Publications by authors named "Marilisa Conenna"
Mitofusin-2 (MFN2), a large GTPase residing in the mitochondrial outer membrane and mutated in Charcot-Marie-Tooth type 2 disease (CMT2A), is a regulator of mitochondrial fusion and tethering with the ER. The role of MFN2 in mitochondrial transport has however remained elusive. Like MFN2, acetylated microtubules play key roles in mitochondria dynamics.
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- The Sonic Hedgehog (SHH) pathway is vital for embryonic development, and its disruption can lead to medulloblastoma (MB), the most common brain tumor in children.
- Research shows that the transcription factor SALL4 is reactivated in SHH-MB, correlating with poorer survival outcomes for patients.
- SALL4 interacts with the tumor suppressor REN and is regulated by the CRL3 complex, indicating that targeting SALL4 could be a potential therapeutic strategy for treating SHH-dependent cancers.
Natural products (NPs) are highly profitable pharmacological tools due to their chemical diversity and ability to modulate biological systems. Accessing new chemical entities while retaining the biological relevance of natural chemotypes is a fundamental goal in the design of novel bioactive compounds. Notably, NPs have played a crucial role in understanding Hedgehog (HH) signalling and its pharmacological modulation in anticancer therapy.
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- * Mitofusin-2 (MFN2), a protein involved in mitochondrial functions and linked to Charcot-Marie-Tooth disease, was found to help recruit the enzyme that acetylates alpha-tubulin, which is crucial for mitochondrial transport.
- * Mutations in MFN2 related to CMT2A may lead to axonal degeneration by hindering the process that allows the release of the acetylation enzyme, implicating disturbances in tubulin acetylation as a factor in the disease.