Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …

Hereditary optic neuropathies result from defects in the human genome, both nuclear and
mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy …

Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the
WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive …

Mitochondrial dysfunction involving mitochondria-associated ER membrane (MAM)
dysregulation is implicated in the pathogenesis of late-onset neurodegenerative diseases …

Mutations in WFS1 (which encodes Wolframin, WFS1) and CISD2 (which encodes CDGSH
iron sulfur domain 2) result in Wolfram syndrome (WS), a rare genetic disorder that starts …

Abstract LP Li, L. Venkataraman, S. Chen, and HJ Fu. Function of WFS1 and WFS2 in the
Central Nervous System: Implications for Wolfram Syndrome and Alzheimer's Disease …

Calcium ions serve as key intracellular signals. Local, transient increases in calcium
concentrations can activate calcium sensor proteins that in turn trigger downstream effectors …

OBJECTIVE To evaluate the pattern of vision loss and genotype-phenotype correlations in
WFS1-associated optic neuropathy (WON). DESIGN Multicenter cohort study. METHODS …

Highlights•Wolfram syndrome (WS) is a rare, incurable disease caused by mutations in the
WFS1 gene.•Clinical hallmarks of WS include childhood-onset of diabetes mellitus and …

Aims/hypothesis Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in
childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene …