Amelia L Persico, 1, 2 Erica L Wegrzyn, 1, 2 Jeffrey Fudin, 1, 2 Michael E Schatman 3, 4 1Stratton VA Medical Center, Albany, NY, USA; 2Remitigate Therapeutics, Delmar, NY, USA; 3Tufts University School of Dental Medicine, Boston, MA, USA; 4Tufts University School of Medicine, Boston, MA, USACorrespondence: Jeffrey Fudin Email [email protected] The o
The glycogen storage diseases (GSDs) comprise a group mens-clothing of rare inherited disorders of glycogen metabolism.The hepatic glycogenolytic forms of these disorders are typically associated with hypoglycemia and hepatomegaly.For GSD I, secondary metabolic disturbances include fasting hyperlactatemia, hyperuricemia, and hyperlipidemia.Glycogen
KELCH-ECH-associated protein 1 (KEAP1) is an adaptor protein of Cullin 3 (CUL3) E3 ubiquitin ligase that targets a redox sensitive transcription factor, NF-E2-related factor 2 (NRF2).BRCA1-associated protein 1 (BAP1) is a tumor suppressor and deubiquitinase whose mutations increase the risk of several types of familial cancers.In the present study,
The paper establishes the Himmerkinlahti Member, which is a thin metamorphosed conglomerate-sandstone unit within the middle part of the early Proterozoic (Karelian) supracrustal sequence of Pro Audio the Kuusamo Belt, northern Finland.Polymictic conglomerate beds with intra-Karelian supracrustal and (meta)diabase clasts and abundant hematite miner
Long-read sequencing facilitates assembly of complex genomic regions.In plants, loci containing nucleotide-binding, leucine-rich repeat (NLR) disease resistance genes are an important example of such regions.NLR genes constitute one of the largest gene families in plants and are often clustered, evolving via duplication, contraction, and transposit