• Cell environment shapes TDP-43 function with implications in neuronal and muscle disease 

      Šušnjar U., Škrabar N., Brown A.-L., Abbassi Y., Phatnani H., Phatnani H., Fratta P., Kwan J., Sareen D., Broach J.R., Simmons Z., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Shneider N.A., Fraenkel E., Ostrow L.W., Baas F., Berry J.D., Butovsky O., Baloh R.H., Shalem O., Heiman-Patterson T., Stefanis L., Chandran S., Pal S., Smith C., Malaspina A., Hammell M.G., Patsopoulos N.A., Dubnau J., Poss M., Zhang B., Zaitlen N., Hornstein E., Miller T.M., Dardiotis E., Bowser R., Menon V., Harms M., Atassi N., Lange D.J., MacGowan D.J., McMillan C., Aronica E., Harris B., Ravits J., Crary J., Thompson L.M., Raj T., Paganoni S., Adams D.J., Babu S., Drory V., Gotkine M., Broce I., Phillips-Cremins J., Nath A., Finkbeiner S., Cox G.A., Cortese A., Cereda C., Bugiardini E., Cardani R., Meola G., Ripolone M., Moggio M., Romano M., Secrier M., Fratta P., Buratti E., NYGC ALS Consortium (2022)
      TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As TDP-43 inclusions have recently been described in the muscle ...
    • Cold shock Y-box protein-1 proteolysis autoregulates its transcriptional activities 

      Van Roeyen, C. R. C.; Scurt, F. G.; Brandt, S.; Kuhl, V. A.; Martinkus, S.; Djudjaj, S.; Raffetseder, U.; Royer, H. D.; Stefanidis, I.; Dunn, S. E.; Dooley, S.; Weng, H.; Fischer, T.; Lindquist, J. A.; Mertens, P. R. (2013)
      Background: The Y-box protein-1 (YB-1) fulfills pleiotropic functions relating to gene transcription, mRNA processing, and translation. It remains elusive how YB-1 shuttling into the nuclear and cytoplasmic compartments ...
    • Granulin a synergizes with cisplatin to inhibit the growth of human hepatocellular carcinoma 

      Qiao G., Xu H., Li C., Li X., Farooqi A.A., Zhao Y., Liu X., Liu M., Stagos D., Lin X. (2018)
      Cisplatin is one of the most potent chemotherapy drugs widely used for cancer treatment. However, due to resistance and toxicity, the application of cisplatin for the treatment of hepatocellular carcinoma (HCC) is limited. ...
    • Human cytomegalovirus (HCMV) UL44 and UL57 specific antibody responses in anti-HCMV-positive patients with systemic sclerosis 

      Marou E., Liaskos C., Simopoulou T., Efthymiou G., Dardiotis E., Katsiari C., Scheper T., Meyer W., Hadjigeorgiou G., Bogdanos D.P., Sakkas L.I. (2017)
      The role of human cytomegalovirus (HCMV) has been postulated as a trigger of systemic sclerosis (SSc). The aim of the study was to assess the prevalence of antibodies against HCMV UL44 and UL57 antigens not tested in the ...
    • Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis 

      Schormair B., Zhao C., Bell S., Tilch E., Salminen A.V., Pütz B., Dauvilliers Y., Stefani A., Högl B., Poewe W., Kemlink D., Sonka K., Bachmann C.G., Paulus W., Trenkwalder C., Oertel W.H., Hornyak M., Teder-Laving M., Metspalu A., Hadjigeorgiou G.M., Polo O., Fietze I., Ross O.A., Wszolek Z., Butterworth A.S., Soranzo N., Ouwehand W.H., Roberts D.J., Danesh J., Allen R.P., Earley C.J., Ondo W.G., Xiong L., Montplaisir J., Gan-Or Z., Perola M., Vodicka P., Dina C., Franke A., Tittmann L., Stewart A.F.R., Shah S.H., Gieger C., Peters A., Rouleau G.A., Berger K., Oexle K., Di Angelantonio E., Hinds D.A., Müller-Myhsok B., Winkelmann J., Balkau B., Ducimetière P., Eschwège E., Rancière F., Alhenc-Gelas F., Gallois Y., Girault A., Fumeron F., Marre M., Roussel R., Bonnet F., Bonnefond A., Cauchi S., Froguel P., Cogneau J., Born C., Caces E., Cailleau M., Lantieri O., Moreau J.G., Rakotozafy F., Tichet J., Vol S., Agee M., Alipanahi B., Auton A., Bell R.K., Bryc K., Elson S.L., Fontanillas P., Furlotte N.A., Hinds D.A., Hromatka B.S., Huber K.E., Kleinman A., Litterman N.K., McIntyre M.H., Mountain J.L., Northover C.A., Pitts S.J., Sathirapongsasuti J.F., Sazonova O.V., Shelton J.F., Shringarpure S., Tian C., Tung J.Y., Vacic V., Wilson C.H., 23andMe Research Team, DESIR study group, 23andMe Research Team, DESIR study group, DESIR study group, DESIR study group (2017)
      Background Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve ...
    • Isolation and characterization of a protein from Mendole (Spicara maena) eggs that binds to DNA and inhibits its replication as well as its acid precipitation 

      Kouretas, D.; Mamuris, Z.; Stamatis, C.; Rodriguez-Burgos, A.; Tsamis, V.; Neofitou, C. (2001)
      Proteins that bind and protect nucleic acids from acid precipitation have been characterized from human and mouse plasma. In the present study one protein from Mendole (Spicara maena) eggs was purified to homogeneity, by ...
    • Risk factor genes in patients with dystonia: A comprehensive review 

      Siokas V., Aloizou A.-M., Tsouris Z., Michalopoulou A., Mentis A.-F.A., Dardiotis E. (2019)
      Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there ...
    • TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A 

      Brown A.-L., Wilkins O.G., Keuss M.J., Hill S.E., Zanovello M., Lee W.C., Bampton A., Lee F.C.Y., Masino L., Qi Y.A., Bryce-Smith S., Gatt A., Hallegger M., Fagegaltier D., Phatnani H., Phatnani H., Kwan J., Sareen D., Broach J.R., Simmons Z., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Shneider N.A., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Miller T.M., Chandran S., Pal S., Hornstein E., MacGowan D.J., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Butovsky O., Dubnau J., Nath A., Bowser R., Harms M., Aronica E., Poss M., Phillips-Cremins J., Crary J., Atassi N., Lange D.J., Adams D.J., Stefanis L., Gotkine M., Baloh R.H., Babu S., Raj T., Paganoni S., Shalem O., Smith C., Zhang B., Harris B., Broce I., Drory V., Ravits J., McMillan C., Menon V., Wu L., Altschuler S., Lerner Y., Sattler R., Van Keuren-Jensen K., Rozenblatt-Rosen O., Lindblad-Toh K., Nicholson K., Gregersen P., Lee J.-H., Kokos S., Muljo S., Newcombe J., Gustavsson E.K., Seddighi S., Reyes J.F., Coon S.L., Ramos D., Schiavo G., Fisher E.M.C., Raj T., Secrier M., Lashley T., Ule J., Buratti E., Humphrey J., Ward M.E., Fratta P., NYGC ALS Consortium (2022)
      Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia1–3, two related neurodegenerative diseases defined by mislocalization of the RNA-binding ...
    • Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism 

      Conlon E.G., Fagegaltier D., Agius P., Davis-Porada J., Gregory J., Hubbard I., Kang K., Kim D., Phatnani H., Shneider N.A., Manley J.L., Kwan J., Sareen D., Broach J.R., Simmons Z., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Miller T.M., Chandran S., Pal S., Hornstein E., Macgowan D.J., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., The New York Genome Center ALS Consortium (2018)
      Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends of a disease spectrum with shared clinical, genetic and pathological features. These include near ubiquitous pathological inclusions ...
    • Α 2-stage, nested-like nucleic acid amplification method (IsoPCR)for the highly sensitive detection of HPV16 and HPV18 DNA 

      Daskou M., Tsakogiannis D., Dimitriou T.G., Manali M., Apti C., Amoutzias G.D., Mossialos D., Kottaridi C., Markoulatos P. (2019)
      Molecular detection of HPV DNA is considered as the gold standard for the diagnosis of cervical disease. Although the molecular assays for the identification of HPV16 and HPV18 have helped identify cervical cancer incidents, ...