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Pregled bibliografske jedinice broj: 1151732

Germline AGO2 mutations impair RNA interference and human neurological development

Lessel, Davor; Zeitler, Daniela M.; Reijnders, Margot R. F.; Kazantsev, Andriy; Fatemeh Hassani, Nia; Bartholomäus, Alexander; Martens, Victoria; Bruckmann, Astrid; Graus, Veronika; McConkie- Rosell, Allyn et al.
Germline AGO2 mutations impair RNA interference and human neurological development // Nature communications, 11 (2020), 5797, 14 doi:10.1038/s41467-020-19572-5 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1151732 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Germline AGO2 mutations impair RNA interference and human neurological development

Autori
Lessel, Davor ; Zeitler, Daniela M. ; Reijnders, Margot R. F. ; Kazantsev, Andriy ; Fatemeh Hassani, Nia ; Bartholomäus, Alexander ; Martens, Victoria ; Bruckmann, Astrid ; Graus, Veronika ; McConkie- Rosell, Allyn ; McDonald, Marie ; Lozic, Bernarda ; Tan, Ee-Shien ; Gerkes, Erica ; Johannsen, Jessika ; Denecke, Jonas ; Telegrafi, Aida ; Zonneveld- Huijssoon, Evelien ; Lemmink, Henny H. ; Cham, Breana W. M. ; Kovacevic, Tanja ; Ramsdell, Linda ; Foss, Kimberly ; Le Duc, Diana ; Mitter, Diana ; Syrbe, Steffen ; Merkenschlager, Andreas ; Sinnema, Margje ; Panis, Bianca ; Lazier, Joanna ; Osmond, Matthew ; Hartley, Taila ; Mortreux, Jeremie ; Busa, Tiffany ; Missirian, Chantal ; Prasun, Pankaj ; Lüttgen, Sabine ; Mannucci, Ilaria ; Lessel Ivana ; Schob, Claudia ; Kindler, Stefan ; Pappas, John ; Rabin, Rachel ; Willemsen, Marjolein ; Gardeitchik, Thatjana ; Löhner, Katharina ; Rump, Patrick ; Dias, Kerith- Rae ; Evans, Carey-Anne ; Andrews, Peter Ian ; Roscioli, Tony ; Brunner. Han G. ; Chijiwa, Chieko ; Lewis, M. E. Suzanne ; Jamra, Rami Abou ; Dyment, David A. ; Boycott, Kym M. ; Stegmann, Alexander P. A. ; Kubisch, Christian ; Tan, Ene- Choo ; Mirzaa, Ghayda M. ; McWalter, Kirsty ; Kleefstra, Tjitske ; Pfundt, Rolph ; Ignatova, Zoya ; Meister, Gunter ; Kreienkamp, Hans-Jürgen.

Izvornik
Nature communications (2041-1723) 11 (2020); 5797, 14

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
ARGONAUTE-2, ARGONAUTE-2

Sažetak
ARGONAUTE-2 and associated miRNAs form the RNA- induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Despite the essential nature of this process for cellular function, there is little information on the role of RISC components in human development and organ function. We identify 13 heterozygous mutations in AGO2 in 21 patients affected by disturbances in neurological development. Each of the identified single amino acid mutations result in impaired shRNA-mediated silencing. We observe either impaired RISC formation or increased binding of AGO2 to mRNA targets as mutation specific functional consequences. The latter is supported by decreased phosphorylation of a C-terminal serine cluster involved in mRNA target release, increased formation of dendritic P-bodies in neurons and global transcriptome alterations in patient-derived primary fibroblasts. Our data emphasize the importance of gene expression regulation through the dynamic AGO2-RNA association for human neuronal development

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
KBC Split,
Medicinski fakultet, Split

Profili:

Avatar Url Bernarda Lozić (autor)

Avatar Url Tanja Kovačević (autor)

Poveznice na cjeloviti tekst rada:

Pristup cjelovitom tekstu rada doi www.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

Lessel, Davor; Zeitler, Daniela M.; Reijnders, Margot R. F.; Kazantsev, Andriy; Fatemeh Hassani, Nia; Bartholomäus, Alexander; Martens, Victoria; Bruckmann, Astrid; Graus, Veronika; McConkie- Rosell, Allyn et al.
Germline AGO2 mutations impair RNA interference and human neurological development // Nature communications, 11 (2020), 5797, 14 doi:10.1038/s41467-020-19572-5 (međunarodna recenzija, članak, znanstveni)
Lessel, D., Zeitler, D., Reijnders, M., Kazantsev, A., Fatemeh Hassani, N., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V. & McConkie- Rosell, A. (2020) Germline AGO2 mutations impair RNA interference and human neurological development. Nature communications, 11, 5797, 14 doi:10.1038/s41467-020-19572-5.
@article{article, author = {Lessel, Davor and Zeitler, Daniela M. and Reijnders, Margot R. F. and Kazantsev, Andriy and Fatemeh Hassani, Nia and Bartholom\"{a}us, Alexander and Martens, Victoria and Bruckmann, Astrid and Graus, Veronika and McConkie- Rosell, Allyn and McDonald, Marie and Lozic, Bernarda and Tan, Ee-Shien and Gerkes, Erica and Johannsen, Jessika and Denecke, Jonas and Telegrafi, Aida and Zonneveld- Huijssoon, Evelien and Lemmink, Henny H. and Cham, Breana W. M. and Kovacevic, Tanja and Ramsdell, Linda and Foss, Kimberly and Le Duc, Diana and Mitter, Diana and Syrbe, Steffen and Merkenschlager, Andreas and Sinnema, Margje and Panis, Bianca and Lazier, Joanna and Osmond, Matthew and Hartley, Taila and Mortreux, Jeremie and Busa, Tiffany and Missirian, Chantal and Prasun, Pankaj and L\"{u}ttgen, Sabine and Mannucci, Ilaria and Schob, Claudia and Kindler, Stefan and Pappas, John and Rabin, Rachel and Willemsen, Marjolein and Gardeitchik, Thatjana and L\"{o}hner, Katharina and Rump, Patrick and Dias, Kerith- Rae and Evans, Carey-Anne and Andrews, Peter Ian and Roscioli, Tony and Chijiwa, Chieko and Lewis, M. E. Suzanne and Jamra, Rami Abou and Dyment, David A. and Boycott, Kym M. and Stegmann, Alexander P. A. and Kubisch, Christian and Tan, Ene- Choo and Mirzaa, Ghayda M. and McWalter, Kirsty and Kleefstra, Tjitske and Pfundt, Rolph and Ignatova, Zoya and Meister, Gunter and Kreienkamp, Hans-J\"{u}rgen.}, year = {2020}, pages = {14}, DOI = {10.1038/s41467-020-19572-5}, chapter = {5797}, keywords = {ARGONAUTE-2, ARGONAUTE-2}, journal = {Nature communications}, doi = {10.1038/s41467-020-19572-5}, volume = {11}, issn = {2041-1723}, title = {Germline AGO2 mutations impair RNA interference and human neurological development}, keyword = {ARGONAUTE-2, ARGONAUTE-2}, chapternumber = {5797} }
@article{article, author = {Lessel, Davor and Zeitler, Daniela M. and Reijnders, Margot R. F. and Kazantsev, Andriy and Fatemeh Hassani, Nia and Bartholom\"{a}us, Alexander and Martens, Victoria and Bruckmann, Astrid and Graus, Veronika and McConkie- Rosell, Allyn and McDonald, Marie and Lozic, Bernarda and Tan, Ee-Shien and Gerkes, Erica and Johannsen, Jessika and Denecke, Jonas and Telegrafi, Aida and Zonneveld- Huijssoon, Evelien and Lemmink, Henny H. and Cham, Breana W. M. and Kovacevic, Tanja and Ramsdell, Linda and Foss, Kimberly and Le Duc, Diana and Mitter, Diana and Syrbe, Steffen and Merkenschlager, Andreas and Sinnema, Margje and Panis, Bianca and Lazier, Joanna and Osmond, Matthew and Hartley, Taila and Mortreux, Jeremie and Busa, Tiffany and Missirian, Chantal and Prasun, Pankaj and L\"{u}ttgen, Sabine and Mannucci, Ilaria and Schob, Claudia and Kindler, Stefan and Pappas, John and Rabin, Rachel and Willemsen, Marjolein and Gardeitchik, Thatjana and L\"{o}hner, Katharina and Rump, Patrick and Dias, Kerith- Rae and Evans, Carey-Anne and Andrews, Peter Ian and Roscioli, Tony and Chijiwa, Chieko and Lewis, M. E. Suzanne and Jamra, Rami Abou and Dyment, David A. and Boycott, Kym M. and Stegmann, Alexander P. A. and Kubisch, Christian and Tan, Ene- Choo and Mirzaa, Ghayda M. and McWalter, Kirsty and Kleefstra, Tjitske and Pfundt, Rolph and Ignatova, Zoya and Meister, Gunter and Kreienkamp, Hans-J\"{u}rgen.}, year = {2020}, pages = {14}, DOI = {10.1038/s41467-020-19572-5}, chapter = {5797}, keywords = {ARGONAUTE-2, ARGONAUTE-2}, journal = {Nature communications}, doi = {10.1038/s41467-020-19572-5}, volume = {11}, issn = {2041-1723}, title = {Germline AGO2 mutations impair RNA interference and human neurological development}, keyword = {ARGONAUTE-2, ARGONAUTE-2}, chapternumber = {5797} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE
  • Nature Index

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