Expanding the genetic and clinical spectrum of SLC25A42‐associated disorders and testing of pantothenic acid to improve CoA level in vitro

Autor: Katharina Heckmann, Arcangela Iuso, Janine Reunert, Marianne Grüneberg, Anja Seelhöfer, Stephan Rust, Giuseppe Fiermonte, Eleonora Paradies, Carmela Piazzolla, Manoj Mannil, Thorsten Marquardt

Publikováno v: JIMD Reports, Vol 65, Iss 6, Pp 417-425 (2024)

Abstract SLC25A42 encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental de

Externí odkaz: https://doaj.org/article/ced1ad9d333f46d5ab7a3cd2c977283d

Mitochondrial DNA mutations in Medulloblastoma

Autor: Viktoria L. E. Funke, Sarah Sandmann, Viktoria Melcher, Jochen Seggewiss, Judit Horvath, Natalie Jäger, Marcel Kool, David T. W. Jones, Stefan M. Pfister, Till Milde, Stefan Rutkowski, Martin Mynarek, Julian Varghese, Ronald Sträter, Stephan Rust, Anja Seelhöfer, Janine Reunert, Barbara Fiedler, Ulrich Schüller, Thorsten Marquardt, Kornelius Kerl

Publikováno v: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-4 (2023)

Abstract To date, several studies on genomic events underlying medulloblastoma (MB) biology have expanded our understanding of this tumour entity and led to its division into four groups—WNT, SHH, group 3 (G3) and group 4 (G4). However, there is li

Externí odkaz: https://doaj.org/article/4d42ac6cc3f343f1a26382b1265c71a1

Expanding the genetic and clinical spectrum of SLC25A42‐associated disorders and testing of pantothenic acid to improve CoA level in vitro.

Autor: Heckmann, Katharina, Iuso, Arcangela, Reunert, Janine, Grüneberg, Marianne, Seelhöfer, Anja, Rust, Stephan, Fiermonte, Giuseppe, Paradies, Eleonora, Piazzolla, Carmela, Mannil, Manoj, Marquardt, Thorsten

Publikováno v: Journal of Inherited Metabolic Disease Reports; Nov2024, Vol. 65 Issue 6, p417-425, 9p

Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.

Autor: Heckmann K; Department of General Pediatrics University Hospital Münster Münster Germany., Iuso A; Institute of Neurogenomics, Helmholtz Zentrum München Neuherberg Germany.; Institute of Human Genetics Technical University of Munich Munich Germany., Reunert J; Department of General Pediatrics University Hospital Münster Münster Germany., Grüneberg M; Department of General Pediatrics University Hospital Münster Münster Germany., Seelhöfer A; Department of General Pediatrics University Hospital Münster Münster Germany., Rust S; Department of General Pediatrics University Hospital Münster Münster Germany., Fiermonte G; Department of Biosciences, Biotechnologies and Biopharmaceutics University of Bari Bari Italy., Paradies E; Department of Biosciences, Biotechnologies and Biopharmaceutics University of Bari Bari Italy., Piazzolla C; Department of Biosciences, Biotechnologies and Biopharmaceutics University of Bari Bari Italy., Mannil M; Clinic of Radiology University Hospital Münster Münster Germany., Marquardt T; Department of General Pediatrics University Hospital Münster Münster Germany.

Publikováno v: JIMD reports [JIMD Rep] 2024 Aug 21; Vol. 65 (6), pp. 417-425. Date of Electronic Publication: 2024 Aug 21 (Print Publication: 2024).

From Incremental Test to Continuous Running at Fixed Lactate Thresholds: Individual Responses on %VO 2max , %HR max , Lactate Accumulation, and RPE.

Autor: Fleckenstein, Daniel, Seelhöfer, Jannik, Walter, Nico, Ueberschär, Olaf

Publikováno v: Sports (2075-4663); Oct2023, Vol. 11 Issue 10, p198, 11p