Elisa Maria Turco

Casa Sollievo della Sofferenza — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

4h-index48citations17works0.52yr avg
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Research Topics

RNA regulation and disease(6), Genomic variations and chromosomal abnormalities(5), interferon and immune responses(3), Advanced biosensing and bioanalysis techniques(2), RNA Research and Splicing(2)

Publications17 total

Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A
Stem Cell Research·2025Open Access
Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation
Stem Cell Research·2025Open Access
Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region
Stem Cell Research·2024Open Access
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A)
Stem Cell Research·2024· 2 citedOpen Access
Corrigendum: Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview
Frontiers in Cell and Developmental Biology·2023Open Access
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene
Stem Cell Research·2023· 3 citedOpen Access
Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview
Frontiers in Cell and Developmental Biology·2023· 1 citedOpen Access
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Cell Death and Disease·2022· 14 citedOpen Access
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
2022Open Access
Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3
Stem Cell Research·2022· 6 citedOpen Access
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
2022Open Access
Contributors
Elsevier eBooks·2021
Induced pluripotent stem cells for modeling Smith–Magenis syndrome
Elsevier eBooks·2021· 1 cited
A Multi-Layered Study on Harmonic Oscillations in Mammalian Genomics and Proteomics
International Journal of Molecular Sciences·2019· 10 citedOpen Access
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7
Stem Cell Research·2018· 4 citedOpen Access
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome
Stem Cell Research·2018· 4 citedOpen Access
Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)
Stem Cell Research·2018· 3 citedOpen Access

Frequent Co-authors

Jessica Rosati(17), Angelo L. Vescovi(16), Laura Bernardini(10), Daniela Ferrari(10), Angela Maria Giada Giovenale(9), Maria Pennuto(9), Bárbara Torres(7), Giuseppe Zampino(7), Roberta Onesimo(7), Gianluigi Mazzoccoli(6), Laura Sireno(5), Martina Mazzoni(5), Matteo Della Monica(5), Chiara Leoni(5), Giovannina Rotundo(5), Stefano D’Arrigo(4), Diana Postorivo(4), Antonella De Jaco(4), Ada Maria Tata(4), Giorgia Ruotolo(4)