Monogenic diabetes

A Bonnefond, R Unnikrishnan, A Doria… - Nature Reviews …, 2023 - nature.com
Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

Monogenic diabetes: a gateway to precision medicine in diabetes

H Zhang, K Colclough, AL Gloyn… - The Journal of clinical …, 2021 - Am Soc Clin Investig
Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …

[PDF][PDF] ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

AT Hattersley, SAW Greeley, M Polak… - 2018 - ore.exeter.ac.uk
Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …

[HTML][HTML] ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

SAW Greeley, M Polak, PR Njølstad, F Barbetti… - Pediatric …, 2022 - ncbi.nlm.nih.gov
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …

Pathological β-cell endoplasmic reticulum stress in type 2 diabetes: current evidence

N Shrestha, E De Franco, P Arvan… - Frontiers in …, 2021 - frontiersin.org
The notion that in diabetes pancreatic β-cells express endoplasmic reticulum (ER) stress
markers indicative of increased unfolded protein response (UPR) signaling is no longer in …

Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models

L Crouzier, A Danese, Y Yasui, EM Richard… - Science translational …, 2022 - science.org
The Wolfram syndrome is a rare autosomal recessive disease affecting many organs with
life-threatening consequences; currently, no treatment is available. The disease is caused …

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

E De Franco, M Lytrivi, H Ibrahim… - The Journal of …, 2020 - Am Soc Clin Investig
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or
impairing β cell function. Understanding the genetic basis of rare diabetes subtypes …

ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome

M Liiv, A Vaarmann, D Safiulina, V Choubey… - Nature …, 2024 - nature.com
Wolfram syndrome is a rare genetic disease caused by mutations in the WFS1 or CISD2
gene. A primary defect in Wolfram syndrome involves poor ER Ca2+ handling, but how this …

WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells

L Wang, H Liu, X Zhang, E Song, Y Wang, T Xu… - Nature …, 2021 - nature.com
The sorting of soluble secretory proteins from the endoplasmic reticulum (ER) to the Golgi
complex is mediated by coat protein complex II (COPII) vesicles and thought to required …

Normal and defective pathways in biogenesis and maintenance of the insulin storage pool

M Liu, Y Huang, X Xu, X Li, M Alam… - The Journal of …, 2021 - Am Soc Clin Investig
Both basal and glucose-stimulated insulin release occur primarily by insulin secretory
granule exocytosis from pancreatic β cells, and both are needed to maintain normoglycemia …