Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Vitamin B12 Deficiency Associated with Metformin and Proton Pump Inhibitors and Their Combinations: Results from a Disproportionality and Interaction Analysis. [PDF]
Sridharan K.
europepmc +1 more source
SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1
Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl +13 more
wiley +1 more source
Case Report: Severe gastric atrophy associated with a novel homozygous variant in <i>LRBA</i>. [PDF]
Yuan S, Li T, Tong Y, Wang Z.
europepmc +1 more source
P580 Iron deficiency anaemia and quality of life in Inflammatory Bowel Disease: Prospective cohort study of ferric derisomaltose on quality of life and work productivity in patients with IBD [PDF]
James Goodhand +4 more
openalex +1 more source
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid +3 more
wiley +1 more source
The correlation between traditional Chinese medicine constitutions and chronic kidney disease-associated pruritus among hemodialysis patients in Macau. [PDF]
Chuang YC +4 more
europepmc +1 more source
We investigated the toxicity of 12 active compounds commonly found in herbal weight loss supplements (WLS) using human liver and colon cell models. Epigallocatechin‐3‐gallate was the only compound showing significant toxicity. Metabolic profiling revealed protein degradation, disrupted energy and lipid metabolism suggesting that the inclusion of EGCG ...
Emily C. Davies +3 more
wiley +1 more source

