Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene.

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurodegenerative diseases characterized by iron accumulation in the brain. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a subtype of NBIA caused by an autosomal recessive mutation in the C19orf12 gene. In this work, we generated and characterized four lines of human induced pluripotent stem cell (hiPSCs) derived from dermal fibroblasts of patients carrying homozygous mutation c.

Metabolic impairments in neurodegeneration with brain iron accumulation.

Neurodegeneration with brain iron accumulation (NBIA) is a broad, heterogeneous group of rare inherited diseases (1-3 patients/1,000,000 people) characterized by progressive symptoms associated with excessive abnormal iron deposition in the brain. Approximately 15,000-20,000 individuals worldwide are estimated to be affected by NBIA. NBIA is usually associated with slowly progressive pyramidal and extrapyramidal symptoms, axonal motor neuropathy, optic nerve atrophy, cognitive impairment and neuropsychiatric disorders.

Stearoyl-CoA desaturase 1 deficiency exacerbates palmitate-induced lipotoxicity by the formation of small lipid droplets in pancreatic β-cells.

The accelerating accumulation of surplus lipids in the pancreas triggers structural and functional changes in type 2 diabetes-affected islets. Pancreatic β-cells exhibit a restricted capacity to store fat reservoirs in lipid droplets (LDs), which act as transient buffers to prevent lipotoxic stress. With the increasing incidence of obesity, growing interest has been seen in the intracellular regulation of LD metabolism for β-cell function.

Breast cancer chemotherapy induces vascular dysfunction and hypertension through a NOX4-dependent mechanism.

Cardiovascular disease is the major cause of morbidity and mortality in breast cancer survivors. Chemotherapy contributes to this risk. We aimed to define the mechanisms of long-term vascular dysfunction caused by neoadjuvant chemotherapy (NACT) and identify novel therapeutic targets.

SCD1 regulates the AMPK/SIRT1 pathway and histone acetylation through changes in adenine nucleotide metabolism in skeletal muscle.

Stearoyl-CoA desaturase (SCD) is a rate-limiting enzyme that catalyzes the synthesis of monounsaturated fatty acids. It plays an important role in regulating skeletal muscle metabolism. Lack of the SCD1 gene increases the rate of fatty acid β-oxidation through activation of the AMP-activated protein kinase (AMPK) pathway and the upregulation of genes that are related to fatty acid oxidation.

Spotlight on epigenetics as a missing link between obesity and type 2 diabetes.

Type 2 diabetes (T2D) is a complex disorder that is caused by a combination of genetic, epigenetic, and environmental factors. β-cell failure and insulin resistance in peripheral tissues that are induced by lipid overload are main hallmarks of T2D. The mechanisms that link obesity-driven alterations of lipid metabolism and T2D are still elusive, thereby impeding the development of effective prevention and treatment strategies.

Functional and evolutionary analyses of Helicobacter pylori HP0231 (DsbK) protein with strong oxidative and chaperone activity characterized by a highly diverged dimerization domain.

Helicobacter pylori does not encode the classical DsbA/DsbB oxidoreductases that are crucial for oxidative folding of extracytoplasmic proteins. Instead, this microorganism encodes an untypical two proteins playing a role in disulfide bond formation - periplasmic HP0231, which structure resembles that of EcDsbC/DsbG, and its redox partner, a membrane protein HpDsbI (HP0595) with a β-propeller structure. The aim of presented work was to assess relations between HP0231 structure and function.