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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. 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.
Cytoplasmic dynein in neurodegeneration.
Eschbach J, Dupuis L. Eschbach J, et al. Pharmacol Ther. 2011 Jun;130(3):348-63. doi: 10.1016/j.pharmthera.2011.03.004. Epub 2011 Mar 21. Pharmacol Ther. 2011. PMID: 21420428 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. 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.
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: eschbach j. 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.
Mutual exacerbation of peroxisome proliferator-activated receptor γ coactivator 1α deregulation and α-synuclein oligomerization.
Eschbach J, von Einem B, Müller K, Bayer H, Scheffold A, Morrison BE, Rudolph KL, Thal DR, Witting A, Weydt P, Otto M, Fauler M, Liss B, McLean PJ, Spada AR, Ludolph AC, Weishaupt JH, Danzer KM. Eschbach J, et al. Ann Neurol. 2015 Jan;77(1):15-32. doi: 10.1002/ana.24294. Epub 2014 Dec 19. Ann Neurol. 2015. PMID: 25363075 Free PMC article.
151 results