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Πλοήγηση ανά Θέμα "RNA Splicing"

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    • 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 ...

    • Dual IRE1 RNase functions dictate glioblastoma development 

      Lhomond S., Avril T., Dejeans N., Voutetakis K., Doultsinos D., McMahon M., Pineau R., Obacz J., Papadodima O., Jouan F., Bourien H., Logotheti M., Jégou G., Pallares-Lupon N., Schmit K., Le Reste P.-J., Etcheverry A., Mosser J., Barroso K., Vauléon E., Maurel M., Samali A., Patterson J.B., Pluquet O., Hetz C., Quillien V., Chatziioannou A., Chevet E. (2018)
      Proteostasis imbalance is emerging as a major hallmark of cancer, driving tumor aggressiveness. Evidence suggests that the endoplasmic reticulum (ER), a major site for protein folding and quality control, plays a critical ...

    • Evidence for disulfide bonds in SR Protein Kinase 1 (SRPK1) that are required for activity and nuclear localization 

      Koutroumani M., Papadopoulos G.E., Vlassi M., Nikolakaki E., Giannakouros T. (2017)
      Serine/arginine protein kinases (SRPKs) phosphorylate Arg/Ser dipeptide-containing proteins that play crucial roles in a broad spectrum of basic cellular processes. The existence of a large internal spacer sequence that ...

    • 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 ...