Wirth lab
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Wirth lab

Principal investigator

Prof. Dr. rer. nat. Brunhilde Wirth
Institut für Humangenetik
Kerpener Str. 34, 50931 Köln (Cologne), Germany
Tel.: +49 221 478-86464
Fax: +49 221 478-86812


Group members


Main research interest

The Wirth group focuses its research on the identification and understanding of disease-causing genes, modifier pathways and pathomechanisms of neuromuscular disorders, mainly of spinal muscular atrophy and further motor neuron disorders. Most recently, the group has extended its research activities also on osteoporosis and the understanding of bone development and remodelling. In order to identify the genetic cause of the disease, we apply the most advanced technologies including next generation sequencing and transcriptome analysis. The laboratory has been developing and is using a large number of different methods and technologies to understand the genetic, biochemical, cellular and pathological basis of motor neuron disorders and osteoporosis. We are generating and using conditional and transgenic motor neuron mouse models, zebrafish and, most recently, Drosophila models. Our utmost goal is the development of therapies, which is a particular strong interest of our group.


A. Search for the molecular genetic and molecular biological cause of spinal muscular atrophy and development of a therapy
    1. Search for SMA-modifying factors
    2. Molecular and functional analysis of the survival motor neuron (SMN) protein and of SMN-interacting proteins to uncover the cellular processes disturbed by SMN loss
    3. Unravelling the alternative splicing network of the SMN2 gene
Development of a SMA therapy based on activation of the SMN2 gene or of activation or suppression of SMA-modifying factors


    B. Identification of novel disease-causing genes and functional characterization of unsolved motor neuron disorders
      1. Recruitment of patients and their families with motor neuron disorders
      2. Exclusion of known genes using a gene panel with 60 known genes for motor neuron disorders
      3. Whole exome or genome sequencing to identify the underlying pathogenic variant

    Functional analysis of the pathogenic variants in cellular systems and zebrafish or other appropriate models

      C. Osteoporosis: Search for the molecular cause of osteoporosis upon loss of plastin 3
      1. Functional analysis of plastin 3 in the development of the bone by using conditional plastin 3 knock-out mice and transgenic mice overexpressing plastin 3
      2. Functional analysis of the effect of plastin 3 overexpression on other bone disorders.


      Further information


      Current funding

      Deutsche Forschungsgemeinschaft (DFG)

      EU-FP7 Projekt "Neuromics"

      Center for Molecular Medicine Cologne (CMMC)



      SMA support in Germany and Europe

      Initiative Forschung und Therapie für SMA

      Deutsche Gesellschaft für Muskelkranke




      SMA support groups in the U.S.

      Families of SMA

      SMA Foundation

      Andrew´s Buddies Corporation/fight SMA


        Publications: google scholar


          Publications since 2011


          Neugebauer J, Heilig J, Hosseinibarkooie S, Ross BC, Mendoza-Ferreira N, Nolte F, Peters M, Hölker I, Hupperich K, Tschanz T, Grysko V, Zaucke F, Niehoff A, Wirth B.
          Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
          Hum Mol Genet. 2018 Dec 15;27(24):4249-4262. doi: 10.1093/hmg/ddy318.

          PubMed PMID: 30204862

          Shorrock HK, van der Hoorn D, Boyd PJ, Llavero Hurtado M, Lamont DJ, Wirth B, Sleigh JN, Schiavo G, Wishart TM, Groen EJN, Gillingwater TH.
          UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy.
          Brain. 2018 Oct 1;141(10):2878-2894. doi: 10.1093/brain/awy237.

          PubMed PMID: 30239612

          Strathmann EA, Peters M, Hosseinibarkooie S, Rigo FW, Bennett CF, Zaworski PG, Chen KS, Nothnagel M, Wirth B.
          Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.
          PLoS One. 2018 Sep 6;13(9):e0203398. doi: 10.1371/journal.pone.0203398. eCollection 2018.

          PubMed PMID: 30188931

          Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
          Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9.

          PubMed PMID: 30100084

          Janzen E, Mendoza-Ferreira N, Hosseinibarkooie S, Schneider S, Hupperich K, Tschanz T, Grysko V, Riessland M, Hammerschmidt M, Rigo F, Bennett CF, Kye MJ, Torres-Benito L, Wirth B.
          CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.
          Brain. 2018 Aug; 141(8): 2343–2361. Published online 2018 Jun 28. doi: 10.1093/brain/awy167

          PubMed PMID: 29961886

          Karakaya M, Storbeck M, Strathmann EA, Vedove AD, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B.
          Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
          Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25.

          PubMed PMID: 29858556

          Gonçalves IDCG,Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ.
          Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
          Sci Rep. 2018 May 21;8(1):7907. doi: 10.1038/s41598-018-26347-y. Erratum in: Sci Rep. 2018 Jul 3;8(1):10294.

          PubMed PMID: 29784949

          Martinez Carrera LA, Gabriel E, Donohoe CD, Hölker I, Mariappan A, Storbeck M, Uhlirova M, Gopalakrishnan J, Wirth B.
          Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
          Hum Mol Genet. 2018 May 15;27(10):1772-1784. doi: 10.1093/hmg/ddy086.

          PubMed PMID: 29528393

          Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B.
          Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
          Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb.

          PubMed PMID: 29379881

          Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group.
          Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
          Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.

          PubMedPMID: 29305137

          Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group.
          Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
          Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.

          PubMed PMID: 29290580




          Diao Y, Cui L, Chen Y, Burbridge TJ, Han W, Wirth B, Sestan N, Crair MC, Zhang J.
          Reciprocal Connections Between Cortex and Thalamus Contribute to Retinal Axon Targeting to Dorsal Lateral Geniculate Nucleus.
          Cereb Cortex. 2017;10:1-15.

          PubMed PMID: 28334242

          Finkel RS, Sejersen T, Mercuri E
          ENMC SMA Workshop Study Group (incl. Wirth B). 218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden
          The Netherlands, 19-21 February 2016.
          Neuromuscul Disord. 2017;27(6):596-605.

          PubMed PMID: 28392274

          Hosseinibarkooie S, Schneider S, Wirth B.
          Advances in understanding the role of disease-associated proteins in spinal muscular atrophy.
          Expert Rev Proteomics. 2017;14(7):581-592.

          PubMed PMID: 28635376

          Karakaya M*, Mazaheri N*, Polat I*, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bönnemann CG, Yis U, Wirth B.
          Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
          Brain. 2017;140(10):e65.

          PubMed PMID: 28969388

          Karakaya M, Yilmaz S, Storbeck M, Hoelker I, Heller R, Serdaroglu G, Gökben S, Yis U, Wirth B.
          PRUNE1: a disease-causing gene for secondary microcephaly.
          Brain. 2017;140(10):e61

          PubMed PMID: 28969376

          Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ;
          Project Cure SMA Investigator's Network. Clinical trial of L-carnitine and valproic acid in spinal muscular atrophy type I.
          Muscle Nerve. 2017

          PubMed PMID: 28833236

          Rademacher S, Verheijen BM, Hensel N, Peters M, Bora G, Brandes G, Vieira de Sá R, Heidrich N, Fischer S, Brinkmann H, van der Pol WL, Wirth B, Pasterkamp RJ, Claus P.
          Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA).
          Hum Mol Genet. 2017;26(20):3946-3959.

          PubMed PMID: 29016853

          Riessland M*, Kaczmarek A*, Schneider S*, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B.
          Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
          Am J Hum Genet. 2017;100(2):297-315.

          PubMed PMID: 28132687

          Salpietro V*, Lin W*, Delle Vedove A*, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar S, Pitt M, Bello O, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H.
          Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
          Ann Neurol. 2017 Apr;81(4):597-603

          PubMed PMID: 28253535

          Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B.
          Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
          Eur J Hum Genet. 2017;25(9):1040-1048.

          PubMed PMID: 28635954


          Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M.
          Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
          Neurology. 2016 Oct 26. [Epub ahead of print]

          PubMed PMID: 27784775

          Delle Vedove A.*, Storbeck M.*, Heller R., Hölker I., Hebbar M., Shukla A., Magnusson O., Cirak S., Girisha K.M., O’Driscoll M., Loeys B. and Wirth B.
          Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis and scoliosis.
          Am J Hum Genet. 2016 Dec 1;99(6): 1406-1408

          PubMed PMID: 27843126

          Hosseinibarkooie S*, Peters M*, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B.
          The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
          Am J Hum Genet. 2016 Sep 1;99(3):647-65.
          PubMed PMID: 27499521

          Highlight and FREE featured article AJHG

          Heesen L*, Peitz M*, Torres-Benito L, Hölker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SM, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B.
          Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
          Cell Mol Life Sci. 2016 May;73(10):2089-104

          PubMed PMID: 26573968


          Finkel R, Bertini E, Muntoni F, Mercuri E; ENMC SMA Workshop Study Group (including Wirth B).
          209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.
          Neuromuscul Disord. 2015 Jul;25(7):593-602.

          PubMed PMID:26045156

          Giannopoulou EZ, Martin T, Wirth B, Yilmaz U, Gortner L, Meyer S.
          Tongue fasciculations in an infant with spinal muscular atrophy type 1.
          Clin Case Rep. 2015 Oct;3(10):832-4.

          PubMed PMID: 26509018

          Rahe J, Becker J, Fink GR, Kessler J, Kukolja J, Rahn A, Rosen JB, Szabados F, Wirth B, Kalbe E.
          Cognitive training with and without additional physical activity in healthy older adults: cognitive effects, neurobiological mechanisms, and prediction of training success.
          Front Aging Neurosci. 2015;7(187).

          PubMed PMID: 26528177

          Martinez-Carrera L, Wirth B.
          Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
          Front Neurosci. 2015;9(401).

          PubMed PMID: 23664116

          Kaczmarek A, Schneider S, Wirth B, Riessland M.
          Investigational therapies for the treatment of spinal muscular atrophy.
          Expert OpinInvestig Drugs. 2015;24(7):867-81.

          PubMed PMID: 25911060

          Wirth B, Barkats M, Martinat C, Sendtner M, Gillingwater TH.
          Moving towards treatments for spinal muscular atrophy: hopes and limits.
          Expert OpinEmerg Drugs. 2015;28:1-4.

          PubMed PMID: 25920617

          Zheng X, Reho JJ, Wirth B, Fisher SA.
          TRA2β controls Mypt1 exon 24 splicing in the developmental maturation of mouse mesenteric artery smooth muscle.
          Am J Physiol Cell Physiol. 2015 Feb 15;308(4):C289-96.

          PubMed PMID: 25428883


          Komlósi K, Hadzsiev K, Garbes L, Martínez Carrera LA, Pál E, Sigurðsson JH, Magnusson O, Melegh B, Wirth B.
          Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy
          Neuromuscul Disord. 2014 Feb;24(2):156-61. doi: 10.1016/j.nmd.2013.10.010. Epub 2013 Nov 11.

          PubMed PMID:24300783

          Wishart TM*, Mutsaers CA*, Riessland M*, Reimer MM*, Hunter G*, Hannam ML, Eaton SL, Fuller HR, Roche SL, Somers E, Morse R, Young PJ, Lamont DJ, Hammerschmidt M, Joshi A, Hohenstein P, Morris GE, Parson SH, Skehel PA, Becker T, Robinson IM, Becker CG, Wirth B, Gillingwater TH.
          Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy.
          J Clin Invest. 2014 Apr 1;124(4):1821-34. doi: 10.1172/JCI71318. Epub 2014 Mar 3.

          PubMed PMID: 24590288

          Kye MJ, Niederst ED, Wertz MH, Gonçalves ID, Akten B, Dover KZ, Peters M, Riessland M, Neveu P, Wirth B, Kosik KS, Sardi SP, Monani UR, Passini MA, Sahin M.
          SMN regulates axonal local translation via miR-183/mTOR pathway.
          Hum Mol Genet. 2014 Dec 1;23(23):6318-31

          PubMed PMID: 25055867

          Synofzik M, Martinez-Carrera LA, Lindig T, Schöls L, Wirth B.
          Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.
          J Neurol Neurosurg Psychiatry. 2014 May;85(5):590-2

          PubMed PMID: 24336790

          Roberts JM, Ennajdaoui H, Edmondson C, Wirth B, Sanford J, Chen B.
          Splicing factor TRA2B is required for neural progenitor survival.
          J Comp Neurol. 2014 Feb 1;522(2):372-92. doi: 10.1002/cne.23405
          PubMed  PMID: 23818142

          Lohkamp LN, Au Kv, Goebel HH, Kress W, Grieben U, Drossel K, Garbes L, Wirth B, Heppner FL, Stenzel W.
          A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene.

          J Child Neurol. 2014 Feb;29(2):254-9. doi: 10.1177/0883073813511858. Epub 2013 Dec 11.
          PubMed PMID: 24334346

          Powis RA, Mutsaers CA, Wishart TM, Hunter G, Wirth B, Gillingwater TH.
          Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target.
          Neuropathol Appl Neurobiol. 2014 Dec;40(7):873-87. doi: 10.1111/nan.12168.

          PubMed PMID: 25041530

          Markus Storbeck, Kristina Hupperich, John Antonydas Gaspar, Kesavan Meganathan, Lilian Martínez Carrera, Radu Wirth, Agapios Sachinidis, Brunhilde Wirth

          Neuronal-Specific Deficiency of the Splicing Factor Tra2b Causes Apoptosis in Neurogenic Areas of the Developing Mouse Brain
          PLOS ONE, 2014 Feb 19;9(2):e89020.
          PubMed PMID: 24586484


          van Dijk FS*, Zillikens MC*, Micha D*, Riessland M*, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G.
          PLS3 mutations in X-linked osteoporosis with fractures.
          N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2.
          PubMed PMID: 24088043

          Krosschell KJ, Maczulski JA, Scott C, King W, Hartman JT, Case LE, Viazzo-Trussell D, Wood J, Roman CA, Hecker E, Meffert M, Léveillé M, Kienitz K, Swoboda KJ; Project Cure SMA Investigators Network. Collaborators: Swoboda KJ, Acsadi G, Crawford T, D'Anjou G, Elsheik B, Kissel JT, Kishnani P, Krosschell KJ, LaSalle B, Reyna SP, Schroth MK, Scott C, Simard LR, Smith EC, Wirth B, von Kleist-Retzow JC.
          Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.
          Pediatr Phys Ther. 2013 Summer;25(2):140-8; discussion 149. doi: 10.1097/PEP.0b013e31828a205f.
          PubMed PMID: 23542189

          Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJM, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.
          Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy.
          Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.
          PubMed PMID: 23664116

          Somers E, Riessland M, Schreml J, Wirth B, Gillingwater TH, Parson SH.
          Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy.
          Neurosci Lett. 2013 Jun 7;544:100-4. doi: 10.1016/j.neulet.2013.03.052. Epub 2013 Apr 10.
          PubMed PMID: 23583590

          Wirth B, Garbes L Riessland M
          How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches.
          Curr Opin Genet Dev. 2013 Jun;23(3):330-8. doi: 10.1016/j.gde.2013.03.003. Epub 2013 Apr 17.
          PubMed PMID: 23602330

          Garbes L, Riessland M, Wirth B.
          Histone acetylation as a potential therapeutic target in motor neuron degenerative diseases.
          Curr Pharm Des. 2013;19(28):5093-104.
          PubMed PMID: 23448465

          Ackermann B, Kröber S, Torres-Benito L, Borgmann A, Peters M, Barkooie SM, Tejero R, Jakubik M, Schreml J, Milbradt J, Wunderlich TF, Riessland M, Tabares L, Wirth B.
          Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.
          Hum Mol Genet. 2013 Apr 1;22(7):1328-47. doi: 10.1093/hmg/dds540. Epub 2012 Dec 20.
          PubMed PMID: 23263861

          Schreml J, Riessland M, Paterno M, Garbes L, Roßbach K, Ackermann B, Krämer J, Somers E, Parson SH, Heller R, Berkessel A, Sterner-Kock A, Wirth B.
          Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
          Eur J Hum Genet. 2013 Jun;21(6):643-52. doi: 10.1038/ejhg.2012.222. Epub 2012 Oct 17.
          PubMed PMID: 23073311

          Garbes L, Heesen L, Hölker I, Bauer T, Schreml J, Zimmermann K, Thoenes M, Walter M, Dimos J, Peitz M, Brüstle O, Heller R, Wirth B.
          VPA response in SMA is suppressed by the fatty acid translocase CD36.
          Hum Mol Genet. 2013 Jan 15;22(2):398-407. doi: 10.1093/hmg/dds437. Epub 2012 Oct 16.

          PubMed PMID: 23077215


          Fu K, Mende Y, Bhetwal BP, Baker S, Perrino BA, Wirth B, Fisher SA.
          Tra2β protein is required for tissue-specific splicing of a smooth muscle myosin phosphatase targeting subunit alternative exon.
          J Biol Chem. 2012 May 11;287(20):16575-85. Epub 2012 Mar 21.
          PubMed PMID: 22437831

          Semler O*, Garbes L*, Keupp K*, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C.
          A Mutation in the 5'-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus.
          Am J Hum Genet. 2012 Aug 10;91(2):349-57. Epub 2012 Aug 2.
          PubMed PMID: 22863195


          Grellscheid S*, Dalgliesh C*, Storbeck M*, Best A, Liu Y, Jakubik M, Mende Y, Ehrmann I, Curk T, Rossbach K, Bourgeois CF, Stévenin J, Grellscheid D, Jackson MS, Wirth B, Elliott DJ.
          Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development.
          PLoS Genet. 2011 Dec;7(12):e1002390. doi: 10.1371/journal.pgen.1002390. Epub 2011 Dec 15.
          PubMed PMID: 22194695

          Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, Al Rayes S, Hensel N, Schill Y, Apkhazava D, Jablonka S, O'mer J, Srivastav RK, Baasner A, Lingor P, Wirth B, Ponimaskin E, Niedenthal R, Grothe C, Claus P.
          The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
          Hum Mol Genet. 2011 Dec 15;20(24):4865-78. Epub 2011 Sep 14.
          PubMed PMID: 21920940

          Mutsaers CA, Wishart TM, Lamont DJ, Riessland M, Schreml J, Comley LH, Murray LM, Parson SH, Lochmüller H, Wirth B, Talbot K, Gillingwater TH.
          Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
          Hum Mol Genet. 2011;20(22):4334-44.
          PubMed PMID: 21840928

          Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.
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