<i>WDR45</i>, one gene associated with multiple neurodevelopmental disorders
Yingying Cong, Vincent So, Marina A.J. Tijssen, Dineke S. Verbeek, Fulvio Reggiori, Mario Mauthe
Abstract
ATG/Atg: autophagy related; BPAN: ß-propeller protein associated neurodegeneration; CNS: central nervous system; DEE: developmental and epileptic encephalopathy; EEG: electroencephalograph; ENO2/neuron-specific enolase, enolase 2; EOEE: early-onset epileptic encephalopathy; ER: endoplasmic reticulum; ID: intellectual disability; IDR: intrinsically disordered region; MRI: magnetic resonance imaging; NBIA: neurodegeneration with brain iron accumulation; NCOA4: nuclear receptor coactivator 4; PtdIns3P: phosphatidylinositol-3-phosphate; RLS: Rett-like syndrome; WDR45: WD repeat domain 45; WIPI: WD repeat domain, phosphoinositide interacting.
Topics & Concepts
BiologyNeurodegenerationEndoplasmic reticulumNeuroscienceAutophagyEpilepsyGeneticsDiseasePathologyMedicineApoptosisNeurological diseases and metabolismTrace Elements in HealthPorphyrin Metabolism and Disorders