40 results on '"Blair, Ian"'
Search Results
2. Protein Disulfide Isomerase Endoplasmic Reticulum Protein 57 (ERp57) is Protective Against ALS-Associated Mutant TDP-43 in Neuronal Cells
3. Expression and processing of mature human frataxin after gene therapy in mice
4. Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)
5. HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1
6. C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD
7. Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort
8. Chimeric kinase ALK induces expression of NAMPT and selectively depends on this metabolic enzyme to sustain its own oncogenic function
9. The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis
10. ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation
11. Failure to apply standard limit-of-detection or limit-of-quantitation criteria to specialized pro-resolving mediator analysis incorrectly characterizes their presence in biological samples
12. Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy
13. Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
14. Association between DNA methylation variability and self-reported exposure to heavy metals
15. Ruxolitinib and exemestane for estrogen receptor positive, aromatase inhibitor resistant advanced breast cancer
16. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
17. Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration
18. DNA methylation in Friedreich ataxia silences expression of frataxin isoform E
19. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
20. Effects of systemic inflammation on relapse in early breast cancer
21. Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress
22. FBP1 loss disrupts liver metabolism and promotes tumorigenesis through a hepatic stellate cell senescence secretome
23. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
24. Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases
25. Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis
26. Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich’s ataxia
27. Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations
28. Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy
29. Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes
30. Effect of Differences in Metabolic Activity of Melanoma Models on Response to Lonidamine plus Doxorubicin
31. Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features
32. Accumulation of dysfunctional SOD1 protein in Parkinson’s disease is not associated with mutations in the SOD1 gene
33. Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis
34. A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36
35. Convenient and efficient syntheses of 4-hydroxy-2(E)-nonenal and 4-oxo-2(E)-nonenal
36. Reciprocal DNA topoisomerase II cleavage events at 5′-TATTA-3′ sequences in MLL and AF-9 create homologous single-stranded overhangs that anneal to form der(11) and der(9) genomic breakpoint junctions in treatment-related AML without further processing
37. Detection of extracellular proteinase of Pseudomonas fragi by enzyme-linked immunosorbent assay
38. Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis
39. Synthesis of trideuteratedO-alkyl platelet activating factor and lyso derivatives
40. Stable isotope dilution gas chromatography/mass spectrometry of prostaglandins and leukotrienes
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