Results 21 to 30 of about 630 (120)

Loss of the CoA-degrading enzyme NUDT19 exacerbates albuminuria and disrupts renal lipid homeostasis in high fat diet-fed mice [PDF]

Scientific Reports
Nudix hydrolase 19 (NUDT19) is a peroxisomal enzyme that hydrolyzes CoA species at the phosphodiester bond and has been linked to peroxisomal dysfunction in the context of diabetic kidney disease.
Dominique C. Saporito, Rachel D. King, Schuyler D. Vickers, Emily A. Wyda, Sruthi Balaji, Saravanan Kolandaivelu, Neil Billington, Judy A. King, Roberta Leonardi   +8 more
doaj   +2 more sources

Expanded-access use of elamipretide in a patient with membrane protein-associated neurodegeneration. [PDF]

Clin Case Rep
Elamipretide mechanism of action: Restoration of physiologically normal energetics. Key Clinical Message This case report presents a progressively declining 17‐year‐old patient with membrane protein‐associated neurodegeneration who demonstrated symptomatic improvements in her dysarthria, dysphagia, and gait, and objective improvements in her 6‐minute ...
Patino J, Clearman AH, Miller L, Koenig MK.   +3 more
europepmc   +2 more sources

C19orf12 inhibits mitochondrial function and enhances the antitumor effects of metformin in non-small cell lung cancer

Cell Reports
Summary: Glucose metabolic reprogramming from oxidative phosphorylation to glycolysis is a hallmark of cancer, yet the mechanisms driving aerobic glycolysis are unclear.
Ran Liu, Meng Zhao, Xinrui Zhang, Hao Wu, Li Ren, Junqiang Lv, Zhe Liu, Quan Wang, Zhi Yao   +8 more
doaj   +3 more sources

A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

Oman Medical Journal, 2017
Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder. To the best of our knowledge, this is the first report
Nabil Al Macki, Ismail Al Rashdi
doaj   +2 more sources

Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN) [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is caused by pathogenic sequence variants in C19orf12. Autosomal recessive inheritance has been demonstrated.
Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahic, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van derWeijden, Vy Nguyen, Naly Setthavongsack, Daphne Garcia, Victoria Krajbich, Thao Pham, Randy Woltjer, Benjamin P. George, Kelly Q. Minks, Alexander R. Paciorkowski, Penelope Hogarth, Joseph Jankovic, Susan J. Hayflick   +24 more
doaj   +2 more sources

Comparison of immune cells and diagnostic markers between spondyloarthritis and rheumatoid arthritis by bioinformatics analysis [PDF]

Journal of Translational Medicine, 2022
Background Spondyloarthritis (SpA) and rheumatoid arthritis (RA) are chronic autoimmune diseases, but they are usually difficult to distinguish in the early stage of the diseases.
Jiaqian Wang, Yuan Xue, Liang Zhou
doaj   +2 more sources

When Pathways Converge: Iron, Lipid Peroxidation, and α-Synuclein in Ferroptosis-Driven Dopaminergic Neurodegeneration. [PDF]

J Neurochem
Dopaminergic neurons are particularly susceptible to ferroptosis. Pacemaking activity–driven calcium (Ca2+) influx increases metabolic demand and reactive oxygen species (ROS) production, promoting iron release from aconitase. Alpha‐synuclein (α‐syn) enhances iron uptake via transferrin receptor 1 (TfR1) and exhibits ferrireductase activity, converting
Sperlich CL, Stockwell BR, Farina M.
europepmc   +2 more sources

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

Stem Cell Research
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 ...
Ewelina Krogulec, Aneta M. Dobosz, Ewa Liszewska, Lena Majchrowicz, Agnieszka Dobrzyń   +4 more
doaj   +2 more sources

Genome-wide transcriptome analysis of Aβ deposition on PET in a Korean cohort. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Despite the recognized importance of including ethnic diversity in Alzheimer's disease (AD) research, substantial knowledge gaps remain, particularly in Asian populations. METHODS RNA sequencing was performed on blood samples from the Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's Disease (KBASE) to
Park T, Hwang J, Liu S, Chaudhuri S, Han SW, Yi D, Byun MS, Huang YN, Rosewood T, Jung G, Kim MJ, Ahn H, Lee JY, Kim YK, Cho M, Bice PJ, Craft H, Risacher SL, Gao H, Liu Y, Kim S, Park YH, Lee DY, Saykin AJ, Nho K.   +24 more
europepmc   +2 more sources

RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation. [PDF]

Case Rep Neurol Med
Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Posa A, Kornhuber M.
europepmc   +2 more sources