Zobrazeno 1 - 10
of 4 003
pro vyhledávání: '"Alkaptonuria"'
HGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model.
Autor:
Mastroeni P; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Trezza A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Geminiani M; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Frusciante L; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Visibelli A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy., Santucci A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy.; MetabERN, Department of Biotechnology, Chemistry and Pharmacy, University of Siena Via Aldo Moro, 53100 Siena, Italy.
Publikováno v:
Cells [Cells] 2024 Sep 07; Vol. 13 (17). Date of Electronic Publication: 2024 Sep 07.
Autor:
Spears KR; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Rossignol F; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Perry MB; Rehabilitation Medicine Department, NIH Clinical Center, United States., Kayser MA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Suwannarat P; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., O'Brien KE; Office of the Clinical Director, NHGRI, United States., Bryant JC; Office of the Clinical Director, NHGRI, United States., Greenwood WF; Cycle Pharmaceuticals Limited, United Kingdom., Fuller S; Cycle Pharmaceuticals Limited, United Kingdom., Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States. Electronic address: wintrone@mail.nih.gov.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108562. Date of Electronic Publication: 2024 Aug 03.
Autor:
Ranganath LR; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK.; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool L7 8TX, UK., Khedr M; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Milan AM; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Davison AS; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Hughes AT; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Norman BP; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool L7 8TX, UK., Bygott H; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Luangrath E; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Judd S; Department of Nutrition & Dietetics, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Soulsby C; Department of Nutrition & Dietetics, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8YE, UK., Olsson B; Garriguella AB, 179 62 Ekerö, Sweden., Imrich R; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, 84104 Bratislava, Slovakia.; Faculty of Medicine of Comenius University, 81372 Bratislava, Slovakia.
Publikováno v:
Nutrients [Nutrients] 2024 Aug 15; Vol. 16 (16). Date of Electronic Publication: 2024 Aug 15.
Sclerouveitis as Part of Multiple Autoimmune Syndrome in a Patient with Alkaptonuria: A Case Report.
Autor:
Cifuentes-González C; Neuroscience (NEUROS) Research Group, NeuroVitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia., Rojas-Carabali W; Neuroscience (NEUROS) Research Group, NeuroVitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia., Sierra-Cote MC; Neuroscience (NEUROS) Research Group, NeuroVitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia., de-la-Torre A; Neuroscience (NEUROS) Research Group, NeuroVitae Center for Neuroscience, Institute of Translational Medicine (IMT), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.
Publikováno v:
Ocular immunology and inflammation [Ocul Immunol Inflamm] 2024 Jul; Vol. 32 (5), pp. 758-762. Date of Electronic Publication: 2023 Feb 23.
Autor:
Norman BP; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Sutherland H; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; School of Sport & Exercise Sciences, Liverpool John Moores University, Liverpool, UK., Wilson PJM; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Rutland DA; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Milan AM; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK., Hughes AT; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK., Davison AS; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK., Khedr M; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK., Jarvis JC; School of Sport & Exercise Sciences, Liverpool John Moores University, Liverpool, UK., Gallagher JA; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Bou-Gharios G; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Ranganath LR; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 664-673. Date of Electronic Publication: 2024 Mar 15.
Autor:
Broekx S; Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium. Electronic address: senne.broekx@gmail.com., Peuskens D; Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium.
Publikováno v:
Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2024 Jul; Vol. 242, pp. 108349. Date of Electronic Publication: 2024 May 22.
Autor:
Milella MS; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Geminiani M; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; SienabioACTIVE-SbA, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Trezza A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Visibelli A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Braconi D; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy., Santucci A; ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; SienabioACTIVE-SbA, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; ARTES 4.0, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.
Publikováno v:
Cells [Cells] 2024 Jun 20; Vol. 13 (12). Date of Electronic Publication: 2024 Jun 20.
Autor:
Bhatti IA; Shifa International Hospital, Islamabad, Pakistan., Saqib M; Shifa International Hospital, Islamabad, Pakistan., Rehman IU; Shifa International Hospital, Islamabad, Pakistan., Amjed S; Shifa International Hospital, Islamabad, Pakistan., Hashim HT; University of Warith Al-Anbiyaa, College of Medicine, Karbala, Iraq sondur.suhas@gmail.com hashim.h.t.h@gmail.com., Butt AA; Shifa International Hospital, Islamabad, Pakistan.
Publikováno v:
Clinical medicine & research [Clin Med Res] 2024 Jun; Vol. 22 (2), pp. 107-111.
Autor:
Bernardini G; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy. giulia.bernardini@unisi.it., Braconi D; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Zatkova A; Institute of Clinical and Translational Research, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia.; Geneton Ltd, Bratislava, Slovakia., Sireau N; AKU Society, Cambridge, UK., Kujawa MJ; 2nd Department of Radiology, Medical University of Gdansk, Gdansk, Poland., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Spiga O; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Geminiani M; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Gallagher JA; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences University of Liverpool, Liverpool, UK., Ranganath LR; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK., Santucci A; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.
Publikováno v:
Nature reviews. Disease primers [Nat Rev Dis Primers] 2024 Mar 07; Vol. 10 (1), pp. 16. Date of Electronic Publication: 2024 Mar 07.
Autor:
Tokuhara Y; Department of Medical Technology, Kagawa Prefectural University of Health Sciences, Takamatsu, Kagawa, Japan., Ohara K; Faculty of Pharmaceutical Sciences at Kagawa Campus, Tokushima Bunri University, Sanuki, Kagawa, Japan., Morinishi T; Department of Medical Technology, Kagawa Prefectural University of Health Sciences, Takamatsu, Kagawa, Japan., Yamaguchi K; Faculty of Pharmaceutical Sciences at Kagawa Campus, Tokushima Bunri University, Sanuki, Kagawa, Japan., Tada S; Department of Medical Technology, Kagawa Prefectural University of Health Sciences, Takamatsu, Kagawa, Japan.
Publikováno v:
Journal of clinical laboratory analysis [J Clin Lab Anal] 2023 Nov; Vol. 37 (21-22), pp. e24976. Date of Electronic Publication: 2023 Oct 25.