Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
Neuronal autophagy and intercellular regulation of homeostasis in the brain
Highlights•Autophagy is a lysosomal degradation process essential for neuronal
survival.•Autophagy is a highly compartmentalized process in neurons.•Intercellular …
survival.•Autophagy is a highly compartmentalized process in neurons.•Intercellular …
The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation
KJ Hoff, AJ Neumann, JK Moore - Frontiers in cellular neuroscience, 2022 - frontiersin.org
Heterozygous, missense mutations in both α-and β-tubulin genes have been linked to an
array of neurodevelopment disorders, commonly referred to as “tubulinopathies.” To date …
array of neurodevelopment disorders, commonly referred to as “tubulinopathies.” To date …
Organization of the autophagy pathway in neurons
DK Sidibe, MC Vogel, S Maday - Current opinion in neurobiology, 2022 - Elsevier
Macroautophagy (hereafter referred to as autophagy) is an essential quality-control pathway
in neurons, which face unique functional and morphological challenges in maintaining the …
in neurons, which face unique functional and morphological challenges in maintaining the …