1 resultado para chromosome 17
em Repositório do Centro Hospitalar de Lisboa Central, EPE - Centro Hospitalar de Lisboa Central, EPE, Portugal
Filtro por publicador
- Aberystwyth University Repository - Reino Unido (1)
- Adam Mickiewicz University Repository (1)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (1)
- Aquatic Commons (63)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (2)
- Aston University Research Archive (2)
- Biblioteca Digital da Câmara dos Deputados (9)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (6)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (1)
- Biblioteca Digital de Artesanías de Colombia (1)
- Biblioteca Digital de la Universidad Católica Argentina (4)
- Biblioteca Digital de Teses e Dissertações Eletrônicas da UERJ (4)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (8)
- Boston University Digital Common (1)
- Brock University, Canada (28)
- CaltechTHESIS (3)
- Cámara de Comercio de Bogotá, Colombia (92)
- Cambridge University Engineering Department Publications Database (5)
- Center for Jewish History Digital Collections (5)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (155)
- CORA - Cork Open Research Archive - University College Cork - Ireland (2)
- DI-fusion - The institutional repository of Université Libre de Bruxelles (6)
- DigitalCommons@The Texas Medical Center (7)
- Doria (National Library of Finland DSpace Services) - National Library of Finland, Finland (1)
- DRUM (Digital Repository at the University of Maryland) (1)
- Duke University (10)
- eResearch Archive - Queensland Department of Agriculture; Fisheries and Forestry (7)
- FAUBA DIGITAL: Repositorio institucional científico y académico de la Facultad de Agronomia de la Universidad de Buenos Aires (1)
- Funes: Repositorio digital de documentos en Educación Matemática - Colombia (1)
- Gallica, Bibliotheque Numerique - Bibliothèque nationale de France (French National Library) (BnF), France (163)
- Greenwich Academic Literature Archive - UK (2)
- Helda - Digital Repository of University of Helsinki (17)
- Indian Institute of Science - Bangalore - Índia (43)
- Infoteca EMBRAPA (1)
- Instituto Nacional de Saúde de Portugal (1)
- Instituto Politécnico do Porto, Portugal (5)
- National Center for Biotechnology Information - NCBI (20)
- Plymouth Marine Science Electronic Archive (PlyMSEA) (11)
- Portal de Revistas Científicas Complutenses - Espanha (1)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (116)
- Queensland University of Technology - ePrints Archive (88)
- Repositório Científico da Universidade de Évora - Portugal (2)
- REPOSITORIO DIGITAL IMARPE - INSTITUTO DEL MAR DEL PERÚ, Peru (3)
- Repositório do Centro Hospitalar de Lisboa Central, EPE - Centro Hospitalar de Lisboa Central, EPE, Portugal (1)
- Repositório Institucional da Universidade de Aveiro - Portugal (1)
- Repositório Institucional da Universidade Estadual de São Paulo - UNESP (1)
- Repositorio Institucional de la Universidad Nacional Agraria (3)
- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (38)
- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (4)
- SAPIENTIA - Universidade do Algarve - Portugal (2)
- Savoirs UdeS : plateforme de diffusion de la production intellectuelle de l’Université de Sherbrooke - Canada (1)
- South Carolina State Documents Depository (2)
- Universidad Autónoma de Nuevo León, Mexico (8)
- Universidad Politécnica Salesiana Ecuador (1)
- Universidade Federal do Pará (1)
- Université de Lausanne, Switzerland (12)
- Université de Montréal (1)
- Université de Montréal, Canada (4)
- University of Queensland eSpace - Australia (5)
- University of Washington (5)
- WestminsterResearch - UK (1)
Resumo:
17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospinal fluid, together with low expression of brain-derived neurotrophic factor, α-synuclein, and serotonin metabolites. Confirmation of these findings in other patients would help elucidating mechanisms of synaptic dysfunction in this disease, and highlight the role of Aβ in both early and late periods of life.