Andreas Roos (PhD)
Translational Research in Neuromuscular Disorders

Publication List

Pogoryelova O, Gonzalez Coraspe JA, Nikolenko N, Lochmüller H, Roos AGNE myopathy: from clinics and genetics to pathology and research strategies; Orphanet J Rare Dis. 2018 May 2;13(1):70. [doi: 10.1186/s13023-018-0802-x; PMID: 29720219]

McMacken G, Cox D, Roos A, Müller J, Whittaker R, Lochmüller H. The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes; Hum Mol Genet. 2018 May 1;27(9):1556-1564. Epub 2018 Feb 16. [doi: 10.1093/hmg/ddy062; PMID: 29462491]

O´Connor E, Phan V, Cordts I, Cairns J, Lochmüller H, Roos AMYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.;Hum Mol Genet. 2018 Apr 15;27(8):1434-1446. Epub 2018 Feb 16. [doi: 10.1093/hmg/ddy054; PMID: 29462312]

Ladislau L, Suárez-Calvet X, Toquet S, Amelin D, Landon-Cardinal O, Depp M, Rodero M, Hathazi D, Duffy D, Bondet V, Preuße C, Rozenberg F, Roos A, Benjamim C, Gallardo E, Illa I, Mouly V, Stenzel W, Butler-Browne GS, Benveniste O, Allenbach Y. JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis; Brain. 2018 Jun 1;141(6):1609-1621. Epub 2018 May 8. [doi: 10.1093/brain/awy105; PMID: 29741608]

Bansagi B, Phan V, O'Sullivan J, Mueller J, Duff J, Miller J, Gorman G, Roos A, Swan L, Horvath R. Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation; Neurology. 2018 May 22;90(21):e1842-e1848. Epub 2018 May 2
[10.1212/WNL.0000000000005566; PMID: 29720545]

Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V. PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease; J Neurol Neurosurg Psychiatry. 2018 Feb 15. Epub ahead of print. [doi: 10.1136/jnnp-2017-317562.; PMID: 29449460]

Saridaki T, Nippold M, Dinter E, Roos A, Diederichs L, Fensky L, Schulz JB, Falkenburger BH.
FYCO1 mediates clearance of α-synuclein aggregates through a Rab7 dependant mechanism; J Neurochem. 2018 May 10. [doi: 10.1111/jnc.14461; PMID: 29747217]

Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R. Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons;. Hum Mol Genet. 2018 Apr 10. Epub ahead of print. [doi: 10.1093/hmg/ddy127; PMID: 29648643]

Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V, Muntoni F, Al-Khalili-Szigyarto C, Koel-Simmelink MJA, Teunissen CE, Lochmüller H, Niks EH, Aartsma-Rus A. Exome-wide association study MMP-9 and TCTEX1D1 loci are associated with age of ambulation loss in Duchenne
J Cachexia Sarcopenia Muscle;
 2018 Apr 16. Epub ahead of print [doi: 10.1002/jcsm.12304; PMID: 29682908]

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease; Genetics in Medicine. 2018 Mar 8. [doi: 10.1038/gim.2017.251; PMID: 29517768]

O´Connor E, Topf A, Zahedi R, Spendiff S, Cox D, Roos A, Lochmüller H. Clinical and research strategies for limb-girdle congenital myasthenic syndromes; Annals of the New York Academy of Sciences. Volume 1412, Issue1. 2018 Jan 05. [doi: 10.1111/nyas.13520; PMID: 29315608]

Gonczarowska-Jorge H, Loroch S, Dell'Aica M, Sickmann A, Roos A, Zahedi RP. Quantifying Missing (Phospho)Proteome Regions with the Broad-Specificity Protease Subtilisin; Anal Chem. 2017 Nov 28. Epub ahead of print. [doi: 10.1021/acs.analchem.7b02395; PMID: 29136377]

Roos A, Thompson R, Horvath R, Lochmüller H, Sickmann A. Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases; Proteomics Clin Appl. 2017 Oct 23. Epub ahead of print [doi: 10.1002/prca.201700073; PMID: 29059504]

Kollipara L, Buchkremer S, González Coraspe JA, Hathazi D, Senderek J, Weis J, Zahedi RP, Roos AIn-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome; Oncotarget. 2017 Sep 15; 8(40): 68493–68516. Published online 2017 Jul 28. [doi: 10.18632/oncotarget.19663; PMID: 28978133]

Reza M, Cox D, Phillips L, Johnson D, Manoharan V, Grieves M, Davis B, Roos A, Morgan J, Hanna MG, Muntoni F, Lochmüller H. MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwideNeuromuscul Disord. 2017 Nov;27(11):1054-1064. Epub  2017 Jul 10. [doi: 10.1016/j.nmd.2017.07.001; PMID: 28864117]

Carr SJ, Zahedi RP, Lochmüller H, Roos AMass-Spectrometry based protein analytics to unravel the tissue pathophysiology in Duchenne Muscular Dystrophy; Proteomics Clinical Applications. 2017 Jun 20. Epub ahead of print. [doi: 10.1002/prca.201700071; PMID: 28631898]

Dreser A, Vollrath JT, Sechi A, Johann S, Roos A, Yamoah A, Katona I, Bohlega S, Wiemuth D, Tian Y, Schmidt A, Vervoorts J, Dohmen M, Beyer C, Anink J, Aronica E, Troost D, Weis J, Goswami A. The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins; Cell Death Differ. 2017 Jun 16. Epub ahead of print. [doi: 10.1038/cdd.2017.88; PMID: 28622300]

Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H. Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes; Neurology Genetics. 2017 Jun; 3(3): e152. Published online 2017 May 3. [doi: 10.1212/NXG.0000000000000152; PMCID: PMC5415388]

Reimann J, Kohlschmidt N, Tolksdorf K, Weis J, Kuchelmeister K, Roos AMuscle Pathology as a Diagnostic Clue to Allgrove Syndrome; J Neuropathol Exp Neurol. 2017 May 1;76(5):337-341. [doi: 10.1093/jnen/nlx016 PMID: 28371804].

Labisch T, Buchkremer S, Phan V, Kollipara L, Gatz C, Lentz C, Nolte K, Vervoorts J, Coraspe JA, Sickmann A, Carr S, Zahedi RP, Weis J, Roos ATracking Effects of SIL1 Increase: Taking a Closer Look Beyond the Consequences of Elevated Expression Level.; Mol Neurobiol. 2017 Apr 11. Epub ahead of print. [doi: 10.1007/s12035-017-0494-6; PMID: 28401474]. 

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.; The American Journal of Human Genetics. 2017 Mar 2;100(3):523-536. Epub ahead of print [doi: 10.1016/j.ajhg.2017.01.024; PMID: 28190456]

Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J. Towards a functional pathology of hereditary neuropathies; Acta Neuropathol. 2017 Apr;133(4):493-515. Epub 2016 Nov 28. [doi: 10.1007/s00401-016-1645-y; PMID: 27896434]

Brauers E, Roos A, Kollipara L, Zahedi RP, Beckmann A, Mohanadas N, Bauer H, Häusler M, Thoma S, Kress W, Senderek J, Weis J. The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis; Proteomics Clin Appl. 2017 Jan;11(1-2). Epub 2016 Nov 14. [doi: 10.1002/prca.201600007; PMID: 27739254].

Reza M, Laval SH, Roos A, Carr S, Lochmüller H. Optimization of Internally Deleted Dystrophin Constructs; Hum Gene Ther Methods. (2016) 174-186. [doi: 10.1089/hgtb.2016.026; PMID: 27477497]

Buchkremer S, González Coraspe JA, Weis J, Roos A. Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders; JND 3 (2016) 169-181. [doi: 10.3233/JND-160152; PMID: 27854219]

Kollipara L, Buchkremer S, Weis J, Brauers E, Hoss M, Rütten S, Caviedes P, Zahedi RP, Roos AProteome Profiling and Ultrastructural Characterization of the Human RCMH Cell Line: Myoblastic Properties and Suitability for Myopathological Studies; J Proteome Res 15 (2016) 945-955. [doi: 10.1021/acs.jproteome.5b00972; PMID: 26781476]

Roos A, Kollipara L, Buchkremer S, Labisch T, Brauers E, Gatz C, Lentz C, Gerardo-Nava J, Weis J, Zahedi RP. Proteomic signature of SIL1 depletion: disease pathogenesis due to alterations in protein composition beyond the ER-machinery; Mol Neurobiol 53 (2016) 5527-5541. [doi: 10.1007/s12035-015-9456-z; PMID: 26468156].

Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J. Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons; J Peripher Nerv Syst 20 (2015) 52-59.

Filézac de L'Etang A, Maharjan N, Cordeiro Braña M, Ruegsegger C, Rehmann R, Goswami A, Roos A, Troost D, Schneider BL, Weis J, Saxena S. Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS; Nat Neurosci 18 (2015) 227-238.

Jauhari P, Sahu JK, Singhi P, Vyas S, Roos A, Senderek J. SIL1 Negative Marinesco-Sjӧgren syndrome: First report of two sibs from India; J Pediatr Neurosci 9 (2014) 291-292.

Reifenberger G, Malzkorn B, Acker T, Bettstetter M, Buslei R, von Deimling A, Dietmaier W, Dubbink HJ, Eigenbrod S, Garvalov BK, Gerstenmaier U, Giese A, Haase D, Hasselblatt M, Kirches E, Koch A, Marienfeld R, Mittelbronn M, Montesinos-Rongen M, Pagenstecher A, Riemenschneider MJ, Prinz M, Romeike B, Roos A, Spiegl-Kreinecker S, Schittenhelm J, Schlegel J, Thal DR, Tops BB, Weis J, Westphal G, Worm K, Felsberg J; Results of the international interlaboratory comparison of MGMT promoter methylation analysis involving twenty-three academic centers in Germany, Austria and the Netherlands; Neuro Oncol 16 (2014) Suppl 3:iii49-iii50.

Elbracht M, Senderek J, Schara U, Nolte K, Klopstock T, Roos A, Reimann J, Zerres K, Weis J, Rudnik-Schöneborn S. Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie-Tooth disease type 2E; Clin Neuropathol 33 (2014) 335-343.

Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J. Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology; Acta Neuropathol 127 (2014) 761-777.

Roos A, von Kaisenberg CS, Eggermann T, Schwanitz G, Löffler C, Weise A, Mrasek K, Junge A, Caliebe A, Belitz B, Kautza M, Schüler H, Zerres K, Heidemann S. Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies; Arch Gynecol Obstet 288 (2013) 1153-1158.

Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG. Novel TPM3 mutation in a family with cap myopathy and review of the literature; Neuromuscul Disord 24 (2014) 117-124.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome; Brain 136 (2013) 3634-3644.

Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease; Hum Mol Genet 22 (2013) 4224-4232.

Prause J, Goswami A, Katona I, Roos A, Schnizler M, Bushuven E, Dreier A, Buchkremer S, Johann S, Beyer C, Deschauer M, Troost D, Weis J. Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis; Hum Mol Genet 22 (2013) 1581-1600.

Schreckenbach T, Henn W, Kress W, Roos A, Maschke M, Feiden W, Dillmann U, Schulz JB, Weis J, Claeys KG. Novel FHL1 mutation in a family with reducing body myopathy; Muscle Nerve 47 (2013) 127-134.

Roos A, Schwanitz G, Diepolder I, Senderek J, Eggermann K. Search for cryptic subtelomeric aberrations in patients with non-classical Marinesco-Sjögren phenotype; JPN 10 (2012) 167-172.

Brauers E, Dreier A, Roos A, Weis J, Krüttgen A. Differential effects of myopathy-associated caveolin-3 mutants on growth factor signalling; Am J Pathol 177 (2010) 261-270.

Stendel C*, Roos A*, Kleine H, Arnaud E, Özçelik M, Sidiropoulos P, Zenker J, Schüpfer F, Lehmann U, Sobota RM, Litchfield DW, Lüscher B, Chrast R, Suter U, Senderek J. SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling; Brain 133 (2010) 2462-2474.

Arnaud E, Zenker J, de Preux Charles A-S, Stendel C, Roos A, Médard J-J, Tricaud N, Weis J, Suter U, Senderek J, Chrast R. SH3TC2 protein that is mutated in CMT4C disease is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system; Proc Natl Acad Sci USA 106(41) (2009) 17528-17533.

Roos A, Tonnies H, Goecke T, Haaf T, Baudis M, Spengler S, Eggermann T, Schueler H. First case of a constitutional intrachromosomal triplication 1q43→q44: molecular- and cytogentic investigations and characterization of the phenotype; Chromosome Res 17 (2009) 48-49.

Elbracht M, Roos A, Schönherr N, Busse, S, Damen R, Zerres KP, Rudnik-Schöneborn S, Schüler HM. Pure Distal Trisomy 2q: A Rare Chromosomal Abnormality with Recognizable Phenotype; Am J Med Genet 149A(11) (2009) 2547-2550.

Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Autosomal dominat distal myopathy associated with recurrent missense mutation in the gene encoding the nuclear protein, matrin 3; Am J Hum Genet 84 (2009) 511-518.

Roos A, Eggermann T, Zschiesche S, Midro A, Schwanitz G. Abnormalities in tooth morphology, structure and dentition in two children with chromosome aberrations. Translocation trisomy 13 and trisomy 21; Advances in Medical Sciences 53 (2008) 17-20.

Roos A, Elbracht M, Baudis M, Senderek J, Schönherr  N, Eggermann. T, Schüler HM. A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant; Am J Med Genet 146A(18) (2008) 2417-2420.

Roos A, Eggermann T, Zerres K, Schüler HM. Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q; Am J Med Genet 146A(6) (2008) 795-798.

Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J. Peripheral nerve demyelination caused by a mutant  Rho GTPase guanine nucleotide exchange factor, Frabin/FGD4; Am J Hum Genet 81 (2007) 158-164.

Schönherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome; J Med Genet 44(1) (2007) 59-63.

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH; Eur J Med Genet 49(6) (2006) 505-510.

* Publication with shared first authorship

Book Chapters

Weis J, Roos A, Katona I, Senderek J. Dominant and recessive intermediate CMT (CMTDI and CMTRI). Published in: Causes of Neuropathies; The International Society of Neuropathology (2014)

Roos A, Brauers E, Buchkremer S, Spengler S, Schüler HM, Schwanitz G. Subtelomeric endings - chromosomal regions with a high diagnostic impact in mental retardation syndromes: insights from the past two decades, taking a closer look at chromosome tips. Published in: Intellectual Disability: Management, Causes and Social Perceptions; Nova Publishers (2011).