Wittenstein A, Caspi M, Rippin I, Elroy-Stein O, Eldar-Finkelman H, Thoms S, Rosin-Arbesfeld R (2023) Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process. PLoS Biol. 21:e3002355. doi: 10.1371/journal.pbio.3002355.

Great work by Amnon, great collaboration with Rina and her team!

Nava E, Hartmann B, Boxheimer L, Capone Mori A, Nuoffer JM, Sargsyan Y, Thoms S, Rosewich H, Boltshauser E (2022) How to Detect Isolated PEX10-Related Cerebellar Ataxia? Neuropediatrics 53:159-166. doi: 10.1055/s-0041-1741383

Cellular characterization of fibroblasts from a PEX10 patient

Oleksiievets N, Sargsyan Y, Thiele JC, Mougios N, Sograte-Idrissi S, Nevskyi O, Gregor I, Opazo F, Thoms S, Enderlein J, Tsukanov R (2022) Fluorescence lifetime DNA-PAINT for multiplexed super-resolution imaging of cells. Commun Biol 5:38. doi: 10.1038/s42003-021-02976-4.

Thanks, Roman and Jörg for this collaboration, for giving us the opportunity to DNA-PAINT, multiplex, and super-resolve!

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Schilff M, Sargsyan Y, Hofhuis J, Thoms S (2021) Stop Codon Context-Specific Induction of Translational Readthrough. Biomolecules 11:1006. doi: 10.3390/biom11071006.

100 -fold more or less aminoglycoside is required to induce 1% readthrough, depending on the stop codon context - a small but important step towards precision medicine in readthough therapy.

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Sargsyan Y, Bickmeyer U, Gibhardt CS, Streckfuss-Bömeke K, Bogeski I, Thoms S (2021) Peroxisomes contribute to intracellular calcium dynamics in cardiomyocytes and non-excitable cells. Life Sci Alliance 4:e202000987. doi: 10.26508/lsa.202000987.

It's real: calcium in the peroxisome!

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Hofhuis J, Bersch K, Wagner S, Molina C, Fakuade FE, Iyer LM, Streckfuss-Bömeke K, Toischer K, Zelarayán LC, Voigt N, Nikolaev VO, Maier LS, Klinge L, Thoms S (2020) Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system. Europace 22:1119-1131. doi: 10.1093/europace/euaa093. PMID: 32572487.

Studying the function of dysferlin in the heart

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Bulankina AV, Thoms S (2020) Functions of Vertebrate Ferlins. Cells 9:534. doi: 10.3390/cells9030534. PMID: 32106631.

One of the most comprehensive reviews on ferlin proteins

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Sargsyan Y, Thoms S (2020) Staying in Healthy Contact: How Peroxisomes Interact with Other Cell Organelles. Trends Mol Med 26:201-214. doi: 10.1016/j.molmed.2019.09.012. PMID: 31727543.

The exciting new field of peroxisome-organelle interactions

 

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Bersch K, Lobos Matthei I, Thoms S (2018) Multiple Localization by Functional Translational Readthrough. Subcell Biochem 89:201-219. doi: 10.1007/978-981-13-2233-4_8. PMID: 30378024.

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Soliman K, Göttfert F, Rosewich H, Thoms S, Gärtner J (2018) Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes. Sci Rep 8:7809. doi: 10.1038/s41598-018-24119-2. PMID: 29773809.

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Buentzel J, Thoms S (2017) The Use of Glycosylation Tags as Reporters for Protein Entry into the Endoplasmic Reticulum in Yeast and Mammalian Cells. Methods Mol Biol 1595:221-232. doi: 10.1007/978-1-4939-6937-1_21. PMID: 28409466.

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​Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AM, Vorstman JA, Thoms S, Jahn O, Duran KJ, Monroe GR, Ryan TA, Taschenberger H, Dittman JS, Rhee JS, Visser G, Jans JJ, Brose N (2017) Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder. J Clin Invest. 127:1005-1018. doi: 10.1172/JCI90259. PMC: 5330740. PMID: 28192369.

A new disease, caused by mutations in a gene encoding a neuronal C2-domain protein

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Hofhuis J, Bersch K, Büssenschütt R, Drzymalski M, Liebetanz D, Nikolaev VO, Wagner S, Maier LS, Gärtner J, Klinge L, Thoms S (2017) Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. J Cell Sci. 130:841-852. PMID: 28104817. doi: 10.1242/jcs.198861. 

Dysferlin supports the formation of (T-)tubules, in vivo and in vitro

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Yofe I, Soliman K, Chuartzman SG, Morgan B, Weill U, Yifrach E, Dick TP, Cooper SJ, Ejsing CS, Schuldiner M, Zalckvar E, Thoms S (2017) Pex35 is a regulator of peroxisome abundance. J Cell Sci. 130:791-804. PMID: 28049721. doi: 10.1242/jcs.187914.

A new and exciting peroxisome regulator

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Schueren F, Thoms S* (2016)  Functional Translational Readthrough: A Systems Biology Perspective. PLoS Genet. 2016 12:e1006196. PMID: 27490485. doi: 10.1371/journal.pgen.1006196.

Review article on the emerging field of programmed and functional translational readthrough

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Hofhuis J, Schueren F, Lingner T, Gärtner J, Jahn O, Thoms S* (2016). The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code. Open Biology, 6:160246. PMID: 27881739 @Plos Genetics PDF

Which amino acids are encoded by the stop codon in iunctional translational readthrough of MDH1x?

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Nötzel C , Lingner T, Klingenberg H, Thoms S* (2016) Identification of new fungal peroxisomal matrix proteins and revision of the PTS1 consensus. Traffic 17, 1110–1124. PMID: 27392156 @Traffic PDF

Two new peroxisomal proteins identified by bioinformatics and a new  PTS1 consensus motif

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 Buentzel J, Vilardi F, Lotz-Havla A, Gärtner J, Thoms S* (2015). Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins. Sci Rep 5:17420. PMID: 26627908 @ScientificReports

The targeting of the TA proteins Pex15 and PEX26

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Schueren F, Lingner T, George R, Hofhuis J, Dickel C, Gärtner J*, Thoms S* (2014) Peroxisomal lactate dehydrogenase is generated by translational readthrough in mammals. Elife 3, e03640. PMID: 2524770 @eLife

Identification of functional translational readthrough as a new gene regulatory principle in humans

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Cohen Y, Klug YA, Dimitrov L, Erez Z, Chuartzman SG, Elinger D, Yofe I, Soliman K, Gärtner J, Thoms S, Schekman R, Elbaz-Alon Y, Zalckvar E, Schuldiner M (2014) Peroxisomes are juxtaposed to strategic sites on mitochondria.  Mol Biosyst 10:1742-1748.

Cooperation with Maya Schuldiner and Randy Schekman on the interaction of cellular organelles

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Otzen M, Rucktäschel R, Thoms S, Emmrich K, Krikken AM, Erdmann R, van der Klei IJ (2012) Pex19p contributes to peroxisome inheritance in the association of peroxisomes to Myo2p. Traffic 13:947-959.

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Thoms S*, Hofhuis J, Töning, Gärtner J, Niemann HH* (2011) Crystal structures of the peroxisomal α/β-hydrolase Lpx1 reveal an unusually extended C-terminal helix involved in dimer contacts. J Struct Biol 175, 362-371.

X-ray structure determination of a peroxisomal enzyme

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Thoms S*§, Grønborg S§, Rabenau J, Ohlenbusch A, Rosewich H, Gärtner J (2011) Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. BMC Med Gen 12, 109. (§ equal contribution)

Promotor analysis of PEX1 and novel genotype-phenotype analysis of Zellweger syndrome

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Quentin T*, Steinmetz M, Poppe A, Thoms S* (2011) Metformin differentially activates ER stress signaling pathways without inducing apoptosis. Dis Mod Mech 5:259-269.

New mechanistic insight into the most commonly prescribed non-insulin antidiabetic drug

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Thoms S*, Harms I, Kalies KU, Gärtner J (2011) Peroxisome formation requires the endoplasmic reticulum channel Sec61. Traffic 3:599-609. PMID: 22212716 @Traffic

Functional role of the endoplasmic reticulum in peroxisome biogenesis

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Kaczmarek K, Studencka M, Meinhardt A, Wieczerzak K, Thoms S, Engel W, Grzmil P (2011) Overexpression of peroxisomal testis specific 1 protein induces germ cell apoptosis and leads to infertility in male mice. Mol Biol Cell 22:1766-1779.

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Thoms S, Debelyy M, Connerth M, Daum G, Erdmann R (2011) The putative yeast hydrolase Ldh1p is localized to Lipid droplets. Eukaryotic Cell 10:770-775.

Description of a new lipolytic enzyme in lipid droplets

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Debelyy M, Thoms S, Connerth M, Daum G, Erdmann R (2011) Involvement of the yeast hydrolase Ldh1p in lipid homeostasis. Eukaryotic Cell 10, 776-781.

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Debelyy MO, Platta HW, Saffian D, Hensel S, Thoms S, Meyer HE, Bettina Warscheid B, Girzalsky W, Erdmann E (2011) The ubiquitin hydrolase Ubp15p assists the AAA-peroxins in receptor export. J Biol Chem 286, 28223-28234.

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Swayne TC, Zhou C, Boldogh IR, Charalel JK, McFaline-Figueroa JR, Thoms S, Yang C, Leung G, McInnes J, Erdmann R, Pon LA (2011) Role for cER and Mmr1p in anchorage of mitochondria at sites of polarized surface growth in budding yeast. Current Biology 21:1994-1999.

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Rucktäschel R§, Thoms S§, Alexandrov K, Kuhlmann J, Volkmer-Engert R, Rottensteiner H, Erdmann R (2009) Farnesylation of Pex19p Is Required for Its Structural Integrity and Function in Peroxisome Biogenesis, J Biol Chem 284, 20885-20896. (§ equal contrib.)

A new role of farnesylation in protein stabilization

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Stachon A, Aweimer A, Stachon T, Tannapfel A, Thoms S, Ubrig B, Köller M, Krieg M, Truss MC (2009) Secretion of soluble VEGF receptor 2 by microvascular endo­thelial cells derived by human benign prostatic hyperplasia. Growth Factors 27:71-78.

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Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J (2009) RNASET2 deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nature Genetics 41, 773 – 775.

First description of a new brain disease

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Thoms S, Debelyy MO, Nau K, Meyer HE, and Erdmann R (2008) Lpx1p is a peroxisomal lipase required for normal peroxisome morphology. FEBS Journal, 275, 504-514.

Identification of a new lipolytic enzyme in peroxisomes

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Braun S, Matuschewski K, Rape M, Thoms S, Jentsch S (2002) Role of the ubiquitin-selective Cdc48Ufd1/Npl4 chaperone (segregase) in ERAD of OLE1 and other substrates. EMBO Journal 21, 615-621.

Discovery of role of Cdc48 in ERAD

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Thoms S (2002) Cdc48 can distinguish between native and non-native proteins in the absence of cofactors. FEBS Letters 520,107-110.

Chaperone function of the AAA-type ATPase Cdc48