Genetic dissection of the mitochondrial lipoylation pathway in yeast

Autor: Laura P. Pietikäinen, M. Tanvir Rahman, J. Kalervo Hiltunen, Carol L. Dieckmann, Alexander J. Kastaniotis

Publikováno v: BMC Biology, Vol 19, Iss 1, Pp 1-15 (2021)

Abstract Background Lipoylation of 2-ketoacid dehydrogenases is essential for mitochondrial function in eukaryotes. While the basic principles of the lipoylation processes have been worked out, we still lack a thorough understanding of the details of

Externí odkaz: https://doaj.org/article/f012e0c5783342f1922b0a5e5a5651a5

On the molecular basis of D-bifunctional protein deficiency type III.

Autor: Maija L Mehtälä, Marc F Lensink, Laura P Pietikäinen, J Kalervo Hiltunen, Tuomo Glumoff

Publikováno v: PLoS ONE, Vol 8, Iss 1, p e53688 (2013)

Molecular basis of D-bifunctional protein (D-BP) deficiency was studied with wild type and five disease-causing variants of 3R-hydroxyacyl-CoA dehydrogenase fragment of the human MFE-2 (multifunctional enzyme type 2) protein. Complementation analysis

Externí odkaz: https://doaj.org/article/a4b1ec5485804990a6b27f3921a68a2f

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Autor: Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A. Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben-Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Marcus Annable, Elizabeth Marchani Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen P. Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie A. Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel J. McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Santos-Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Qian Yi

Publikováno v: The American Journal of Human Genetics. 99:1229-1244

Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defectiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f5df4ba7c05bbdf056967b31831bace
https://doi.org/10.1016/j.ajhg.2016.09.021

On the molecular basis of D-bifunctional protein deficiency type III

Autor: J. Kalervo Hiltunen, Marc F. Lensink, Laura P. Pietikäinen, Tuomo Glumoff, Maija L. Mehtälä

Publikováno v: PLoS ONE, Vol 8, Iss 1, p e53688 (2013)
PLoS ONE
PLoS ONE, 2013, 8, pp.e53688. ⟨10.1371/journal.pone.0053688⟩
PLoS ONE, Public Library of Science, 2013, 8, pp.e53688. ⟨10.1371/journal.pone.0053688⟩

Molecular basis of D-bifunctional protein (D-BP) deficiency was studied with wild type and five disease-causing variants of 3R-hydroxyacyl-CoA dehydrogenase fragment of the human MFE-2 (multifunctional enzyme type 2) protein. Complementation analysis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b077465f3ad10356ec54a34bf54f79
http://europepmc.org/articles/PMC3538638?pdf=render