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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: chondrodysplasia punctata (CPD) is a clinically and genetically heterogeneous group of disorders characterised by abnormal punctate calcification of the bones (stippling). CDP X-linked recessive, brachytelephalangic type (CDPX1) is caused by mutations of ARSE, coding for the Golgi enzyme arylsulphatase-E. Sulphatases hydrolyse sulphate ester bonds in many molecules, including glycosaminoglycans, sulpholipids and steroid sulphates. In vitro studies demonstrate that warfarin inhibits ARSE function. CDP Conradi-Hünermann type (CDPX2) or X-linked dominant CPD, is the most well-characterised form and is caused by mutations in EBP, encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein, an enzyme involved in the biosynthesis of cholesterol. Rhizomelic CDP (RCDP) is caused by defective peroxisome metabolism and is transmitted in an autosomal recessive manner. The majority of patients affected by RCDP present the subtype RCDP1, determined by mutations in PEX7, encoding the peroxisomal targeting signal 2 receptor, which plays an important role in peroxisomal protein import. RCDP2 is caused by mutations in GNPAT, encoding dihydroxyacetone phosphate acyltransferase, RCDP3 is associated with mutations in AGPS, encoding peroxisomal alkyldihydroxyacetone phosphate synthase. The cause of CDP tibial-metacarpal type is currently unknown.
Beyond the amyloid hypothesis: how current research implicates autoimmunity in Alzheimer’s disease pathogenesis
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Miyo K. Chatanaka, Dorsa Sohaei, Eleftherios P. Diamandis, Ioannis Prassas
Sim et al. used a high throughput screening method based on random peptide microarrays of 29,240 unbiased peptides in 19 AD and 19 non-demented age-matched all-female plasma samples [328]. The team identified 110 candidate antibody-binding targets that were upregulated, and 30 that were downregulated. In addition, hierarchical clustering analysis of the selected peptides showed that only the upregulated IgG and IgM could categorically divide the two groups. Some of these target proteins are SOS1, TNFRSF21, ATM, and S100A1 (recognized by IgG upregulation), SOS1 and SP4 (recognized by IgM upregulation), and GNPAT and CNTN2 (recognized by IgM downregulation). Due to the large number of proteins identified, these autoantibodies will not be summarized in Table 1. The full list of proteins/autoantibodies is described by Sim et al. [328].
The mechanisms and therapeutic targets of ferroptosis in cancer
Published in Expert Opinion on Therapeutic Targets, 2021
Long Ye, Fengyan Jin, Shaji K. Kumar, Yun Dai
LOXs are responsible for LPO and ferroptosis. In some types of cells with low expression of arachidonate lipoxygenases (ALOXs), ALOXs however do not affect the sensitivity to ferroptosis, suggesting additional pathways involved in LPO. For example, cytochrome P450 oxidoreductase (POR) also mediates the peroxidation of polyunsaturated phospholipids, while POR depletion significantly reduces the sensitivity to RSL3[18]. NADH-cytochrome b5 reductase 1 (CYB5R1) catalyzes LPO with assistance of POR, together promoting ferroptosis[19]. In addition to PUFAs, polyunsaturated ether phospholipids (PUFA-ePLs) are also susceptible to peroxidation. In the endoplasmic reticulum (ER), PUFA-ePLs are synthesized from acetal phospholipids generated in the peroxisomes, an event mediated by peroxisomal enzymes such as alkylglycerone phosphate synthase (AGPS), fatty acyl-CoA reductase 1 (FAR1), and glyceronephosphate O-acyltransferase (GNPAT). Therefore, the peroxisomal ether-phospholipid axis may determine susceptibility to ferroptosis[20].
A conjunctive lipidomic approach reveals plasma ethanolamine plasmalogens and fatty acids as early diagnostic biomarkers for colorectal cancer patients
Published in Expert Review of Proteomics, 2020
Tong Liu, Zhirong Tan, Jing Yu, Feng Peng, Jiwei Guo, Wenhui Meng, Yao Chen, Tai Rao, Zhaoqian Liu, Jingbo Peng
PlsEtns are peroxisome-derived glycerophospholipids, in which the ether bond is attached at the sn-1 position of the glycerol backbone [32]. Seven steps are essential for plasmalogen synthesis; the first two steps take place in the peroxisomes [33]. The resident enzymes of a peroxisome are imported into the organelle by a transport system that consists of many proteins. The peroxisomal enzymes, alkylglycerone-phosphate synthase (AGPS), fatty alcohol reductase (FAR), and glyceronephosphate O-acyltransferase (GNPAT), as rate-limiting steps for plasmalogen biosynthesis, catalyze the key steps in the synthesis of 1-alkyl-dihydroxyacetone phosphate. In a colorectal cancer study, mRNA levels of the key peroxisomal enzymes (FAR2, AGPS, and GNPAT) were downregulated in adenomatous polyps and were increased in colon carcinoma compared with those in healthy patients [34]. In addition, elevated mRNA expression levels of FAR1, AGPS, and GNPAT were reported in lymphoma cells [35].