Gärtner, Jutta

Authors Meier K, Sahoo P, Marten LM, Gkalimani I, Helms G, Dechent P, Rosewich H, Dreha-Kulaczewski S, Gärtner J Journal Brain Communications Citation Brain Commun. 2026 Aug 29;8(5):fcag311. Abstract Adrenoleukodystrophy (ALD) is an X-linked recessive disease caused by defects in the ABCD1 gene, leading to the accumulation of very long-chain

Authors Marten LM, Lüttgens MS, Berečić B, Tiburcy M, Brüser C, Gupta S, Jakobs S, Ammer E, Ohlenbusch A, Krätzner R, Rosewich H, Gärtner J Journal Free Radical Biology & Medicine Citation Free Radic Biol Med. 2026 Jan;242:654-666. Abstract X-linked adrenoleukodystrophy (X-ALD) is caused by pathogenic ABCD1 variants, leading to

Authors Wendland K, Irsfeld M, Schreiber K, Ternka K, Stadelmann C, Nessler S, Gärtner J, Kettwig M Journal Cell Death & Disease Citation Cell Death Dis. 2025 Dec 27. Abstract RNaseT2-deficient cystic leukoencephalopathy (CLE) presents with severe psychomotor retardation, cystic brain lesions, white matter alterations, and cerebral atrophy. The Rnaset2−/−

Authors Frosch M, Shimizu T, Wogram E, Amann L, Gruber L, Groisman AI, Fliegauf M, Schwabenland M, Chhatbar C, Zechel S, Rosewich H, Gärtner J, Quintana FJ, Buescher JM, Blank T, Binder H, Stadelmann C, Letzkus JJ, Hopf C, Masuda T, Knobeloch KP, Prinz M Journal Nature Citation Nature. 2025

Authors Stoldt S, Maass F, Weber M, Dennerlein S, Ilgen P, Gaertner J, Canfes A, Schweighofer SV, Jans DC, Rehling P, Jakobs S Journal Nature Communications Citation Nat Commun. 2025 Jul 10;16(1):6391. Abstract Mitochondria contain their own DNA (mtDNA) and a dedicated gene expression machinery. As the mitochondrial dimensions are

Authors Hummel-Abmeier H, Naxer S, Kadas EM, Zimmermann H, Knaack B, Huppke P, Kowallick A, Meier K, Brandt AU, Paul F, Schittkowski M, Oertel FC, Gärtner J Journal Neurology: Neuroimmunology and Neuroinflammation Citation Neurol Neuroimmunol Neuroinflamm. 2025 May;12(3):e200387. Abstract Background and objectives: Pediatric onset multiple sclerosis (POMS) leads to optic

Authors Dreha-Kulaczewski S, Sahoo P, Preusse M, Gkalimani I, Dechent P, Helms G, Hofer S, Steinfeld R, Gärtner J Journal Journal of Inherited Metabolic Disease Citation J Inherit Metab Dis. 2024 Mar;47(2):387-403. Abstract Cerebral folate transport deficiency, caused by a genetic defect in folate receptor α, is a devastating neurometabolic

Authors Schlotawa l, Matysiak K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J Journal Neuropediatrics Citation Neuropediatrics 2023; 54(S 01):

Authors Wong KM, Wegener E, Baradaran-Heravi A, Huppke B, Gärtner J, Huppke P Journal International Journal of Molecular Sciences Citation Int J Mol Sci. 2023 Jul 19;24(14):11665. Abstract Rett syndrome (RTT), a severe X-linked neurodevelopmental disorder, is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2).

Authors Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregula J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J   Journal EMBO Molecular Medicine   Citation