A5054718225- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- Neurological disorders and treatments
- Amyotrophic Lateral Sclerosis Research
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Pluripotent Stem Cells Research
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Autoimmune Neurological Disorders and Treatments
- Neurological and metabolic disorders
- Nuclear Receptors and Signaling
- Hereditary Neurological Disorders
- Diet and metabolism studies
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
New York University
2019-2025
Hinge Health
2024
NYU Langone Health
2018-2024
Columbia University Irving Medical Center
2023
Columbia University
2021
University of Milan
2010-2020
Ferrari (Italy)
2012-2019
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2010-2015
Ospedale Maggiore
2010-2012
Istituti di Ricovero e Cura a Carattere Scientifico
2010
Motor neurons generated from genetically corrected iPSCs derived patients with spinal muscular atrophy show rescue of the disease phenotype.
Generating neural stem cells and neurons from reprogrammed human astrocytes is a potential strategy for neurological repair. Here we show dedifferentiation of cortical into the stem/progenitor phenotype to obtain progenitor mature with fate. Ectopic expression reprogramming factors OCT4, SOX2, or NANOG in specific cytokine/culture conditions activated gene program induced generation expressing stem/precursor markers. Pure CD44+ also exhibited this lineage commitment change did not require...
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease characterized by the degeneration of motor neurons. Currently, there no effective therapy for ALS. Stem cell transplantation potential therapeutic strategy ALS, and reprogramming adult somatic cells into induced pluripotent stem (iPSCs) represents novel source. In this study, we isolated specific neural (NSC) population from human iPSCs based on high aldehyde dehydrogenase activity, low side scatter integrin VLA4 positivity....
Mitochondria are highly dynamic, complex organelles that continuously alter their shape, ranging between two opposite processes, fission and fusion, in response to several stimuli the metabolic demands of cell. Alterations mitochondrial dynamics due mutations proteins involved fusion-fission machinery represent an important pathogenic mechanism human diseases. The most relevant fusion process three GTPase dynamin-like proteins: mitofusin 1 (MFN1) 2 (MFN2), located outer membrane, optic...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease mainly involving cortical and spinal motor neurones. Molecular studies have recently identified different mutations in the ubiquilin-2 (UBQLN2) gene as causative of familial form X-linked ALS, 90% penetrant women. The aim our study was to analyse UBQLN2 large cohort patients with (FALS) sporadic (SALS) amyotrophic sclerosis, or without frontotemporal dementia (FTD), FTD.We analysed 819 SALS cases, 226 FALS 53 ALS-FTD...
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disease characterized by the loss of motor neurons. Motor neuron degeneration probably both cell autonomous and non-autonomous event. Therefore, manipulating diseased microenvironment via non-neural replacement could be therapeutic strategy. We investigated therapy approach using intravascular injection to transplant specific population c-kit+ stem/progenitor cells from bone marrow into SOD1G93A mouse model ALS....
Genetic mutations in beta-glucocerebrosidase (GBA) represent the major genetic risk factor for Parkinson's disease (PD). GBA participates both endo-lysosomal pathway and immune response, two important mechanisms involved pathogenesis of PD. However, modifiers penetrance have not yet been fully elucidated.
Data-driven approaches identified Mild Motor Predominant (MMP), Intermediate (IM) and Diffuse Malignant (DM) as subtypes of Parkinson's Disease (PD) with a different degree motor non-motor impairment at time diagnosis. It is not clear whether remain stable over nor they represent distinct biological substrates. The recent introduction alpha-synuclein seed amplification assay on CSF (CSF-αSyn-SAA) might provide further insights. To assess the association between parameters CSF-αSyn-SAA...
Abstract Background Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA/TTTCA repeat expansion in seven distinct genes. TTTTA‐only expansions are benign, whereas those containing TTTCA insertions pathogenic. Objective We investigated genetic basis of cortical without seizures two unrelated families. Methods Repeat‐primed polymerase chain reaction (PCR), long‐range PCR, and nanopore sequencing were used to detect characterize at...