Clinical and Basic Aspects of Neurofibromatosis Type 1

doi:10.5772/intechopen.92953

2022

DOI: 10.5772/intechopen.92953

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Clinical and Basic Aspects of Neurofibromatosis Type 1

Abstract: He obtained a Ph.D. in Immune Dermatology and worked as a Ph.D.

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2024

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Drosophila Contributions towards Understanding Neurofibromatosis 1

Atsoniou,

Giannopoulou,

Georganta

et al. 2024

Cells

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Neurofibromatosis 1 (NF1) is a multisymptomatic disorder with highly variable presentations, which include short stature, susceptibility to formation of the characteristic benign tumors known as neurofibromas, intense freckling and skin discoloration, and cognitive deficits, which characterize most children with the condition. Attention deficits and Autism Spectrum manifestations augment the compromised learning presented by most patients, leading to behavioral problems and school failure, while fragmented sleep contributes to chronic fatigue and poor quality of life. Neurofibromin (Nf1) is present ubiquitously during human development and postnatally in most neuronal, oligodendrocyte, and Schwann cells. Evidence largely from animal models including Drosophila suggests that the symptomatic variability may reflect distinct cell-type-specific functions of the protein, which emerge upon its loss, or mutations affecting the different functional domains of the protein. This review summarizes the contributions of Drosophila in modeling multiple NF1 manifestations, addressing hypotheses regarding the cell-type-specific functions of the protein and exploring the molecular pathways affected upon loss of the highly conserved fly homolog dNf1. Collectively, work in this model not only has efficiently and expediently modelled multiple aspects of the condition and increased understanding of its behavioral manifestations, but also has led to pharmaceutical strategies towards their amelioration.

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Drosophila Contributions towards Understanding Neurofibromatosis 1

Atsoniou,

Giannopoulou,

Georganta

et al. 2024

Cells

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show abstract

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Clinical and Basic Aspects of Neurofibromatosis Type 1

Abstract: He obtained a Ph.D. in Immune Dermatology and worked as a Ph.D.

Cited by 1 publication

References 4 publications

Drosophila Contributions towards Understanding Neurofibromatosis 1

Drosophila Contributions towards Understanding Neurofibromatosis 1

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