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 …

Dysregulated neurite outgrowth and synapse formation underlie many psychiatric disorders,
which are also manifested by wolfram syndrome (WS). Whether and how the causative gene …

The KDEL receptor retrieval pathway is essential for maintaining resident proteins in the
endoplasmic reticulum (ER) lumen. ER resident proteins serve a variety of functions …

Aims: Wolfram syndrome type 1 is a rare recessive monogenic form of insulin-dependent
diabetes mellitus with progressive neurodegeneration, poor prognosis, and no cure. Based …

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 …

Abstract Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the
WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness …

PURPOSE To describe the clinical phenotype of a cohort of patients with Wolfram syndrome
(WS), focusing on the pattern of optic atrophy correlated with brain magnetic resonance …

Inherited neurodegeneration of the optic nerve is a paradigm in neurology, as many forms of
isolated or syndromic optic atrophy are encountered in clinical practice. The retinal ganglion …

Mitochondria‐endoplasmic reticulum contacts (MERCs) mediate a close and continuous
communication between both organelles that is essential for the transfer of calcium and …