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{{Short description|Argentinian geneticist}}
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{{Infobox scientist
| name = Francisco Ernesto (Tito) Baralle
| image = Fransico Dining in Manciano.jpg
| birth_date = {{Birth date|1943|10|26|df=yes}}
| birth_place = [[Buenos Aires]], Argentina
| workplaces = [[University of Oxford]] <br> [[ICGEB]]
| children = 4
}}


'''Francisco Ernesto (Tito) Baralle''' (born 26 October 1943, in [[Buenos Aires]]) is an Argentinian geneticist best known for his innovations in molecular biology and in particular the discovery of how genes are processed and mechanisms in mRNA splicing.<ref name=":0" /><ref name=":1" /><ref name=":2" />
This is for enresto

== Biography ==
Francisco Ernesto (a.k.a. Tito) Baralle was born in [[Buenos Aires]], [[Argentina]] on 26 October 1943. After completing his Ph.D. studies at the Department of Organic Chemistry, he transferred to the Instituto de Investigaciones Bioquimicas Fundacion Campomar directed by Prof. [[Luis F. Leloir]], now the [[Leloir Institute]]. In 1974, he moved to the MRC Laboratory of Molecular Biology, [[Cambridge University]], UK, where he worked in the Division directed by Dr. [[Frederick Sanger]]. From (1980 to 1990), he was University Lecturer of Pathology at [[Oxford University]] and Fellow of [[Magdalen College]]. In 1993, he was awarded the Platinum [[Konex Award]] for Science and Technology (Argentina) as the best scientist of the decade in Genetics and Cytology.

In September 1990, he was appointed Director of the Trieste Component of [[International Centre for Genetic Engineering and Biotechnology]] (ICGEB)[https://www.icgeb.org/francisco-e-baralle/] an autonomous, intergovernmental organisation originally established under [[UNIDO]]. From 2004-2014 he was the Director-General of the institute, overseeing laboratories in 4 continents, spanning 63 countries championing collaboration, scientific education and dissemination of Science and Biotechnology worldwide.

During his 10 year tenure as Director-General, and as well as expanding his medical and scientific research, he was responsible for the establishment of a [https://www.icgeb.org/biotechnology-development/ Biotechnology Development Group] serving as a training hub for researchers of developing countries, transferring biopharmaceutical know-how locally.

He was a strong supporter of the internationalization of science and took the 2-component ([[Italy]] and [[India]]) [[International Centre for Genetic Engineering and Biotechnology]], and expanded it to 4 component institutions, establishing, and opening new centres in [[Africa]] and [[Argentina]], giving opportunities and access to young scientists from the developing world.

== Scientific activity ==

In 1977, and as a staff scientist at the laboratory of molecular biology, [[Cambridge]], Tito published the sequence of the messenger RNA coding for [[beta-globin]],<ref>{{cite journal |last1=Efstratiadis |first1=A |last2=Posakony |first2=JW |last3=Maniatis |first3=T |last4=Lawn |first4=RM |last5=O'Connell |first5=C |last6=Spritz |first6=RA |last7=DeRiel |first7=JK |last8=Forget |first8=BG |last9=Weissman |first9=SM |last10=Slightom |first10=JL |last11=Blechl |first11=AE |last12=Smithies |first12=O |last13=Baralle |first13=FE |last14=Shoulders |first14=CC |last15=Proudfoot |first15=NJ |title=The structure and evolution of the human beta-globin gene family. |journal=Cell |date=October 1980 |volume=21 |issue=3 |pages=653–68 |doi=10.1016/0092-8674(80)90429-8 |pmid=6985477 |s2cid=54326419 |url=https://www.sciencedirect.com/science/article/abs/pii/0092867480904298 |language=en |issn=0092-8674}}</ref> the first complete primary structure of a [[eukaryotic]]<ref>{{cite journal |last1=Baralle |first1=FE |title=The functional significance of leader and trailer sequences in eukaryotic mRNAs. |journal=International Review of Cytology |date=1983 |volume=81 |pages=71–106 |doi=10.1016/s0074-7696(08)62335-9 |pmid=6135669|isbn=9780123644817 }}</ref> [[mRNA]]. In 1979, his research group isolated the gene for epsilon-globin ([[HBE1]]),<ref>{{cite journal |last1=Proudfoot |first1=NJ |last2=Baralle |first2=FE |title=Molecular cloning of human epsilon-globin gene. |journal=Proceedings of the National Academy of Sciences of the United States of America |date=November 1979 |volume=76 |issue=11 |pages=5435–9 |doi=10.1073/pnas.76.11.5435 |pmid=160554|pmc=411663 |doi-access=free }}</ref> a component of human [[embryonic hemoglobin]]. He was one of the first to describe the pre-mRNA [[Alternative splicing|alternative splicing process]] in the 1980s.<ref name=":2">{{Cite journal|last1=Mardon|first1=H. J.|last2=Sebastio|first2=G.|last3=Baralle|first3=F. E.|date=1987-10-12|title=A role for exon sequences in alternative splicing of the human fibronectin gene|journal=Nucleic Acids Research|volume=15|issue=19|pages=7725–7733|doi=10.1093/nar/15.19.7725|issn=0305-1048|pmc=306303|pmid=3671064}}</ref><ref>{{Cite journal|last1=Kornblihtt|first1=A. R.|last2=Vibe-Pedersen|first2=K.|last3=Baralle|first3=F. E.|date=1984-07-25|title=Human fibronectin: cell specific alternative mRNA splicing generates polypeptide chains differing in the number of internal repeats|journal=Nucleic Acids Research|volume=12|issue=14|pages=5853–5868|doi=10.1093/nar/12.14.5853|issn=0305-1048|pmc=320036|pmid=6462919}}</ref><ref name=":1">{{Cite journal|last1=Paolella|first1=G.|last2=Henchcliffe|first2=C.|last3=Sebastio|first3=G.|last4=Baralle|first4=F. E.|date=1988-04-25|title=Sequence analysis and in vivo expression show that alternative splicing of ED-B and ED-A regions of the human fibronectin gene are independent events|journal=Nucleic Acids Research|volume=16|issue=8|pages=3545–3557|doi=10.1093/nar/16.8.3545|issn=0305-1048|pmc=336511|pmid=3375063}}</ref><ref>{{Cite journal|last1=Zardi|first1=L.|last2=Carnemolla|first2=B.|last3=Siri|first3=A.|last4=Petersen|first4=T. E.|last5=Paolella|first5=G.|last6=Sebastio|first6=G.|last7=Baralle|first7=F. E.|date=August 1987|title=Transformed human cells produce a new fibronectin isoform by preferential alternative splicing of a previously unobserved exon|journal=The EMBO Journal|volume=6|issue=8|pages=2337–2342|doi=10.1002/j.1460-2075.1987.tb02509.x|issn=0261-4189|pmc=553637|pmid=2822387}}</ref><ref>{{Cite journal|last1=Barone|first1=M. V.|last2=Henchcliffe|first2=C.|last3=Baralle|first3=F. E.|last4=Paolella|first4=G.|date=April 1989|title=Cell type specific trans-acting factors are involved in alternative splicing of human fibronectin pre-mRNA|journal=The EMBO Journal|volume=8|issue=4|pages=1079–1085|doi=10.1002/j.1460-2075.1989.tb03476.x|issn=0261-4189|pmc=400917|pmid=2545440}}</ref>

His studies on how genes are processed described the first sequences within [[exons]] that control splicing, [[exonic splicing enhancer]] (ESE)<ref name=":2"/><ref>{{Cite journal|last1=Muro|first1=A. F.|last2=Iaconcig|first2=A.|last3=Baralle|first3=F. E.|date=1998-10-16|title=Regulation of the fibronectin EDA exon alternative splicing. Cooperative role of the exonic enhancer element and the 5' splicing site|url=https://pubmed.ncbi.nlm.nih.gov/9804187|journal=FEBS Letters|volume=437|issue=1–2|pages=137–141|doi=10.1016/s0014-5793(98)01201-0|issn=0014-5793|pmid=9804187|s2cid=7904127}}</ref> and has since made critical contributions to understanding the molecular mechanisms involved in this important cellular process in health and disease. He first identified the protein called [[TDP 43]],<ref name=":0">{{Cite journal|last1=Buratti|first1=E.|last2=Baralle|first2=F. E.|date=2001-09-28|title=Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9|journal=The Journal of Biological Chemistry|volume=276|issue=39|pages=36337–36343|doi=10.1074/jbc.M104236200|issn=0021-9258|pmid=11470789|doi-access=free}}</ref><ref>{{Cite journal|last1=Buratti|first1=E.|last2=Dörk|first2=T.|last3=Zuccato|first3=E.|last4=Pagani|first4=F.|last5=Romano|first5=M.|last6=Baralle|first6=F. E.|date=2001-04-02|title=Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping|journal=The EMBO Journal|volume=20|issue=7|pages=1774–1784|doi=10.1093/emboj/20.7.1774|issn=0261-4189|pmc=145463|pmid=11285240}}</ref> that is now known to play a central role in certain neurodegenerative disorders ([[Frontotemporal lobar degeneration]], [[Amyotrophic lateral sclerosis]] and [[Alzheimer disease]]). Tito Baralle is a leader and innovator in molecular biology and in particular the discovery of how genes are processed and mechanisms in mRNA splicing.

== Honors and awards ==
* 2014 Doctor Honoris Causae of the Faculty of Medicine [[Universidad de la Republica]], [[Montevideo, Uruguay]]
* 2010 [[University of Nova Gorica]], Slovenia Golden Plate Award for his work on international scientific collaboration. Full Professor of [[Molecular biology|Molecular Biology]]
* 2010 Premio Raices, granted very selectively by the Minister of Science and Technology of Argentina for promotion of scientific education in [[Argentina]]
* 2010 Fellow of the Academy of Sciences for the Developing World-TWAS for the advancement of science in the developing world<ref>{{Cite news|title=Premian a científicos destacados|newspaper=La Nación|url=https://www.lanacion.com.ar/ciencia/premian-a-cientificos-destacados-nid1326176/}}</ref>
* 2001 Fellow National Academy of Sciences of Argentina<ref>{{Cite web|date=2007-09-20|title=Bienvenido a la Academia Nacional de Ciencias — Academia Nacional de Ciencias|url=http://www.acad.uncor.edu/|access-date=2021-06-10|archive-url=https://web.archive.org/web/20070920173427/http://www.acad.uncor.edu/|archive-date=20 September 2007}}</ref>
* 1999 Visiting Professor [[University of Trieste]]
* 1993 Premio Konex de Platino,<ref>{{Cite web|last=Factory|first=Troop Software|title=Fundación Konex|url=https://www.fundacionkonex.org/|access-date=2021-06-10|website=www.fundacionkonex.org|language=es}}</ref> Konex Foundation Platinum prize in Science and technology, awarded to best scientist of the decade in Genetic and Cytology.
* 1993 [[Konex Foundation]] Merit Diploma in Science and Technology
* 1993 Honorary Professor of Biochemistry at the Faculty of Sciences, [[University of Buenos Aires]]
* 1980 Member of the European Molecular Biology Organization ([[European Molecular Biology Organization|EMBO]])

== Scientific publications ==
Tito has over 200 scientific publications,<ref>{{Cite web|title=baralle fe - Search Results - PubMed|url=https://pubmed.ncbi.nlm.nih.gov/?term=baralle+fe&sort=date|access-date=2021-06-10|website=PubMed|language=en}}</ref> some of his most cited are:

* "The Structure and evolution of the human b-globin gene family"<ref>{{Cite journal|last1=Efstratiadis|first1=A.|last2=Posakony|first2=J. W.|last3=Maniatis|first3=T.|last4=Lawn|first4=R. M.|last5=O'Connell|first5=C.|last6=Spritz|first6=R. A.|last7=DeRiel|first7=J. K.|last8=Forget|first8=B. G.|last9=Weissman|first9=S. M.|last10=Slightom|first10=J. L.|last11=Blechl|first11=A. E.|date=October 1980|title=The structure and evolution of the human beta-globin gene family|url=https://pubmed.ncbi.nlm.nih.gov/6985477|journal=Cell|volume=21|issue=3|pages=653–668|doi=10.1016/0092-8674(80)90429-8|issn=0092-8674|pmid=6985477|s2cid=54326419}}</ref>
* “TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis”<ref>{{Cite journal|last1=Sreedharan|first1=Jemeen|last2=Blair|first2=Ian P.|last3=Tripathi|first3=Vineeta B.|last4=Hu|first4=Xun|last5=Vance|first5=Caroline|last6=Rogelj|first6=Boris|last7=Ackerley|first7=Steven|last8=Durnall|first8=Jennifer C.|last9=Williams|first9=Kelly L.|last10=Buratti|first10=Emanuele|last11=Baralle|first11=Francisco|date=2008-03-21|title=TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis|journal=Science|volume=319|issue=5870|pages=1668–1672|doi=10.1126/science.1154584|issn=1095-9203|pmc=7116650|pmid=18309045|bibcode=2008Sci...319.1668S}}</ref>
* "Primary structure of human fibronectin: Differential splicing may generate at least 10 polypeptides from a single gene"<ref>{{Cite journal|last1=Kornblihtt|first1=A. R.|last2=Umezawa|first2=K.|last3=Vibe-Pedersen|first3=K.|last4=Baralle|first4=F. E.|date=July 1985|title=Primary structure of human fibronectin: differential splicing may generate at least 10 polypeptides from a single gene|journal=The EMBO Journal|volume=4|issue=7|pages=1755–1759|doi=10.1002/j.1460-2075.1985.tb03847.x|issn=0261-4189|pmc=554414|pmid=2992939}}</ref>
* “Genomic variants in exons and introns: identifying the splicing spoilers”<ref>{{Cite journal|last1=Pagani|first1=Franco|last2=Baralle|first2=Francisco E.|date=May 2004|title=Genomic variants in exons and introns: identifying the splicing spoilers|url=https://pubmed.ncbi.nlm.nih.gov/15168696|journal=Nature Reviews. Genetics|volume=5|issue=5|pages=389–396|doi=10.1038/nrg1327|issn=1471-0056|pmid=15168696|s2cid=1453186}}</ref>
* “Characterisation and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR Exon 9”<ref name=":0"/>

== References ==

{{reflist}}

{{Authority control}}

{{DEFAULTSORT:Baralle, Francisco Ernesto}}
[[Category:Living people]]
[[Category:1943 births]]
[[Category:21st-century Argentine biologists]]
[[Category:Geneticists]]
[[Category:Molecular biologists]]
[[Category:Fellows of Magdalen College, Oxford]]

Latest revision as of 18:38, 6 July 2024

Francisco Ernesto (Tito) Baralle
Born(1943-10-26)26 October 1943
Buenos Aires, Argentina
Children4
Scientific career
InstitutionsUniversity of Oxford
ICGEB

Francisco Ernesto (Tito) Baralle (born 26 October 1943, in Buenos Aires) is an Argentinian geneticist best known for his innovations in molecular biology and in particular the discovery of how genes are processed and mechanisms in mRNA splicing.[1][2][3]

Biography

[edit]

Francisco Ernesto (a.k.a. Tito) Baralle was born in Buenos Aires, Argentina on 26 October 1943. After completing his Ph.D. studies at the Department of Organic Chemistry, he transferred to the Instituto de Investigaciones Bioquimicas Fundacion Campomar directed by Prof. Luis F. Leloir, now the Leloir Institute. In 1974, he moved to the MRC Laboratory of Molecular Biology, Cambridge University, UK, where he worked in the Division directed by Dr. Frederick Sanger. From (1980 to 1990), he was University Lecturer of Pathology at Oxford University and Fellow of Magdalen College. In 1993, he was awarded the Platinum Konex Award for Science and Technology (Argentina) as the best scientist of the decade in Genetics and Cytology.

In September 1990, he was appointed Director of the Trieste Component of International Centre for Genetic Engineering and Biotechnology (ICGEB)[1] an autonomous, intergovernmental organisation originally established under UNIDO. From 2004-2014 he was the Director-General of the institute, overseeing laboratories in 4 continents, spanning 63 countries championing collaboration, scientific education and dissemination of Science and Biotechnology worldwide.

During his 10 year tenure as Director-General, and as well as expanding his medical and scientific research, he was responsible for the establishment of a Biotechnology Development Group serving as a training hub for researchers of developing countries, transferring biopharmaceutical know-how locally.

He was a strong supporter of the internationalization of science and took the 2-component (Italy and India) International Centre for Genetic Engineering and Biotechnology, and expanded it to 4 component institutions, establishing, and opening new centres in Africa and Argentina, giving opportunities and access to young scientists from the developing world.

Scientific activity

[edit]

In 1977, and as a staff scientist at the laboratory of molecular biology, Cambridge, Tito published the sequence of the messenger RNA coding for beta-globin,[4] the first complete primary structure of a eukaryotic[5] mRNA. In 1979, his research group isolated the gene for epsilon-globin (HBE1),[6] a component of human embryonic hemoglobin. He was one of the first to describe the pre-mRNA alternative splicing process in the 1980s.[3][7][2][8][9]

His studies on how genes are processed described the first sequences within exons that control splicing, exonic splicing enhancer (ESE)[3][10] and has since made critical contributions to understanding the molecular mechanisms involved in this important cellular process in health and disease. He first identified the protein called TDP 43,[1][11] that is now known to play a central role in certain neurodegenerative disorders (Frontotemporal lobar degeneration, Amyotrophic lateral sclerosis and Alzheimer disease). Tito Baralle is a leader and innovator in molecular biology and in particular the discovery of how genes are processed and mechanisms in mRNA splicing.

Honors and awards

[edit]
  • 2014 Doctor Honoris Causae of the Faculty of Medicine Universidad de la Republica, Montevideo, Uruguay
  • 2010 University of Nova Gorica, Slovenia Golden Plate Award for his work on international scientific collaboration. Full Professor of Molecular Biology
  • 2010 Premio Raices, granted very selectively by the Minister of Science and Technology of Argentina for promotion of scientific education in Argentina
  • 2010 Fellow of the Academy of Sciences for the Developing World-TWAS for the advancement of science in the developing world[12]
  • 2001 Fellow National Academy of Sciences of Argentina[13]
  • 1999 Visiting Professor University of Trieste
  • 1993 Premio Konex de Platino,[14] Konex Foundation Platinum prize in Science and technology, awarded to best scientist of the decade in Genetic and Cytology.
  • 1993 Konex Foundation Merit Diploma in Science and Technology
  • 1993 Honorary Professor of Biochemistry at the Faculty of Sciences, University of Buenos Aires
  • 1980 Member of the European Molecular Biology Organization (EMBO)

Scientific publications

[edit]

Tito has over 200 scientific publications,[15] some of his most cited are:

  • "The Structure and evolution of the human b-globin gene family"[16]
  • “TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis”[17]
  • "Primary structure of human fibronectin: Differential splicing may generate at least 10 polypeptides from a single gene"[18]
  • “Genomic variants in exons and introns: identifying the splicing spoilers”[19]
  • “Characterisation and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR Exon 9”[1]

References

[edit]
  1. ^ a b c Buratti, E.; Baralle, F. E. (28 September 2001). "Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9". The Journal of Biological Chemistry. 276 (39): 36337–36343. doi:10.1074/jbc.M104236200. ISSN 0021-9258. PMID 11470789.
  2. ^ a b Paolella, G.; Henchcliffe, C.; Sebastio, G.; Baralle, F. E. (25 April 1988). "Sequence analysis and in vivo expression show that alternative splicing of ED-B and ED-A regions of the human fibronectin gene are independent events". Nucleic Acids Research. 16 (8): 3545–3557. doi:10.1093/nar/16.8.3545. ISSN 0305-1048. PMC 336511. PMID 3375063.
  3. ^ a b c Mardon, H. J.; Sebastio, G.; Baralle, F. E. (12 October 1987). "A role for exon sequences in alternative splicing of the human fibronectin gene". Nucleic Acids Research. 15 (19): 7725–7733. doi:10.1093/nar/15.19.7725. ISSN 0305-1048. PMC 306303. PMID 3671064.
  4. ^ Efstratiadis, A; Posakony, JW; Maniatis, T; Lawn, RM; O'Connell, C; Spritz, RA; DeRiel, JK; Forget, BG; Weissman, SM; Slightom, JL; Blechl, AE; Smithies, O; Baralle, FE; Shoulders, CC; Proudfoot, NJ (October 1980). "The structure and evolution of the human beta-globin gene family". Cell. 21 (3): 653–68. doi:10.1016/0092-8674(80)90429-8. ISSN 0092-8674. PMID 6985477. S2CID 54326419.
  5. ^ Baralle, FE (1983). "The functional significance of leader and trailer sequences in eukaryotic mRNAs". International Review of Cytology. 81: 71–106. doi:10.1016/s0074-7696(08)62335-9. ISBN 9780123644817. PMID 6135669.
  6. ^ Proudfoot, NJ; Baralle, FE (November 1979). "Molecular cloning of human epsilon-globin gene". Proceedings of the National Academy of Sciences of the United States of America. 76 (11): 5435–9. doi:10.1073/pnas.76.11.5435. PMC 411663. PMID 160554.
  7. ^ Kornblihtt, A. R.; Vibe-Pedersen, K.; Baralle, F. E. (25 July 1984). "Human fibronectin: cell specific alternative mRNA splicing generates polypeptide chains differing in the number of internal repeats". Nucleic Acids Research. 12 (14): 5853–5868. doi:10.1093/nar/12.14.5853. ISSN 0305-1048. PMC 320036. PMID 6462919.
  8. ^ Zardi, L.; Carnemolla, B.; Siri, A.; Petersen, T. E.; Paolella, G.; Sebastio, G.; Baralle, F. E. (August 1987). "Transformed human cells produce a new fibronectin isoform by preferential alternative splicing of a previously unobserved exon". The EMBO Journal. 6 (8): 2337–2342. doi:10.1002/j.1460-2075.1987.tb02509.x. ISSN 0261-4189. PMC 553637. PMID 2822387.
  9. ^ Barone, M. V.; Henchcliffe, C.; Baralle, F. E.; Paolella, G. (April 1989). "Cell type specific trans-acting factors are involved in alternative splicing of human fibronectin pre-mRNA". The EMBO Journal. 8 (4): 1079–1085. doi:10.1002/j.1460-2075.1989.tb03476.x. ISSN 0261-4189. PMC 400917. PMID 2545440.
  10. ^ Muro, A. F.; Iaconcig, A.; Baralle, F. E. (16 October 1998). "Regulation of the fibronectin EDA exon alternative splicing. Cooperative role of the exonic enhancer element and the 5' splicing site". FEBS Letters. 437 (1–2): 137–141. doi:10.1016/s0014-5793(98)01201-0. ISSN 0014-5793. PMID 9804187. S2CID 7904127.
  11. ^ Buratti, E.; Dörk, T.; Zuccato, E.; Pagani, F.; Romano, M.; Baralle, F. E. (2 April 2001). "Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping". The EMBO Journal. 20 (7): 1774–1784. doi:10.1093/emboj/20.7.1774. ISSN 0261-4189. PMC 145463. PMID 11285240.
  12. ^ "Premian a científicos destacados". La Nación.
  13. ^ "Bienvenido a la Academia Nacional de Ciencias — Academia Nacional de Ciencias". 20 September 2007. Archived from the original on 20 September 2007. Retrieved 10 June 2021.
  14. ^ Factory, Troop Software. "Fundación Konex". www.fundacionkonex.org (in Spanish). Retrieved 10 June 2021.
  15. ^ "baralle fe - Search Results - PubMed". PubMed. Retrieved 10 June 2021.
  16. ^ Efstratiadis, A.; Posakony, J. W.; Maniatis, T.; Lawn, R. M.; O'Connell, C.; Spritz, R. A.; DeRiel, J. K.; Forget, B. G.; Weissman, S. M.; Slightom, J. L.; Blechl, A. E. (October 1980). "The structure and evolution of the human beta-globin gene family". Cell. 21 (3): 653–668. doi:10.1016/0092-8674(80)90429-8. ISSN 0092-8674. PMID 6985477. S2CID 54326419.
  17. ^ Sreedharan, Jemeen; Blair, Ian P.; Tripathi, Vineeta B.; Hu, Xun; Vance, Caroline; Rogelj, Boris; Ackerley, Steven; Durnall, Jennifer C.; Williams, Kelly L.; Buratti, Emanuele; Baralle, Francisco (21 March 2008). "TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis". Science. 319 (5870): 1668–1672. Bibcode:2008Sci...319.1668S. doi:10.1126/science.1154584. ISSN 1095-9203. PMC 7116650. PMID 18309045.
  18. ^ Kornblihtt, A. R.; Umezawa, K.; Vibe-Pedersen, K.; Baralle, F. E. (July 1985). "Primary structure of human fibronectin: differential splicing may generate at least 10 polypeptides from a single gene". The EMBO Journal. 4 (7): 1755–1759. doi:10.1002/j.1460-2075.1985.tb03847.x. ISSN 0261-4189. PMC 554414. PMID 2992939.
  19. ^ Pagani, Franco; Baralle, Francisco E. (May 2004). "Genomic variants in exons and introns: identifying the splicing spoilers". Nature Reviews. Genetics. 5 (5): 389–396. doi:10.1038/nrg1327. ISSN 1471-0056. PMID 15168696. S2CID 1453186.
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