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NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

Autor: Baertling, F., Sanchez-Caballero, L., van den Brand, M. A. M., Fung, C. -W., Chan, S. H. -S., Wong, V. C. -N., Hellebrekers, D. M. E., de Coo, I. F. M., Smeitink, J. A. M., Rodenburg, R. J. T., Nijtmans, L. G. J.

Publikováno v: Clinical Genetics, 93, 111-118
Clinical Genetics, 93, 1, pp. 111-118
Clinical Genetics, 93(1), 111-118. Wiley

Mitochondrial respiratory chain complex I consists of 44 different subunits and contains 3 functional modules: the Q-, the N- and the P-module. NDUFA9 is a Q-module subunit required for complex I assembly or stability. However, its role in complex I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::79b6d4692fcb1c35ccf2b78e60c18aa4
http://hdl.handle.net/2066/190456

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder

Autor: Nguyen, M., Boesten, I., Hellebrekers, D. M. E. I., Mulder-den Hartog, N. M., de Coo, I. F. M., Smeets, H. J. M., Gerards, M.

Publikováno v: Clinical Genetics, 91(1), 121-125. Wiley

The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis. Here, we describe a Mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::a1feb253fde114697fc0bbbcbced541e
https://cris.maastrichtuniversity.nl/en/publications/5e0605f3-894f-4ad4-bebf-962ce1980e7c

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Autor: Halter, J. P, Michael, W, Schüpbach, M, Mandel, H, Casali, C, Orchard, K, Collin, M, Valcarcel, D, Rovelli, A, Filosto, M, Dotti, M. T, Marotta, G, Pintos, G, Barba, P, Accarino, A, Ferra, C, Illa, I, Beguin, Y, Bakker, J. A, Boelens, J. J, De Coo, I. F. M, Fay, K, Sue, C. M, Nachbaur, D, Zoller, H, Sobreira, C, Pinto Simoes, B, Hammans, S. R, Savage, D, Martí, R, Chinnery, P. F, Elhasid, R, Gratwohl, A, Hirano, M, Barros Navarro, G, Benoist, J. F, Bierau, J, Bucalossi, A, Carluccio, M. A, Coll-Canti, J, Cotelli, M. S, Diesch, T, Di Fabio, R, Donati, M. A, Garvin, J. H, Hill, K, Kappeler, L, Ku Hne, T, Lara, M. C, Lenoci, M, Lucchini, G, Marques, W. Jr, Mattle, H. P, Meyer, A, Parini, R, Passweg, J. R, Pieroni, F, Rodriguez-Palmero, A, Santus, F, Scarpelli, M, Schlesser, P, Sicurelli, F, Stern, M, Stracieri, A. B, Tonin, P, Torres-Torronteras, J, Voltarelli, J. C, Zaidman, I.

Publikováno v: Brain, 138, 2847. Oxford University Press
Halter, Joerg P; Schüpbach, Michael; Mandel, Hanna; Casali, Carlo; Orchard, Kim; Collin, Matthew; Valcarcel, David; Rovelli, Attilio; Filosto, Massimiliano; Dotti, Maria T; Marotta, Giuseppe; Pintos, Guillem; Barba, Pere; Accarino, Anna; Ferra, Christelle; Illa, Isabel; Beguin, Yves; Bakker, Jaap A; Boelens, Jaap J; de Coo, Irenaeus F M; ... (2015). Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain, 138(10), pp. 2847-2858. Oxford University Press 10.1093/brain/awv226
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Brain, 138, 2847-2858. Oxford University Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 138, 2847-2858

Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622b286198db315b48ed87569b5cafb2
https://dspace.library.uu.nl/handle/1874/332591