Article

Defective Schwann cell lipid metabolism alters plasma membrane dynamics in Charcot-Marie-Tooth disease 1A

2023-04-02

Abstract excerpt

Duplication of PMP22 causes Charcot-Marie-Tooth disease type 1A (CMT1A) and is known to disrupt the lipid metabolism in myelinating Schwann cells by unknown mechanisms. By using two CMT1A mouse models overexpressing human PMP22 , we discovered that PMP22 dose-dependently downregulates genes that are involved in lipid and cholesterol metabolism. Lipidomic analysis on CMT1A mouse sciatic nerves confirmed lipid me...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 943bbc38-8081-5735-acc5-55be8bfcf6c6
DOI: 10.1101/2023.04.02.535224

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Defective Schwann cell lipid metabolism alters plasma membrane dynamics in Charcot-Marie-Tooth disease 1ADOI 10.1101/2023.04.02.535224Read

Roles for PMP22 in Schwann cell cholesterol homeostasis in health and disease.Semantic proximity Read

Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22.Semantic proximity Read

PMP2/FABP8 induces PI(4,5)P2-dependent transbilayer reorganization of sphingomyelin in the plasma membrane.Semantic proximity Read

Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humansSemantic proximity Read

Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A PatientsSemantic proximity Read

Peripheral myelin protein 22 alters membrane architecture.Semantic proximity Read

Single‐cell RNA ‐seq uncovers novel metabolic functions of Schwann cells beyond myelinationSemantic proximity Read

CMT1A current gene therapy approaches and promising biomarkersSemantic proximity Read

Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.Semantic proximity Read

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.Semantic proximity Read

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.Semantic proximity Read

Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.Semantic proximity Read