Project description:Neurofibromatosis type 1 is an autosomal dominant genetic disease and a common tumor predisposition syndrome that affects 1 in 3000 to 4000 patients in the USA. Although studies have been conducted to better understand and manage this disease, the underlying pathogenesis of neurofibromatosis type 1 has not been completely elucidated, and this disease is still associated with significant morbidity and mortality. Treatment options are limited to surgery with chemotherapy for tumors in cases of malignant transformation. In this review, we summarize the advances in the development of targeted pharmacological interventions for neurofibromatosis type 1 and related conditions.

| S-EPMC8345673 | biostudies-literature

Transcriptomic analysis of the peripheral nervous system of Schwann cell-conditional FASN knockout mice

Project description:Myelination calls for a tremendous surge in cell metabolism towards lipids and membrane production. However, functional relevance of de novo fatty acid synthesis in myelinating cells remains unclear. We generated mutant mice in which the enzyme fatty acid synthase (FASN) was depleted conditionally in Schwann cells, the myelinating glial cells of the peripheral nervous system. To address how lack of FASN was affecting the development of the peripheral nervous system, we screened with an Affymetrix Transcriptomic approach the transcriptome of sciatic nerves and roots of P60 FASN mutant mice, comparing to control mice.

2018-02-02 | GSE71373 | GEO

Quantitative Microproteomics Based Characterization of the Central and Peripheral Nervous System of a Mouse Model of Krabbe Disease

Project description:In-depth characterization of the proteome of the Twitcher mouse, a mouse model for Krabbe disease, to investigate the proteome changes in the Central and Peripheral Nervous System.We applied a TMT-based workflow to compare the proteomes of the corpus callosum, motor cortex and sciatic nerves of littermate Twitcher and wild-type mice.

2019-04-04 | PXD010594 | Pride

Crosstalk between the diseased atherosclerotic aorta and the peripheral nervous system

Project description:Crosstalk between the diseased atherosclerotic aorta and the peripheral nervous system

| PRJNA368642 | ENA