Molecular Mechanisms of Rare and Inherited Neurodegenerative Diseases

Rare and inherited neurodegenerative diseases, including lysosomal storage disorders, inborn errors of metabolism, and single gene neurodegenerations, offer a direct window into the molecular logic of neuronal survival and decline. Because a defined genetic lesion sits at the origin of each condition, these diseases let researchers trace a clear line from mutation to molecular pathway to cellular failure, and the mechanisms they reveal often extend to the far more common sporadic neurodegenerative disorders. Despite this, the molecular events that convert an inherited defect into progressive neuronal loss remain incompletely understood, and much of this biology is still studied in isolation rather than as a set of converging pathways.This Research Topic focuses on the molecular and cellular mechanisms that drive rare and inherited neurodegenerative diseases. We invite work that dissects the pathways linking genetic and metabolic defects to neuronal dysfunction, including lysosomal and autophagic failure, proteostasis and protein misfolding, mitochondrial and metabolic disruption, lipid and membrane biology, organelle dysfunction, and disrupted intracellular signalling. Studies that use patient derived cells, model organisms, and molecular, genetic, and omics approaches to define these mechanisms are especially welcome, as are contributions that connect a specific inherited defect to a broader mechanism shared across neurodegeneration.We welcome contributions on:• Molecular pathways linking inherited genetic and metabolic defects to neuronal dysfunction• Lysosomal storage, autophagy, and endolysosomal failure in inherited neurodegeneration• Proteostasis, protein misfolding, and aggregation in single gene disorders linked to neuronal dysfunction and neurodegeneration• Mitochondrial and metabolic mechanisms of inherited neuronal decline• Lipid, membrane, and organelle biology in rare neurodegenerative diseases• Patient derived cells, model organisms, new model generation and omics approaches to neurodegeneration mechanism• Convergence of rare neurodegenerative disease mechanisms with common sporadic neurodegeneration Topic editors: Khushboo Singhal, Rahul Tyagi Source: https://www.frontiersin.org/research-topics/84841/molecular-mechanisms-of-rare-and-inherited-neurodegenerative-diseases