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ALS-causing mutations differentially affect PGC-1α expression and function in the brain vs. peripheral tissues.
Bayer H, Lang K, Buck E, Higelin J, Barteczko L, Pasquarelli N, Sprissler J, Lucas T, Holzmann K, Demestre M, Lindenberg KS, Danzer KM, Boeckers T, Ludolph AC, Dupuis L, Weydt P, Witting A. Bayer H, et al. Among authors: dupuis l. Neurobiol Dis. 2017 Jan;97(Pt A):36-45. doi: 10.1016/j.nbd.2016.11.001. Epub 2016 Nov 3. Neurobiol Dis. 2017. PMID: 27818323
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: dupuis l. 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.
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: dupuis l. 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.
Energy metabolism in amyotrophic lateral sclerosis.
Dupuis L, Pradat PF, Ludolph AC, Loeffler JP. Dupuis L, et al. 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.
482 results