia Wong, Cheuk-Wing Fung, Debby M.E.I. Hellebrekers, Sophelia H. S. Chan
Publikováno v:
Clinical Genetics. 93:111-118
Mitochondrial respiratory chain complex I consists of 44 different subunits and contains 3 functional modules: the Q-, the N- and the P-module. NDUFA9 is a Q-module subunit required for complex I assembly or stability. However, its role in complex I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b930656822b9f7c9b35ea1f127b19744
https://doi.org/10.1111/cge.13089
https://doi.org/10.1111/cge.13089
Publikováno v:
eLS
The underlying mutations in nuclear genes that directly affect the mitochondrial oxidative phosphorylation system are now known. Advances in this area have profited from progress in various genome projects. Keywords: mitochondria; respiratory chain;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2b0d01595759021c302d33fb9eb6f79
https://doi.org/10.1002/9780470015902.a0006029.pub3
https://doi.org/10.1002/9780470015902.a0006029.pub3
Autor:
Hanka Venselaar, Richard J. Rodenburg, Mariël A.M. van den Brand, Fabian Baertling, Laura Sánchez-Caballero, Khalfan S. Al-Senaidi, Fathiya Al-Murshedi, Leo G.J. Nijtmans, Niranjan Joshi
Publikováno v:
Human Mutation. 38:692-703
COX5A is a nuclear-encoded subunit of mitochondrial respiratory chain complex IV (cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the COX5A gene. Clinical details of two affected siblings suffering from early-onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db2bb8422756cb2cc5ad05cbcad07760
https://doi.org/10.1002/humu.23210
https://doi.org/10.1002/humu.23210
Autor:
Thomas Meitinger, Sonja Budaeus, Tim M. Strom, Annette Seibt, Bader Alhaddad, Felix Distelmaier, Jörg Schaper, Holger Prokisch, Ertan Mayatepek, Tobias B. Haack, Fabian Baertling
Publikováno v:
Metab. Brain Dis. 32, 267-270 (2017)
VARS2 encodes a mitochondrial aminoacyl-tRNA-synthetase. Mutations in VARS2 have recently been identified as a cause of mitochondrial encephalomyopathy in three individuals. However, clinical information remained scarce. Exome sequencing lead us to i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a8aeed3f643e1674dac8f7c9d6c21e
https://doi.org/10.1007/s11011-016-9890-2
https://doi.org/10.1007/s11011-016-9890-2
Autor:
Ertan Mayatepek, Jörg Schaper, Holger Prokisch, Fabian Baertling, Tobias B. Haack, Thomas Meitinger, Felix Distelmaier, Dirk Klee
Publikováno v:
Child's Nervous System. 32:2077-2083
The knowledge about the genetic spectrum underlying paediatric mitochondrial diseases is rapidly growing. As a consequence, the range of neuroimaging findings associated with mitochondrial diseases became extremely broad. This has important implicati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9ba93d78bdcf372b68edf7238bc82a
https://doi.org/10.1007/s00381-016-3190-3
https://doi.org/10.1007/s00381-016-3190-3