F
Francisco E. Baralle
Researcher at International Centre for Genetic Engineering and Biotechnology
Publications - 209
Citations - 23250
Francisco E. Baralle is an academic researcher from International Centre for Genetic Engineering and Biotechnology. The author has contributed to research in topics: RNA splicing & Exon. The author has an hindex of 69, co-authored 208 publications receiving 21238 citations. Previous affiliations of Francisco E. Baralle include Laboratory of Molecular Biology.
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Journal ArticleDOI
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Jemeen Sreedharan,Ian P. Blair,Vineeta B. Tripathi,Xun Hu,Caroline Vance,Boris Rogelj,Steven Ackerley,Steven Ackerley,Jennifer C Durnall,Kelly L. Williams,Emanuele Buratti,Francisco E. Baralle,Jacqueline de Belleroche,J. Douglas Mitchell,P. Nigel Leigh,Ammar Al-Chalabi,Christopher C.J. Miller,Christopher C.J. Miller,Garth A. Nicholson,Garth A. Nicholson,Christopher Shaw +20 more
TL;DR: The evidence suggests a pathophysiological link between TDP-43 and ALS, and neighboring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases.
Journal ArticleDOI
The structure and evolution of the human β-globin gene family
Argiris Efstratiadis,James W. Posakony,Tom Maniatis,Richard M. Lawn,Catherine O'Connell,Richard A. Spritz,Jon K. deRiel,Bernard G. Forget,Sherman M. Weissman,Jerry L. Slightom,Ann E. Blechl,Oliver Smithies,Francisco E. Baralle,Carol C. Shoulders,Nick J. Proudfoot +14 more
TL;DR: A model for the involvement of short direct repeat sequences in the generation of deletions in the noncoding and coding regions of B-like globin genes during evolution is described.
Journal ArticleDOI
Alternative splicing as a regulator of development and tissue identity
TL;DR: This work has shown that coordinated splicing networks regulate tissue and organ development, and that alternative splicing has important physiological functions in different developmental processes in humans.
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Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Masato Hasegawa,Tetsuaki Arai,Takashi Nonaka,Fuyuki Kametani,Mari Yoshida,Yoshio Hashizume,Thomas G. Beach,Emanuele Buratti,Francisco E. Baralle,Mitsuya Morita,Imaharu Nakano,Tatsuro Oda,Kuniaki Tsuchiya,Haruhiko Akiyama +13 more
TL;DR: The aim of this study was to identify the phosphorylation sites and responsible kinases, and to clarify the pathological significance ofosphorylation of TDP‐43.
Journal ArticleDOI
Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
Emanuele Buratti,Thilo Dörk,Elisabetta Zuccato,Franco Pagani,Maurizio Romano,Maurizio Romano,Francisco E. Baralle +6 more
TL;DR: TDP‐43, a nuclear protein not previously described to bind RNA, is identified as the factor binding specifically to the (TG)m sequence, providing a new therapeutic target to correct aberrant splicing of exon 9 in CF patients.