Complexity and specificity of Sec61-channelopathies: human diseases affecting gating of the Sec61 complex

M Sicking, S Lang, F Bochen, A Roos, JPH Drenth… - Cells, 2021 - mdpi.com
The rough endoplasmic reticulum (ER) of nucleated human cells has crucial functions in
protein biogenesis, calcium (Ca2+) homeostasis, and signal transduction. Among the …

The role of heat shock proteins (HSPs) in type 2 diabetes mellitus pathophysiology

A Esmaeilzadeh, V Mohammadi, R Elahi… - Journal of Diabetes and …, 2023 - Elsevier
Type 2 diabetes mellitus (T2DM) is a metabolic disorder characterized by sustained
hyperglycemia caused by impaired insulin signaling and secretion. Metabolic stress, caused …

[PDF][PDF] Ghrelin deletion and conditional ghrelin cell ablation increase pancreatic islet size in mice

D Gupta, AW Burstein, DC Schwalbe… - Journal of Clinical …, 2023 - Am Soc Clin Investig
Ghrelin exerts key effects on islet hormone secretion to regulate blood glucose levels. Here,
we sought to determine whether ghrelin's effects on islets extend to the alteration of islet size …

In depth functional characterization of human induced pluripotent stem cell-derived beta cells in vitro and in vivo

F Fantuzzi, S Toivonen, AA Schiavo, H Chae… - Frontiers in Cell and …, 2022 - frontiersin.org
In vitro differentiation of human induced pluripotent stem cells (iPSCs) into beta cells
represents an important cell source for diabetes research. Here, we fully characterized iPSC …

A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes

S Merz, V Senee, A Philippi, F Oswald, M Shaigan… - Cell Reports, 2024 - cell.com
In a patient with permanent neonatal syndromic diabetes clinically similar to cases with
ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of …

Inhibition of the type 1 diabetes candidate gene PTPN2 aggravates TNF-α-induced human beta cell dysfunction and death

A Roca-Rivada, S Marín-Cañas, ML Colli, C Vinci… - Diabetologia, 2023 - Springer
Aims/hypothesis TNF-α plays a role in pancreatic beta cell loss in type 1 diabetes mellitus. In
clinical interventions, TNF-α inhibition preserves C-peptide levels in early type 1 diabetes. In …

Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3

MJ Jennings, D Hathazi, CDL Nguyen… - Frontiers in Cell and …, 2021 - frontiersin.org
Recessive mutations in DNAJC3, an endoplasmic reticulum (ER)-resident BiP co-
chaperone, have been identified in patients with multisystemic neurodegeneration and …

[HTML][HTML] NR5A2/LRH-1 regulates the PTGS2-PGE2-PTGER1 pathway contributing to pancreatic islet survival and function

EM Vázquez, N Cobo-Vuilleumier, RA Legido… - Iscience, 2022 - cell.com
Summary LRH-1/NR5A2 is implicated in islet morphogenesis postnatally, and its activation
using the agonist BL001 protects islets against apoptosis, reverting hyperglycemia in mouse …

Differentially Expressed Genes Regulating Glutathione Metabolism, Protein-Folding, and Unfolded Protein Response in Pancreatic β-Cells in Type 2 Diabetes Mellitus

E Klyosova, I Azarova, S Buikin… - International Journal of …, 2023 - mdpi.com
Impaired redox homeostasis in the endoplasmic reticulum (ER) may contribute to proinsulin
misfolding and thus to activate the unfolded protein response (UPR) and apoptotic …

Endoplasmic reticulum stress in pancreatic β-cell dysfunctionality and diabetes mellitus: a promising target for generation of functional hPSC-derived β-cells in vitro

A Diane, A Allouch, RBA Mu-U-Min… - Frontiers in …, 2024 - frontiersin.org
Diabetes mellitus (DM), is a chronic disorder characterized by impaired glucose
homeostasis that results from the loss or dysfunction of pancreatic β-cells leading to type 1 …