Martina de Majo

ORCID: 0000-0003-4524-6293
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About
Contact & Profiles
Research Areas
  • Amyotrophic Lateral Sclerosis Research
  • Neurological diseases and metabolism
  • Neurogenetic and Muscular Disorders Research
  • Neuroinflammation and Neurodegeneration Mechanisms
  • Parkinson's Disease Mechanisms and Treatments
  • Neurogenesis and neuroplasticity mechanisms
  • Alzheimer's disease research and treatments
  • S100 Proteins and Annexins
  • Synthetic Organic Chemistry Methods
  • Fibromyalgia and Chronic Fatigue Syndrome Research
  • Microtubule and mitosis dynamics
  • Pluripotent Stem Cells Research
  • Glioma Diagnosis and Treatment
  • Long-Term Effects of COVID-19
  • Prion Diseases and Protein Misfolding
  • Cell Image Analysis Techniques
  • SARS-CoV-2 and COVID-19 Research
  • biodegradable polymer synthesis and properties
  • COVID-19 and Mental Health
  • Genetic Neurodegenerative Diseases

Synaptic Research (United States)
2025

University of California, San Francisco
2020-2023

King's College London
2015-2021

UK Dementia Research Institute
2017-2018

Istituto Superiore di Sanità
2014

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) readily infects a variety of cell types impacting the function vital organ systems, with particularly impact on function. Neurological symptoms, which range in severity, accompany as many one-third COVID-19 cases, indicating potential vulnerability neural types. To assess whether human cortical cells can be directly infected by SARS-CoV-2, we utilized stem-cell-derived organoids well primary tissue, both from developmental and...

10.1073/pnas.2122236119 article EN cc-by Proceedings of the National Academy of Sciences 2022-07-12

Loss of function (LoF) TAR-DNA binding protein 43 (TDP-43) and mis-localization, together with TDP-43-positive hyperphosphorylated inclusions, are found in post-mortem tissue amyotrophic lateral sclerosis (ALS) frontotemporal dementia (FTD) patients, including those carrying LoF variants the progranulin gene (GRN). Modeling TDP-43 pathology has been challenging vivo vitro. We present a three-dimensional induced pluripotent stem cell (iPSC)-derived paradigm-mature brain organoids...

10.1016/j.stemcr.2023.01.012 article EN cc-by Stem Cell Reports 2023-02-23

Glioblastoma (GBM) is the most common and deadly adult brain tumor. Despite aggressive surgery, radiation, chemotherapy, life expectancy of patients diagnosed with GBM ∼14 months. The extremely nature results from glioblastoma stem-like cells (GSCs) that sustain growth, survive intensive give rise to tumor recurrence. There accumulating evidence revealing GSC resilience because concomitant activation multiple survival pathways. In order decode signal transduction networks responsible for...

10.1038/cddis.2014.188 article EN cc-by-nc-nd Cell Death and Disease 2014-05-08

Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral sclerosis. Some TBK1 variants are nonsense and predicted cause disease through haploinsufficiency; however, many other mutations missense with unknown functional effects. We exome sequenced 699 familial sclerosis patients identified 16 novel or extremely rare protein-changing variants. characterized a subset of these: p.G217R, p.R357X, p.C471Y. Here, we show that the p.R357X p.G217R both abolish ability...

10.1016/j.neurobiolaging.2018.06.015 article EN cc-by Neurobiology of Aging 2018-06-25

Mutations in the human Progranulin (GRN) gene are a leading cause of frontotemporal lobar degeneration (FTLD). While previous studies implicate aberrant microglial activation as disease-driving factor neurodegeneration thalamocortical circuit Grn-/- mice, exact mechanism for FTLD-GRN remains unclear. By performing comparative single-cell transcriptomics thalamus and frontal cortex mice patients with FTLD-GRN, we have uncovered highly conserved astroglial pathology characterized by...

10.1172/jci164919 article EN cc-by Journal of Clinical Investigation 2023-01-05

Abstract Cytoplasmic TDP43 mislocalization and aggregation are pathological hallmarks of amyotrophic lateral sclerosis (ALS). However, the initial cellular insults that lead to remain unclear. In this study, we demonstrate Nemo-like kinase (NLK)—a proline-directed serine/threonine kinase—promotes other RNA-binding proteins by disrupting nuclear import. NLK levels selectively elevated in neurons exhibiting ALS patient tissues, while genetic reduction reduces toxicity human neuron models ALS....

10.1101/2025.01.27.635090 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2025-01-28

Summary Loss of function (LoF) Tar-binding protein 43 (TDP-43) and mislocalization, together with TDP-43-positive hyperphosphorylated inclusions, are found in postmortem tissue amyotrophic lateral sclerosis (ALS) frontotemporal dementia (FTD) patients, including those carrying LoF variants the progranulin gene ( GRN ). Modelling TDP-43 pathology has been challenging vivo vitro . We present a 3D-induced pluripotent stem cell (iPSC)-derived paradigm - mature brain organoids (mbOrg) composed...

10.1101/2022.10.24.513566 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2022-10-25
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