Patrizia Bossolasco

Milan, Italy

Last Updated: 09/26/2026

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Found 26 publications

TOP1MT rs2293925 is an enhancer-active regulatory SNP that shapes mitochondrial R-loop dynamics.

TOP1MT rs2293925 is an enhancer-active regulatory SNP that shapes mitochondrial R-loop dynamics.

Journal: The FEBS journal
Published: May 21, 2026

Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patient.

Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patient.

Journal: Frontiers in genetics
Published: December 23, 2025

Tumor-associated macrophages enhance peripheral nerve tumor infiltration and spinal cord repair.

Tumor-associated macrophages enhance peripheral nerve tumor infiltration and spinal cord repair.

Journal: Immunity
Published: July 31, 2024

Modeling of TDP-43 proteinopathy by chronic oxidative stress identifies rapamycin as beneficial in ALS patient-derived 2D and 3D iPSC models.

Modeling of TDP-43 proteinopathy by chronic oxidative stress identifies rapamycin as beneficial in ALS patient-derived 2D and 3D iPSC models.

Journal: Experimental neurology
Published: May 29, 2024

NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons.

NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons.

Journal: Human molecular genetics
Published: March 27, 2024

Corrigendum to: "Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member" [Stem Cell Res. 66 (2023) 1-5/102998].

Corrigendum to: "Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member" [Stem Cell Res. 66 (2023) 1-5/102998].

Journal: Stem cell research
Published: November 09, 2023

Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene.

Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene.

Journal: Stem cell research
Published: November 18, 2022

Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member.

Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member.

Journal: Stem cell research
Published: September 26, 2022

GRN-/- iPSC-derived cortical neurons recapitulate the pathological findings of both frontotemporal lobar degeneration and neuronal ceroidolipofuscinosis.

GRN-/- iPSC-derived cortical neurons recapitulate the pathological findings of both frontotemporal lobar degeneration and neuronal ceroidolipofuscinosis.

Journal: Neurobiology of disease
Published: June 04, 2022

Exosome microRNAs in Amyotrophic Lateral Sclerosis: A Pilot Study.

Exosome microRNAs in Amyotrophic Lateral Sclerosis: A Pilot Study.

Journal: Biomolecules
Published: July 13, 2021

Chronic stress induces formation of stress granules and pathological TDP-43 aggregates in human ALS fibroblasts and iPSC-motoneurons.

Chronic stress induces formation of stress granules and pathological TDP-43 aggregates in human ALS fibroblasts and iPSC-motoneurons.

Journal: Neurobiology of disease
Published: April 11, 2020

Complete neural stem cell (NSC) neuronal differentiation requires a branched chain amino acids-induced persistent metabolic shift towards energy metabolism.

Complete neural stem cell (NSC) neuronal differentiation requires a branched chain amino acids-induced persistent metabolic shift towards energy metabolism.

Journal: Pharmacological research
Published: January 28, 2020
Showing 1-12 of 26

Last Updated: 09/26/2026