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Mutations in cytoplasmic dynein lead to a Huntington's disease-like defect in energy metabolism of brown and white adipose tissues.
Eschbach J, Fergani A, Oudart H, Robin JP, Rene F, Gonzalez de Aguilar JL, Larmet Y, Zoll J, Hafezparast M, Schwalenstocker B, Loeffler JP, Ludolph AC, Dupuis L. Eschbach J, et al. Among authors: ludolph ac. Biochim Biophys Acta. 2011 Jan;1812(1):59-69. doi: 10.1016/j.bbadis.2010.09.009. Epub 2010 Sep 29. Biochim Biophys Acta. 2011. PMID: 20887786 Free article.
A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons.
Braunstein KE, Eschbach J, Ròna-Vörös K, Soylu R, Mikrouli E, Larmet Y, René F, Gonzalez De Aguilar JL, Loeffler JP, Müller HP, Bucher S, Kaulisch T, Niessen HG, Tillmanns J, Fischer K, Schwalenstöcker B, Kassubek J, Pichler B, Stiller D, Petersen A, Ludolph AC, Dupuis L. Braunstein KE, et al. Among authors: ludolph ac. Hum Mol Genet. 2010 Nov 15;19(22):4385-98. doi: 10.1093/hmg/ddq361. Epub 2010 Aug 31. Hum Mol Genet. 2010. PMID: 20807776 Free PMC article.
Energy metabolism in amyotrophic lateral sclerosis.
Dupuis L, Pradat PF, Ludolph AC, Loeffler JP. Dupuis L, et al. Among authors: ludolph ac. Lancet Neurol. 2011 Jan;10(1):75-82. doi: 10.1016/S1474-4422(10)70224-6. Epub 2010 Oct 27. Lancet Neurol. 2011. PMID: 21035400 Review.
Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age.
Eschbach J, Sinniger J, Bouitbir J, Fergani A, Schlagowski AI, Zoll J, Geny B, René F, Larmet Y, Marion V, Baloh RH, Harms MB, Shy ME, Messadeq N, Weydt P, Loeffler JP, Ludolph AC, Dupuis L. Eschbach J, et al. Among authors: ludolph ac. Neurobiol Dis. 2013 Oct;58:220-30. doi: 10.1016/j.nbd.2013.05.015. Epub 2013 Jun 4. Neurobiol Dis. 2013. PMID: 23742762 Free PMC article.
810 results