245 results on '"Bross, Peter"'
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2. The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulation
3. An inventory of interactors of the human HSP60/HSP10 chaperonin in the mitochondrial matrix space
4. Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.
5. Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria
6. APD-Containing Cyclolipodepsipeptides Target Mitochondrial Function in Hypoxic Cancer Cells
7. Advancing Clinical Trial Design for Non-Muscle Invasive Bladder Cancer
8. LEFT MAIN CORONARY ARTERY COMPRESSION BY AORTIC ABSCESS DIAGNOSED BY INTRAVASCULAR ULTRASOUND
9. Mitochondrial Hsp70 and the troubles of nomenclature: leaving behind tradition to gain intuitiveness and clarity
10. Enhanced genome editing in mammalian cells with a modified dual-fluorescent surrogate system
11. Effects of a mutation in the HSPE1 gene encoding the mitochondrial co-chaperonin HSP10 and its potential association with a neurological and developmental disorder
12. Do lamin A and lamin C have unique roles?
13. A cell model to study different degrees of Hsp60 deficiency in HEK293 cells
14. Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice
15. Human skeletal muscle CD90+ fibro-adipogenic progenitors are associated with muscle degeneration in type 2 diabetic patients
16. Introduction
17. Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders
18. Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease
19. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level
20. Leptin regulation of Hsp60 impacts hypothalamic insulin signaling
21. Mitochondrial Hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy
22. Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential
23. Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter
24. Measuring Therapeutic Response in Chronic Graft-versus-Host Disease: National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: IV. Response Criteria Working Group Report
25. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. (Report)
26. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency
27. A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy
28. Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism
29. Clear correlation of genotype with disease phenotype in very-long-chain Acyl-CoA dehydrogenase deficiency
30. The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope
31. Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation
32. The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive
33. Genetic defects in fatty acid β-oxidation and acyl-CoA dehydrogenases: Molecular pathogenesis and genotype–phenotype relationships
34. Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli
35. [small alpha, Greek]-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
36. The clinical outcome of LMNA missense mutations appears to be associated with the amount of mutated protein in the nuclear envelope
37. Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress
38. Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder
39. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency(*)
40. Isolated 2-Methylbutyryiglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism
41. Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex
42. CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria
43. Do lamin A and lamin C have unique roles?
44. A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress
45. Ethylmalonic Encephalopathy ETHE1 R163W/R163Q Mutations Alter Protein Stability and Redox Properties of the Iron Centre
46. Selected reaction monitoring as an effective method for reliable quantification of disease‐associated proteins in maple syrup urine disease
47. Medium chain Acyl-CoA dehydrogenase genetic defects : identification and partial characterisation of two new patient mutants
48. Regulation of immunotherapeutic products for cancer and FDA’s role in product development and clinical evaluation
49. Identification of Elements That Dictate the Specificity of Mitochondrial Hsp60 for Its Co-Chaperonin
50. Abstract 9140: The Majority of Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy are Associated with Haploinsufficiency in the Myocardium and Epidermis
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