Publications by authors named "Giulia Stuppia"
Charcot-Marie-Tooth 2A (CMT2A) is an inherited peripheral neuropathy caused by mutations in MFN2, which encodes a mitochondrial membrane protein involved in mitochondrial network homeostasis. Because MFN2 is expressed ubiquitously, the reason for selective motor neuron (MN) involvement in CMT2A is unclear. To address this question, we generated MNs from induced pluripotent stem cells (iPSCs) obtained from the patients with CMT2A as an in vitro disease model.
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- Mitofusin 2 (MFN2) is a protein critical for mitochondrial functions such as fusion and transport, and is encoded by the MFN2 gene on chromosome 1.
- Mutations in the MFN2 gene are linked to Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder affecting both the central and peripheral nervous systems.
- The study discusses the clinical and genetic features of MFN2-related diseases and highlights the potential for understanding mitochondrial dysfunction in neurodegenerative diseases, paving the way for new therapeutic targets.
Motor neuron diseases (MNDs) are neuromuscular disorders affecting rather exclusively upper motor neurons (UMNs) and/or lower motor neurons (LMNs). The clinical phenotype is characterized by muscular weakness and atrophy leading to paralysis and almost invariably death due to respiratory failure. Adult MNDs include sporadic and familial amyotrophic lateral sclerosis (sALS-fALS), while the most common infantile MND is represented by spinal muscular atrophy (SMA).
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