Publications by authors named "Valentina Botero"

Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder.

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Article Synopsis
  • Genetic disorders like neurofibromatosis type 1 (NF1) can increase the risk of cognitive and behavioral issues, such as autism and ADHD, due to mutations in the neurofibromin gene that reduce the neurofibromin protein.
  • Research shows that reduced neurofibromin alters grooming behaviors in model organisms, increasing the frequency and pattern of grooming while indicating that these behaviors adapt based on internal states like hunger.
  • Although loss of neurofibromin affects grooming and walking speed, it does not impair overall motor coordination, highlighting a unique impact on behavior rather than gross motor skills.
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Neural regulation of sleep and metabolic homeostasis are critical in many aspects of human health. Despite extensive epidemiological evidence linking sleep dysregulation with obesity, diabetes, and metabolic syndrome, little is known about the neural and molecular basis for the integration of sleep and metabolic function. The RAS GTPase-activating gene Neurofibromin (Nf1) has been implicated in the regulation of sleep and metabolic rate, raising the possibility that it serves to integrate these processes, but the effects on sleep consolidation and physiology remain poorly understood.

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Anatomical and physiological compartmentalization of neurons is a mechanism to increase the computational capacity of a circuit, and a major question is what role axonal compartmentalization plays. Axonal compartmentalization may enable localized, presynaptic plasticity to alter neuronal output in a flexible, experience-dependent manner. Here, we show that olfactory learning generates compartmentalized, bidirectional plasticity of acetylcholine release that varies across the longitudinal compartments of mushroom body (MB) axons.

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How changes in brain scaling relate to altered behavior is an important question in neurodevelopmental disorder research. Mice with germline haploinsufficiency ( ) closely mirror the abnormal brain scaling and behavioral deficits seen in humans with macrocephaly/autism syndrome, which is caused by mutations. We explored whether deviation from normal patterns of growth can predict behavioral abnormalities.

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Neurofibromatosis type 1 is a chronic multisystemic genetic disorder that results from loss of function in the neurofibromin protein. Neurofibromin may regulate metabolism, though the underlying mechanisms remain largely unknown. Here we show that neurofibromin regulates metabolic homeostasis in Drosophila via a discrete neuronal circuit.

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Neurofibromatosis type 1 is a monogenetic disorder that predisposes individuals to tumor formation and cognitive and behavioral symptoms. The neuronal circuitry and developmental events underlying these neurological symptoms are unknown. To better understand how mutations of the underlying gene (NF1) drive behavioral alterations, we have examined grooming in the Drosophila neurofibromatosis 1 model.

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