Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

By E. Buratti, T. Dörk, Elisabetta Zuccato, F. Pagani, M. Romano, Francisco E. Baralle. EMBO Journal, 2001

680 citations recorded by the source corpus.

Subfields: Genetics, Pediatrics, Perinatology and Child Health, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/03cb03700ffbd0764dc55cc81f331266ca96dcf2

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In Genetics

Citations in the corpus

Axonal transport of TDP-43 mRNA granules in neurons is impaired by ALS-causing mutations (2014, neutral): “, 1995) and splicing regulator (Buratti et al., 2001) and later recognized”
ALS mutations disrupt phase separation mediated by -helical structure in the TDP-43 low complexity C-terminal domain (2016, background): “…and cellular function TDP-43 has been implicated in a wide array of cellular processes including regulation of mRNA splicing(Ayala et al., 2005; Buratti et al., 2001), RNA transport and localization(Alami et al., 2014), and partitioning into cytoplasmic translation-arresting stress…”
Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations (2007, background): “Discussion TDP-43 was first cloned as a human protein capable of binding to the transactive response DNA of human immunodeficiency virus type 1 (HIV-1),(22) and later identified as part of a complex involved in splicing the cystic fibrosis transmembrane conductance regulator gene.(23) TDP-43 contain”
Stress granules as crucibles of ALS pathogenesis (2013, background): “…isoforms of proteins, including cystic fibrosis transmembrane regulator (CFTR), apolipoprotein A-II, and survival of motor neuron (SMN), possibly related to its association with several other protein involved in splicing (e.g., SC35; Buratti et al., 2001; Mercado et al., 2005; Fiesel et al., 2012).”
TDP‐43 regulates its mRNA levels through a negative feedback loop (2011, background): “Antibodies used: TDP-43 (ProteinTech Group 10782-2-AP and the previously described (Buratti et al, 2001)), p84 (Abcam ab487), tubulin (Sigma T5168), Upf1 (Santa Cruz Biotechnology sc-18260), PM/Scl-100 (Abcam ab50558), and DIS3 (Abcam ab68570).”
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. (2010, background): “The pre-mRNA of CFTR contains an intronic UG tract that is recognized by TDP-43, thereby promoting skipping of exon 9 in CFTR mRNA (Fig.”
Pre-mRNA splicing and human disease. (2003, background): “A protein of unknown function, TDP-43, binds to the (UG)n tract and inhibits exon 9 inclusion (Buratti et al. 2001).”
Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration (2011, background): “hnRNP complexes are known to regulate splicing, and TDP43 regulates the splicing of human cystic fibrosis transmembrane conductance regulato”
Structural determinants of the cellular localization and shuttling of TDP-43 (2008, methodology): “FLAG-tagged TDP-43 was generated by PCR amplification from the previously described vector pGEX3X-TDP43 (Buratti et al., 2001) using primers 1 and 2 (see below) to clone the sequence between the HindIII-BamHI sites of pFLAG-CMV-2 (Sigma).”
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. (2002, methodology): “…as long and is protected by the first 127 nt of the open reading frame. positive or negative cis regulators of alternative splicing The 243 nt probe used to study the intron 2 minigene was obtained by PCR and consisted of 159 nt of exon 2 and backbone vector(Buratti et al., 2001; Gabellini, 2001).”