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Articles, 2 records found
Research literature, 1 records found
Articles 2 records found  
21 p, 4.8 MB A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss / Servián Morilla, Emilia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)) ; Takeuchi, Hideyuki (The University of Georgia) ; Lee, Tom V. (Baylor College of Medicine) ; Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Mavillard, Fabiola (Universidad de Sevilla) ; Area Gómez, Estela (Columbia University Medical Center) ; Rivas, Eloy (Universidad de Sevilla) ; Nieto González, José L. (Universidad de Sevilla) ; Rivero, María C. (Universidad de Sevilla) ; Cabrera Serrano, Macarena (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)) ; Gómez Sánchez, Leonardo (Universidad de Sevilla) ; Martínez López, José A. (Universidad de Sevilla) ; Estrada, Beatriz (Universidad Pablo Olavide) ; Márquez, Celedonio (Universidad de Sevilla) ; Morgado, Yolanda (Hospital U. Valme) ; Suárez Calvet, Xavier (Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER)) ; Pita, Guillermo (Centro Nacional de Investigaciones Oncológicas) ; Bigot, Anne (Sorbonne Universités) ; Gallardo Vigo, Eduard (Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER)) ; Fernández Chacón, Rafael (Universidad de Sevilla) ; Hirano, Michio (Columbia University Medical Center) ; Haltiwanger, Robert S. (The University of Georgia) ; Jafar-Nejad, Hamed (Baylor College of Medicine) ; Paradas, Carmen (Columbia University Medical Center) ; Universitat Autònoma de Barcelona
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb-girdle muscular dystrophy, we identified a missense mutation in 1 (protein O -glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. [...]
2016 - 10.15252/emmm.201505815
EMBO Molecular Medicine, Vol. 8, Issue 11 (November 2016) , p. 1289-1309  
23 p, 4.0 MB MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria / Dalla Rosa, Ilaria (MRC Mill Hill Laboratory, London, United Kingdom) ; Cámara, Yolanda (Vall d'Hebron Institut de Recerca. Laboratori de Trastorns Mitocondrials) ; Durigon, Romina (MRC Mill Hill Laboratory) ; Moss, Chloe F. (MRC Mill Hill Laboratory) ; Vidoni, Sara (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Akman, Gokhan (MRC Mill Hill Laboratory) ; Hunt, Lilian (MRC Mill Hill Laboratory) ; Johnson, Mark A. (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Grocott, Sarah (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital, Oxford, United Kingdom) ; Wang, Liya (Department of Anatomy, Physiology and Biochemistry, The Swedish University of Agricultural Sciences, Biomedical Center) ; Thorburn, David R. (Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital) ; Hirano, Michio (Department of Neurology, Columbia University Medical Center, New York, New York, United States of America) ; Poulton, Joanna (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital) ; Taylor, Robert W. (Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, The Medical School, Newcastle upon Tyne) ; Elgar, Greg (MRC Mill Hill Laboratory) ; Martí Seves, Ramon (Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III) ; Voshol, Peter (Institute of Metabolic Science, University of Cambridge) ; Holt, Ian J. (MRC Mill Hill Laboratory, London) ; Spinazzola, Antonella (MRC Mill Hill Laboratory) ; Universitat Autònoma de Barcelona
MPV17 is a mitochondrial inner membrane protein whose dysfunction causes mitochondrial DNA abnormalities and disease by an unknown mechanism. Perturbations of deoxynucleoside triphosphate (dNTP) pools are a recognized cause of mitochondrial genomic instability; therefore, we determined DNA copy number and dNTP levels in mitochondria of two models of MPV17 deficiency. [...]
2016 - 10.1371/journal.pgen.1005779
PLoS Genetics, Vol. 12 (january 2016)  

Research literature 1 records found  
18 p, 335.9 KB Anàlisi genètico-molecular d'una nova forma de distròfia muscular de maluc autosòmica dominant en un extens pedigrí / Palenzuela Díaz, Lluís ; Andreu Périz, Antoni Lluís, dir. (Hospitals Vall d'Hebron (Barcelona, Catalunya). Centre d'Investigacions en Bioquímica i Biologia Molecular) ; Hirano, Michio, dir.
S'ha abordat l'estudi genètico-molecular d'una extensa família espanyola afectada per una nova forma de distròfia muscular de maluc (Limb-girdle muscle dystrophy, LGMD) amb herència autosòmica dominant. [...]
It has been performed the genetic and molecular analysis of a large Spanish family affected by a new limb-girdle muscle dystrophy form (LGMD) with an autosomal dominant inheritance trait. Once described the clinical features of the disease we compared them with the 5 other autosomal dominant LGMD previously described. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2002
11 documents

See also: similar author names
1 Hirano, M.
1 Hirano, Michio,
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