Giorgia Ruotolo

San Giovanni Rotondo, Italy

Last Updated: 09/26/2026

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Found 12 publications

Selective Silencing of TDP-43 P. G376D Mutation Reverses Key Amyotrophic Lateral Sclerosis-Related Cellular Deficits.

Selective Silencing of TDP-43 P. G376D Mutation Reverses Key Amyotrophic Lateral Sclerosis-Related Cellular Deficits.

Journal: Biomolecules

Published: December 09, 2025

Mutant Huntingtin disrupts neurogenic and astroglial programs via the EZH2-Let-7g-LIN28 axis with rescue by epigenetic modulators.

Mutant Huntingtin disrupts neurogenic and astroglial programs via the EZH2-Let-7g-LIN28 axis with rescue by epigenetic modulators.

Journal: Cell death and differentiation

Published: October 07, 2025

Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A.

Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A.

Journal: Stem cell research

Published: July 25, 2025

Lysosomal Dysfunction in Amyotrophic Lateral Sclerosis: A Familial Case Linked to the p.G376D TARDBP Mutation.

Lysosomal Dysfunction in Amyotrophic Lateral Sclerosis: A Familial Case Linked to the p.G376D TARDBP Mutation.

Journal: International journal of molecular sciences

Published: January 27, 2025

Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43G376D fibroblasts from members of an Amyotrophic Lateral Sclerosis family.

Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43G376D fibroblasts from members of an Amyotrophic Lateral Sclerosis family.

Journal: Cell death & disease

Published: August 09, 2024

Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene.

Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene.

Journal: Stem cell research

Published: July 05, 2024

Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene.

Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene.

Journal: Stem cell research

Published: February 16, 2024

Corrigendum: Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.

Corrigendum: Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.

Journal: Frontiers in cell and developmental biology

Published: January 10, 2023

Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.

Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.

Journal: Frontiers in cell and developmental biology

Published: November 25, 2022

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.

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.

Journal: Stem cell research

Published: October 08, 2022

Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein.

Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein.

Journal: Stem cell research

Published: April 21, 2022

Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.

Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.

Journal: Antioxidants (Basel, Switzerland)

Published: March 04, 2022

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Last Updated: 09/26/2026