Luk H. Vandenberghe

International Centre for Genetic Engineering and Biotechnology — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

39h-index5.2kcitations105works1.02yr avg
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Research Topics

RNA Research and Splicing(48), RNA and protein synthesis mechanisms(24), RNA modifications and cancer(23), Neurogenetic and Muscular Disorders Research(22), RNA Interference and Gene Delivery(10)

Publications104 total

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in familial dysautonomia
Molecular Therapy — Nucleic Acids·2025· 1 citedOpen Access
AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia
2025· 2 citedOpen Access
A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation
Journal of Clinical Investigation·2024· 1 citedOpen Access
Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure
PLoS ONE·2024Open Access
Supplementary Data from A High Proportion of DNA Variants of <i>BRCA1</i> and <i>BRCA2</i> Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
2023Open Access
Data from A High Proportion of DNA Variants of <i>BRCA1</i> and <i>BRCA2</i> Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
2023Open Access
Supplementary Data from A High Proportion of DNA Variants of <i>BRCA1</i> and <i>BRCA2</i> Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
2023Open Access
Data from A High Proportion of DNA Variants of <i>BRCA1</i> and <i>BRCA2</i> Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
2023Open Access
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA
The American Journal of Human Genetics·2022· 21 citedOpen Access
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies
Molecular Medicine·2021· 7 citedOpen Access
A novel exon-specific U1snRNA therapeutic strategy to prevent retinal degeneration in familial dysautonomia
Investigative Ophthalmology & Visual Science·2021Open Access
Rescue of common exon‐skipping mutations in cystic fibrosis with modified U1 snRNAs
Human Mutation·2020· 13 cited
Rescue of common exon skipping mutations in Cystic Fibrosis with modified U1 snRNAs
2020· 4 citedOpen Access
A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I
International Journal of Molecular Sciences·2020· 18 citedOpen Access
Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA
Nucleic Acids Research·2019· 42 citedOpen Access
Microprocessor-dependent processing of splice site overlapping microRNA exons does not result in changes in alternative splicing
RNA·2018· 14 citedOpen Access
Exon-specific U1 snRNAs improve <i>ELP1</i> exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model
Human Molecular Genetics·2018· 55 citedOpen Access
Analysis of psoriasis‐relevant gene expression and exon usage alterations after silencing of <scp>SR</scp>‐rich splicing regulators
Experimental Dermatology·2018· 12 citedOpen Access
443 Analysis of psoriasis-relevant gene expression and exon usage changes upon the altered expression of splicing factors differentially expressed in psoriatic epidermis
Journal of Investigative Dermatology·2017
Erratum to: Splicing factors differentially expressed in psoriasis alter mRNA maturation of disease-associated EDA+ fibronectin
Molecular and Cellular Biochemistry·2017· 1 citedOpen Access
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Frequent Co-authors

Francisco E. Baralle(16), Emanuele Buratti(8), Erica Bussani(8), Mirko Pinotti(7), Cristiana Stuani(6), Dario Balestra(6), Malgorzata Ewa Rogalska(5), Francesco Bernardi(5), Giulia Pianigiani(4), Luis J. V. Galietta(3), Elisabetta Zuccato(3), Carlo Vergani(3), Alessandro Sidoli(3), Livia Barenghi(3), Andrea Dal Mas(3), Nicola Cavallari(3), Marzena Anna Lewandowska(3), Irving Donadon(3), Tibor J. Pastor(3), Ifeoma Ubby(2)