User profiles for Luca Massimino

Luca Massimino

San Raffaele Scientific Institute
Verified email at lucamassimino.com
Cited by 2509

[HTML][HTML] Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicity

S Bido, S Muggeo, L Massimino, MJ Marzi… - Nature …, 2021 - nature.com
Recent findings in human samples and animal models support the involvement of
inflammation in the development of Parkinson’s disease. Nevertheless, it is currently unknown …

[PDF][PDF] Direct conversion of fibroblasts into functional astrocytes by defined transcription factors

…, A Sessa, G Colasante, R Bartolomeo, L Massimino… - Stem cell reports, 2015 - cell.com
Direct cell reprogramming enables direct conversion of fibroblasts into functional neurons
and oligodendrocytes using a minimal set of cell-lineage-specific transcription factors. This …

[PDF][PDF] Pharmacological inhibition of necroptosis protects from dopaminergic neuronal cell death in Parkinson's disease models

…, A Segnali, C Cancellieri, A Maresca, L Massimino… - Cell reports, 2018 - cell.com
Dysfunctions in mitochondrial dynamics and metabolism are common pathological processes
associated with Parkinson's disease (PD). It was recently shown that an inherited form of …

[PDF][PDF] Rapid conversion of fibroblasts into functional forebrain GABAergic interneurons by direct genetic reprogramming

…, L Medrihan, L Yekhlef, A Sessa, L Massimino… - Cell stem cell, 2015 - cell.com
Transplantation of GABAergic interneurons (INs) can provide long-term functional benefits
in animal models of epilepsy and other neurological disorders. Whereas GABAergic INs can …

[HTML][HTML] dCas9-based Scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice

…, V Castoldi, S Marenna, T Church, L Massimino… - Molecular Therapy, 2020 - cell.com
Dravet syndrome (DS) is a severe epileptic encephalopathy caused mainly by heterozygous
loss-of-function mutations of the SCN1A gene, indicating haploinsufficiency as the …

Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery

…, M Luoni, V Castoldi, L Massimino… - Human molecular …, 2018 - academic.oup.com
P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant
form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes …

[PDF][PDF] SETD5 regulates chromatin methylation state and preserves global transcriptional fidelity during brain development and neuronal wiring

A Sessa, L Fagnocchi, G Mastrototaro, L Massimino… - Neuron, 2019 - cell.com
Mutations in one SETD5 allele are genetic causes of intellectual disability and autistic spectrum
disorders. However, the mechanisms by which SETD5 regulates brain development and …

[HTML][HTML] Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome

…, M Luoni, S Giannelli, S Bido, L Massimino… - Nature …, 2022 - nature.com
Dravet syndrome is a severe epileptic encephalopathy caused primarily by haploinsufficiency
of the SCN1A gene. Repetitive seizures can lead to endurable and untreatable …

Lorlatinib treatment elicits multiple on-and off-target mechanisms of resistance in ALK-driven cancer

…, C Mastini, M Mauri, M Nigoghossian, L Massimino… - Cancer research, 2018 - AACR
High-throughput genomic, transcriptomic, and proteomic profiling reveals various mechanisms
by which multiple tumor types acquire resistance to the third-generation ALK inhibitor …

[HTML][HTML] The inflammatory bowel disease transcriptome and metatranscriptome meta-analysis (IBD TaMMA) framework

L Massimino, LA Lamparelli, Y Houshyar… - Nature Computational …, 2021 - nature.com
Inflammatory bowel disease (IBD) is a class of chronic disorders whose etiogenesis is still
unknown. Despite the high number of IBD-related omics studies, the RNA-sequencing data …