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Πλοήγηση ανά Θέμα "RNA splicing"

Αποτελέσματα 1-7 από 7

    • 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 ...

    • Solving the transcription start site identification problem with ADAPT-CAGE: a Machine Learning algorithm for the analysis of CAGE data 

      Georgakilas G.K., Perdikopanis N., Hatzigeorgiou A. (2020)
      Cap Analysis of Gene Expression (CAGE) has emerged as a powerful experimental technique for assisting in the identification of transcription start sites (TSSs). There is strong evidence that CAGE also identifies capping ...

    • Tales around the clock: Poly(A) tails in circadian gene expression 

      Beta R.A.A., Balatsos N.A.A. (2018)
      Circadian rhythms are ubiquitous time-keeping processes in eukaryotes with a period of ~24 hr. Light is perhaps the main environmental cue (zeitgeber) that affects several aspects of physiology and behaviour, such as ...

    • 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 ...