25 research outputs found
Additional file 2: of An optimised method for the proteomic profiling of full thickness human skin
Table detailing the proteins identified in the final method (Fig. 2). (XLSX 120 kb
Additional file 1: of An optimised method for the proteomic profiling of full thickness human skin
Table detailing the proteins identifed in the original method (Fig. 1). (XLSX 19 kb
A New Method for the Rapid Diagnosis of Protein N‑linked Congenital Disorders of Glycosylation
The
Congenital Disorders of Glycosylation (CDG) are a devastating group
of genetic disorders that encompass a spectrum of glycosylation defects
and are characterized by the underglycosylation of or the presence
of abnormal glycans on glycoproteins. The N-linked CDG disorders (Type
I and II) are usually diagnosed in chemical pathology laboratories
by an abnormal serum transferrin isoelectric focusing (IEF) pattern.
Transferrin has been the protein of choice for CDG analysis because
it is well characterized, highly abundant, and easily detected in
plasma. However, IEF provides limited information on the glycosylation
defect and requires a separate and extensive glycan analysis to diagnose
CDG Type II. We have therefore developed a simple bead-based immunoaffinity
and mass spectrometry-based assay to address these issues. Our method
uses immuno-purified transferrin and proteolytic digestion followed
by a rapid 30 min mass spectral analysis and allows us to identify
both micro- and macroheterogeneity of transferrin by sequencing of
peptides and glycopeptides. In summary, we have developed a simple,
rapid test for N-linked glycosylation disorders that is a significant
improvement on existing laboratory tests currently used for investigating
defective N-linked glycosylation
Appendix 2. Phylogenetically independent contrasts: comparisons of somewhere-abundant (SA) and everywhere-sparse (ES) species of temperate rain forest.
Phylogenetically independent contrasts: comparisons of somewhere-abundant (SA) and everywhere-sparse (ES) species of temperate rain forest
Appendix 1. Phylogenetically independent contrasts: comparisons of somewhere-abundant (SA) and everywhere-sparse (ES) species of dry sclerophyll woodland.
Phylogenetically independent contrasts: comparisons of somewhere-abundant (SA) and everywhere-sparse (ES) species of dry sclerophyll woodland
The Identification of New Biomarkers for Identifying and Monitoring Kidney Disease and Their Translation into a Rapid Mass Spectrometry-Based Test: Evidence of Presymptomatic Kidney Disease in Pediatric Fabry and Type‑I Diabetic Patients
Using label-free quantative proteomics,
we have identified 2 potential
protein biomarkers that indicate presymptomatic kidney disease in
the urine of pediatric patients with type-I diabetes and Fabry disease
(<i>n</i> = 20). Prosaposin and GM<sub>2</sub> activator
protein (GM<sub>2</sub>AP) were observed to be elevated in the urine
of these patient groups compared to age- and sex-matched controls.
These findings were validated by development of a rapid MRM-based
tandem mass spectrometry test. Prosaposin was observed to be both
significantly elevated in the urine of patients with Fabry disease
compared to controls (<i>p</i> = 0.02) and reduced after
12 months enzyme replacement therapy (ERT, <i>p</i> = 0.01).
Similarly, GM<sub>2</sub>AP concentrations were observed to be significantly
higher compared to controls in the diabetic group (<i>p</i> = 0.049) and the pretreatment Fabry group (<i>p</i> =
0.003). In addition, this observed to be reduced significantly in
the Fabry group following 12 months of ERT (<i>p</i> = 0.01).
The process of detection of the biomarkers, development into a test
and implications for monitoring patients and treatment are discussed
Additional file 1: Table S1. of Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer’s disease
Details of patients with other neurodegenerative diseases. (DOCX 13 kb
Additional file 2: Table S2. of Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer’s disease
Characteristics of AD patients and controls sampled in a replication cohort. Data expressed as mean ± SD or median (IQR) as appropriate. Probability values (p) denote differences between control and AD. A χ2 test was used for gender and APOE genotype comparisons. CSF biomarkers and sTREM2 were evaluated using the Mann-Whitney U test. (DOCX 14 kb
Additional file 6: of The presubiculum is preserved from neurodegenerative changes in Alzheimer’s disease
Table S6. Webgestalt GO ontology terms showing decreased expression in the presubiculum compared to the entorhinal cortex in Alzheimer’s disease post-mortem brain tissue. (DOCX 18 kb