C. Stuani

发表

Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9*

E. Buratti, F. Baralle, F. Pagani, 2003, Journal of Biological Chemistry.

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

Teresa Casals, F. Baralle, M. Tzetis, 2003, Human molecular genetics.

Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy

Y. Hayashi, I. Nishino, A. Pichiecchio, 2018, European journal of neurology.

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor.

L. Petrucelli, D. Dickson, E. Buratti, 2016, Human molecular genetics.

Cellular Model of TAR DNA-binding Protein 43 (TDP-43) Aggregation Based on Its C-terminal Gln/Asn-rich Region*

E. Buratti, F. Baralle, L. De Conti, 2012, The Journal of Biological Chemistry.

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target

M. Luca, B. Borroni, A. Padovani, 2017, Scientific Reports.

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

B. Ghetti, K. Newell, B. Bembi, 2016, Acta neuropathologica communications.

Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease

M. Luca, B. Borroni, A. Padovani, 2009, Human mutation.

Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts

M. Giacca, E. Buratti, M. Romano, 2020, Molecular therapy. Methods & clinical development.

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

L. Petrucelli, D. Dickson, J. Gass, 2012, Proceedings of the National Academy of Sciences.

Unraveling the toxic effects mediated by the neurodegenerative disease–associated S375G mutation of TDP-43 and its S375E phosphomimetic variant

D. Laurents, E. Buratti, M. Romano, 2022, The Journal of biological chemistry.

Difference in substrate specificity between human and mouse lysosomal acid lipase: low affinity for cholesteryl ester in mouse lysosomal acid lipase.

F. Pagani, C. Stuani, J. Groener, 2000, Biochimica et biophysica acta.

Nuclear factor TDP‐43 can affect selected microRNA levels

E. Buratti, M. Baralle, F. Baralle, 2010, The FEBS journal.

Optineurin Deficiency and Insufficiency Lead to Higher Microglial TDP-43 Protein Levels

E. Buratti, C. Stuani, I. Munitic, 2022, International journal of molecular sciences.

New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.

F. Baralle, F. Pagani, C. Stuani, 1998, Journal of lipid research.

L273S missense substitution in human lysosomal acid lipase creates a new N‐glycosylation site

F. Baralle, F. Pagani, C. Stuani, 1996, FEBS letters.

Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.

F. Baralle, F. Pagani, C. Stuani, 1996, Human molecular genetics.

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

B. Bembi, E. Buratti, F. Baralle, 2013, Nucleic acids research.

Evolutionary connections between coding and splicing regulatory regions in the fibronectin EDA exon.

E. Buratti, F. Baralle, C. Stuani, 2011, Journal of molecular biology.

SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer

E. Buratti, F. Baralle, C. Stuani, 2007, Nucleic acids research.

Functional studies on the ATM intronic splicing processing element

F. Baralle, F. Pagani, C. Stuani, 2005, Nucleic acids research.

Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells

E. Buratti, M. Romano, C. Stuani, 2017, Nucleic acids research.

Evolutionarily Conserved Heterogeneous Nuclear Ribonucleoprotein (hnRNP) A/B Proteins Functionally Interact with Human and Drosophila TAR DNA-binding Protein 43 (TDP-43)*

E. Buratti, F. Baralle, M. Romano, 2014, The Journal of Biological Chemistry.

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43

J. Ule, F. Damberger, E. Buratti, 2013, Nature Structural &Molecular Biology.

A new type of mutation causes a splicing defect in ATM

T. Dörk, R. Bendix, E. Buratti, 2002, Nature Genetics.

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element*

E. Buratti, F. Baralle, M. Romano, 2000, The Journal of Biological Chemistry.

An Intronic Polypyrimidine-rich Element Downstream of the Donor Site Modulates Cystic Fibrosis Transmembrane Conductance Regulator Exon 9 Alternative Splicing*

E. Buratti, F. Baralle, F. Pagani, 2004, Journal of Biological Chemistry.

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1

D. Baralle, Christopher W. J. Smith, M. Llorian, 2008, The FEBS journal.

BRCA1 exon 11 a model of long exon splicing regulation

D. Baralle, M. Raponi, E. Buratti, 2014, RNA biology.

Promoter Architecture Modulates CFTR Exon 9 Skipping*

A. Kornblihtt, F. Baralle, F. Pagani, 2003, The Journal of Biological Chemistry.

Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript

V. Rimoldi, E. Buratti, C. Stuani, 2013, PloS one.

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

A. D’Ambrogio, E. Buratti, F. Baralle, 2009, Nucleic acids research.

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target

B. Borroni, A. Padovani, M. di Luca, 2017, Scientific Reports.

The Secondary Structure of the Human Immunodeficiency Virus Type 1 Transcript Modulates Viral Splicing and Infectivity

E. Buratti, C. Stuani, M. Caputi, 2008, Journal of Virology.

The TDP‐43 N‐terminal domain structure at high resolution

D. Laurents, D. Pantoja-Uceda, E. Buratti, 2016, The FEBS journal.

Phe-Gly motifs drive fibrillization of TDP-43’s prion-like domain condensates

D. Laurents, A. McDermott, D. Pantoja-Uceda, 2021, PLoS biology.

Dysregulation of TDP‐43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

Gary L. Pattee, D. Laurents, B. Ghetti, 2019, Brain pathology.

Diagnostic performance of a colorimetric RT -LAMP for the identification of SARS-CoV-2: A multicenter prospective clinical evaluation in sub-Saharan Africa

E. Buratti, L. De Conti, C. Stuani, 2021, EClinicalMedicine.

Keratin14 mRNA expression in human pneumocytes during quiescence, repair and disease

M. Chilosi, E. Buratti, M. Romano, 2017, PloS one.

Expression of tumor-promoting Cyr61 is regulated by hTRA2-β1 and acidosis.

E. Stickeler, M. Hirschfeld, E. Buratti, 2011, Human molecular genetics.

Phe-Gly motifs drive fibrillization of TDP-43’s prion-like domain droplets

D. Laurents, A. McDermott, D. Pantoja-Uceda, 2020, bioRxiv.

Point mutations in the N-terminal domain of transactive response DNA-binding protein 43 kDa (TDP-43) compromise its stability, dimerization, and functions

D. Laurents, D. Pantoja-Uceda, E. Buratti, 2017, The Journal of Biological Chemistry.

Point mutations in transactive response DNA-binding protein 43 ( TDP-43 ) ’ s N-terminal domain compromise its stability , dimerization and functions

D. Laurents, D. Pantoja-Uceda, E. Buratti, 2017 .

Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation

E. Buratti, M. Baralle, F. Baralle, 2013, Nucleic acids research.

Aromatic and aliphatic residues of the disordered region of TDP-43 are on a fast track for self-assembly.

D. Laurents, D. Pantoja-Uceda, E. Buratti, 2021, Biochemical and biophysical research communications.

NMR assignments for the C-terminal domain of human TDP-43

D. Laurents, A. McDermott, D. Pantoja-Uceda, 2021, Biomolecular NMR Assignments.

NMR assignments for the C-terminal domain of human TDP-43

D. Laurents, A. McDermott, D. Pantoja-Uceda, 2021, Biomolecular NMR Assignments.

hnRNP A1 induces aberrant CFTR exon 9 splicing via a newly discovered Exonic Splicing Silencer element

E. Buratti, C. Stuani, M. Chou, 2023, bioRxiv.

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

B. Ghetti, B. Bembi, E. Buratti, 2016, Acta Neuropathologica Communications.

The TDP‐43 N‐terminal domain structure at high resolution

D. Laurents, D. Pantoja-Uceda, E. Buratti, 2016, The FEBS journal.

Location and function of TDP-43 in platelets, alterations in neurodegenerative diseases and arising considerations for current plasma biobank protocols

E. Buratti, C. Stuani, B. Carlyle, 2024, Scientific reports.