The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.

Autor: Cho S, Servián-Morilla E, Garrido VN, Rodriguez-Gonzalez B, Yuan Y, Cano R, Rambhiya AA, Darabi R, Haltiwanger RS, Paradas C, Jafar-Nejad H

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Nov 25. Date of Electronic Publication: 2024 Nov 25.

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.

Autor: Dofash LNH; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; School of Pharmacy and Biomedical Sciences, Faculty of Health Sciences, Curtin Health Innovation Research Institute, Curtin University, Bentley, WA 6102, Australia., Monahan GV; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Servián-Morilla E; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/Consejo Superior de Investigaciones Científicas/Universidad de Sevilla, Sevilla 41013, Spain., Rivas E; Department of Pathology, Hospital Universitario Virgen del Rocío Sevilla, Sevilla 41013, Spain., Faiz F; Diagnostic Genomics, PathWest, Nedlands, WA 6009, Australia., Sullivan P; Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW 2052, Australia., Oates E; School of Biotechnology & Biomolecular Sciences, The University of New South Wales, Sydney, NSW 2033, Australia., Clayton J; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Taylor RL; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Davis MR; Diagnostic Genomics, PathWest, Nedlands, WA 6009, Australia., Beilharz T; Development and Stem Cells Program, Department of Biochemistry & Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton 3800 Victoria, Australia., Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Cabrera-Serrano M; Department of Neurology, Neuromuscular Unit and Instituto de Biomedicina de Sevilla/CSIC, Hospital Universitario Virgen del Rocío, Sevilla 41013, Spain., Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; School of Biomedical Sciences, University of Western Australia, Nedlands, WA 6009, Australia.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Mar 20; Vol. 32 (7), pp. 1127-1136.

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P.01 A KLHL40 3′UTR splice-altering variant causes milder NEM8

Autor: Dofash, L., Monahan, G., Servián-Morilla, E., Rivas, E., Faiz, F., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Beilharz, T., Laing, N., Cabrera-Serrano, M., Ravenscroft, G.

Publikováno v: In Neuromuscular Disorders October 2022 32 Supplement 1:S45-S45

Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families.

Autor: González‐Mera, L., Ravenscroft, G., Cabrera‐Serrano, M., Ermolova, N., Domínguez‐González, C., Arteche‐López, A., Soltanzadeh, P., Evesson, F., Navas, C., Mavillard, F., Clayton, J., Rodrigo, P., Servián‐Morilla, E., Cooper, S. T, Waddell, L., Reardon, K., Corbett, A., Hernandez‐Laín, A., Sanchez, A., Esteban Perez, J.

Publikováno v: Neuropathology & Applied Neurobiology; Feb2021, Vol. 47 Issue 2, p283-296, 14p