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) …

Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives

MT Pallotta, G Tascini, R Crispoldi, C Orabona… - Journal of translational …, 2019 - Springer
Background Wolfram syndrome (WS), a rare genetic disorder, is considered the best
prototype of endoplasmic reticulum (ER) diseases. Classical WS features are childhood …

Balancing ER-mitochondrial Ca2+ fluxes in health and disease

J Loncke, A Kaasik, I Bezprozvanny, JB Parys… - Trends in cell …, 2021 - cell.com
Organelles cooperate with each other to control cellular homeostasis and cell functions by
forming close connections through membrane contact sites. Important contacts are present …

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 …

Endoplasmic reticulum–mitochondria contact sites—emerging intracellular signaling hubs

S Aoyama-Ishiwatari, Y Hirabayashi - Frontiers in Cell and …, 2021 - frontiersin.org
It has become apparent that our textbook illustration of singular isolated organelles is
obsolete. In reality, organelles form complex cooperative networks involving various types of …

[HTML][HTML] The balancing act of NEET proteins: Iron, ROS, calcium and metabolism

R Nechushtai, O Karmi, K Zuo, HB Marjault… - … et Biophysica Acta (BBA …, 2020 - Elsevier
NEET proteins belong to a highly conserved group of [2Fe–2S] proteins found across all
kingdoms of life. Due to their unique [2Fesingle bond2S] cluster structure, they play a key …

Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

L Rigoli, P Bramanti, C Di Bella, F De Luca - Pediatric Research, 2018 - nature.com
Abstract Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative
disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and …

Disrupting CISD2 function in cancer cells primarily impacts mitochondrial labile iron levels and triggers TXNIP expression

O Karmi, YS Sohn, SI Zandalinas, L Rowland… - Free Radical Biology …, 2021 - Elsevier
Abstract The CISD2 (NAF-1) protein plays a key role in regulating cellular homeostasis,
aging, cancer and neurodegenerative diseases. It was found to control different calcium …

Dysregulated Ca2+ Homeostasis as a Central Theme in Neurodegeneration: Lessons from Alzheimer's Disease and Wolfram Syndrome

M Callens, J Loncke, G Bultynck - Cells, 2022 - mdpi.com
Calcium ions (Ca2+) operate as important messengers in the cell, indispensable for
signaling the underlying numerous cellular processes in all of the cell types in the human …

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

C La Morgia, A Maresca, G Amore, LL Gramegna… - Scientific reports, 2020 - nature.com
Wolfram syndrome (WS) is a recessive multisystem disorder defined by the association of
diabetes mellitus and optic atrophy, reminiscent of mitochondrial diseases. The role played …