User profiles for Luca Massimino
Luca MassiminoSan 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
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 …
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
Direct cell reprogramming enables direct conversion of fibroblasts into functional neurons
and oligodendrocytes using a minimal set of cell-lineage-specific transcription factors. This …
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 …
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
Transplantation of GABAergic interneurons (INs) can provide long-term functional benefits
in animal models of epilepsy and other neurological disorders. Whereas GABAergic INs can …
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 …
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 …
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
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 …
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 …
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 …
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
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 …
unknown. Despite the high number of IBD-related omics studies, the RNA-sequencing data …