Publications by authors named "Annette Seibt"

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CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q deficiency.
Sonja Herbrich, Haribaskar Ramachandran, Annette Seibt, Isabella Tolle, Annika Zink

Stem Cell Res· October 2025

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Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.
Felix Distelmaier, Julia Corral-Sarasa, Laura Jiménez-Sánchez, María Elena Díaz-Casado, Melanie Rohmann, Annette Seibt

Brain· September 2025

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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Annette Seibt

Brain· July 2024

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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Felix Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, Annette Seibt

Brain· July 2024

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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Annette Seibt

Genet Med· July 2023

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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Margot R F Reijnders, Annette Seibt, Melanie Brugger, Ideke J C Lamers, Torsten Ott

Genet Med· July 2023

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Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Isabell Cordts, Luisa Semmler, Jannik Prasuhn, Annette Seibt, Diran Herebian

Mov Disord· October 2022

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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle

J Med Genet· September 2022

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Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants.
Tharsini Navaratnarajah, Marlen Bellmann, Annette Seibt, Ruchika Anand, Özer Degistirici

Stem Cell Res Ther· June 2022

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MATR3 haploinsufficiency and early-onset neurodegeneration.
Michael Zech, Annette Seibt, Barbara Zumbaum, Dirk Klee, Thomas Meitinger

Brain· October 2021

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The long non-coding RNA HOTAIRM1 promotes tumor aggressiveness and radiotherapy resistance in glioblastoma.
Ulvi Ahmadov, Daniel Picard, Jasmin Bartl, Manuela Silginer, Marija Trajkovic-Arsic, Annette Seibt

Cell Death Dis· September 2021

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Andreea Manole, Stephanie Efthymiou, Emer O'Connor, Marisa I Mendes, Matthew Jennings, Annette Seibt

Am J Hum Genet· August 2020

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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, Cynthia M Powell, Bader Alhaddad, Annette Seibt

Am J Hum Genet· February 2020

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Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.
Christina R Fagerberg, Adrian Taylor, Felix Distelmaier, Henrik D Schrøder, Maria Kibæk, Annette Seibt

Brain· January 2020

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Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Alessandro Esposito, Antonio Falace, Matias Wagner, Moran Gal, Davide Mei, Annette Seibt

Brain· December 2019

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4-Hydroxybenzoic acid restores CoQ biosynthesis in human COQ2 deficiency.
Diran Herebian, Annette Seibt, Sander H J Smits, Richard J Rodenburg, Ertan Mayatepek

Ann Clin Transl Neurol· December 2017

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Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser

Eur J Hum Genet· September 2017

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Detection of 6-demethoxyubiquinone in CoQ deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.
Diran Herebian, Annette Seibt, Sander H J Smits, Gisela Bünning, Christoph Freyer

Mol Genet Metab· July 2017

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Modification of the fatty acid composition of an obesogenic diet improves the maternal and placental metabolic environment in obese pregnant mice.
Martina Gimpfl, Jan Rozman, Maik Dahlhoff, Raphaela Kübeck, Andreas Blutke, Annette Seibt

Biochim Biophys Acta Mol Basis Dis· June 2017

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Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.
Marlen Melcher, Katharina Danhauser, Annette Seibt, Özer Degistirici, Fabian Baertling

Stem Cell Res Ther· June 2017

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Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Fabian Baertling, Bader Alhaddad, Annette Seibt, Sonja Budaeus, Thomas Meitinger

Metab Brain Dis· February 2017

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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Laura S Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Annette Seibt

Am J Hum Genet· October 2016

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EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
Katharina Danhauser, Tobias B Haack, Bader Alhaddad, Marlen Melcher, Annette Seibt

Metab Brain Dis· June 2016

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MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Fabian Baertling, Tobias B Haack, Richard J Rodenburg, Jörg Schaper, Annette Seibt

Neurogenetics· July 2015

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Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.
Felix Distelmaier, Federica Valsecchi, Dania C Liemburg-Apers, Magdalena Lebiedzinska, Richard J Rodenburg, Annette Seibt

Biochim Biophys Acta· March 2015

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