A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome

Background Wolfram syndrome (WS) is a disorder characterized by the association of insulin‐dependent diabetes mellitus (DM), diabetes insipidus, deafness, and optic nerve atrophy. WS is caused by WFS1 mutations encoding WFS1 protein expressed in endoplasmic reticulum (ER). During ER protein synthesi...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Pediatric diabetes 2017-12, Vol.18 (8), p.934-941
Hauptverfasser:	Morikawa, Shuntaro, Tajima, Toshihiro, Nakamura, Akie, Ishizu, Katsura, Ariga, Tadashi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine triphosphatase Amino acids Apoptosis Atrophy Ca2+-transporting ATPase calcium Calcium (reticular) Calcium - metabolism Calcium efflux Calcium homeostasis Calcium signalling Calcium transport Clonal deletion Deafness Diabetes Diabetes insipidus Diabetes mellitus Endoplasmic reticulum Endoplasmic Reticulum Stress ER stress Female Gene deletion Gene expression Hearing loss Heterozygote Homeostasis Humans Infant Insulin Lymphocytes T Membrane Proteins - genetics Membrane Proteins - metabolism Mutation Optic nerve Protein biosynthesis Protein folding Proteins Sarcoplasmic Reticulum Calcium-Transporting ATPases - metabolism Thapsigargin Transcription Factor CHOP - metabolism WFS1 Wolfram syndrome Wolfram Syndrome - diagnosis Wolfram Syndrome - genetics Wolfram Syndrome - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!