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Items: 1 to 20 of 27

1.
Whole-transcriptome profiling across different developmental stages of Aedes albopictus (Diptera: Culicidae) provides insights into chitin-related non-coding RNA and competing endogenous RNA networks
Wenjuan Liu, Sha An, Peng Cheng, Kexin Zhang, Maoqing Gong, Zhong Zhang, Ruiling Zhang
Parasit Vectors. 2023; 16: 33. Published online 2023 Jan 26. doi: 10.1186/s13071-022-05648-2
PMCID:
PMC9878986
ArticlePubReaderPDF–1.5MCite
2.
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech, Prof. Robert Jech, Sylvia Boesch, Matej Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Prof. Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Prof. Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Prof. Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela V. Bonfert, Edda Haberlandt, Prof. Barbara Plecko, Birgit Leineweber, Prof. Steffen Berweck, Thomas Herberhold, Prof. Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Prof. Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenkovic, Prof. Franco Laccone, Veronika Pilshofer, Prof. Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, Prof. Monica Troncoso, Prof. Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Prof. Martin Hecht, Matthias Baumann, Prof. Marc Wolf, Aida Telegrafi, Richard E. Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Prof. Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Prof. Thomas Sycha, Prof. Fritz Zimprich, Verena Kraus, Christine Makowski, Prof. Pedro Gonzalez-Alegre, Tanya M. Bardakjian, Prof. Laurie J. Ozelius, Annalisa Vetro, Prof. Renzo Guerrini, Prof. Esther Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Prof. Robert Steinfeld, Birgit Assmann, Christian Staufner, Prof. Thomas Opladen, Prof. Evžen Růžička, Prof. Ronald D. Cohn, Prof. David Dyment, Prof. Wendy K. Chung, Hartmut Engels, Prof. Andres Ceballos-Baumann, Prof. Rafal Ploski, Prof. Oliver Daumke, Prof. Bernhard Haslinger, Prof. Volker Mall, Prof. Konrad Oexle, Prof. Juliane Winkelmann
Lancet Neurol. Author manuscript; available in PMC 2021 Nov 1.
Published in final edited form as: Lancet Neurol. 2020 Nov; 19(11): 908–918. doi: 10.1016/S1474-4422(20)30312-4
PMCID:
PMC8246240
ArticlePubReaderPDF–1.4MCite
3.
Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
Farzad Fatehi, Ali Asghar Okhovat, Yalda Nilipour, Magdalena Mroczek, Volker Straub, Ana Töpf, Aleksa Palibrk, Stojan Peric, Vidosava Rakocevic Stojanovic, Hossein Najmabadi, Shahriar Nafissi
Eur J Neurol. Author manuscript; available in PMC 2021 Nov 1.
Published in final edited form as: Eur J Neurol. 2020 Nov; 27(11): 2257–2266. Published online 2020 Jul 24. doi: 10.1111/ene.14402
PMCID:
PMC8006598
ArticlePubReaderPDF–1.2MCite
4.
A refined proposal for the origin of dogs: the case study of Gnirshöhle, a Magdalenian cave site
Chris Baumann, Saskia Pfrengle, Susanne C. Münzel, Martyna Molak, Tatiana R. Feuerborn, Abagail Breidenstein, Ella Reiter, Gerd Albrecht, Claus-Joachim Kind, Christian Verjux, Charlotte Leduc, Nicholas J. Conard, Dorothée G. Drucker, Liane Giemsch, Olaf Thalmann, Hervé Bocherens, Verena J. Schuenemann
Sci Rep. 2021; 11: 5137. Published online 2021 Mar 4. doi: 10.1038/s41598-021-83719-7
PMCID:
PMC7933181
ArticlePubReaderPDF–4.4MCite
5.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, Elena Schiff, Rola Ba-Abbad, Samantha Malka, Ainoa Gimenez, Michalis Georgiou, Genevieve Wright, Monica Armengol, Hannah Knight, Menachem Katz, Mariya Moosajee, Patrick Yu-Wai-Man, Anthony T. Moore, Michel Michaelides, Andrew R. Webster, Omar A. Mahroo
Ophthalmology. 2020 Oct; 127(10): 1384–1394. doi: 10.1016/j.ophtha.2020.04.008
PMCID:
PMC7520514
ArticlePubReaderPDF–1.8MCite
6.
Mitochondrial ubiquinol oxidation is necessary for tumor growth
Inmaculada Martínez-Reyes, Luzivette Robles Cardona, Hyewon Kong, Karthik Vasan, Gregory S. McElroy, Marie Werner, Hermon Kihshen, Colleen R. Reczek, Samuel E. Weinberg, Peng Gao, Elizabeth M. Steinert, Raul Piseaux, G.R. Scott Budinger, Navdeep S. Chandel
Nature. Author manuscript; available in PMC 2021 Jan 8.
Published in final edited form as: Nature. 2020 Sep; 585(7824): 288–292. Published online 2020 Jul 8. doi: 10.1038/s41586-020-2475-6
PMCID:
PMC7486261
ArticlePubReaderPDF–3.7MCite
7.
Two Human Cases of Echinococcus ortleppi Infection in the Lung and Heart in Vietnam
Nguyen Van De, Pham Ngoc Minh, Le Van Duyet, Nguyen Ngoc Bich, Trinh Nam Son, Bong-Kwang Jung, Jong-Yil Chai
Korean J Parasitol. 2020 Aug; 58(4): 451–456. Published online 2020 Aug 25. doi: 10.3347/kjp.2020.58.4.451
PMCID:
PMC7462803
ArticlePubReaderPDF–643KCite
8.
A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations
Xueli Chang, Yaxin Wu, Jie Zhou, Huaxing Meng, Wei Zhang, Junhong Guo
Medicine (Baltimore) 2020 Jan; 99(5): e18634. Published online 2020 Jan 31. doi: 10.1097/MD.0000000000018634
PMCID:
PMC7004636
ArticlePubReaderPDF–213KCite
9.
A conditional mouse model of complex II deficiency manifesting as Leigh-like syndrome
Fatimah Al Khazal, Molly Nelson Holte, Brad Bolon, Thomas A. White, Nathan LeBrasseur, L. James Maher, III
FASEB J. 2019 Dec; 33(12): 13189–13201. Published online 2019 Aug 30. doi: 10.1096/fj.201802655RR
PMCID:
PMC6894089
ArticlePubReaderCite
10.
Reduced mitochondrial lipid oxidation leads to fat accumulation in myosteatosis
Jonathan P. Gumucio, Austin H. Qasawa, Patrick J. Ferrara, Afshan N. Malik, Katsuhiko Funai, Brian McDonagh, Christopher L. Mendias
FASEB J. 2019 Jul; 33(7): 7863–7881. Published online 2019 Apr 2. doi: 10.1096/fj.201802457RR
PMCID:
PMC6593892
ArticlePubReaderCite
11.
Mutation-specific effects in germline transmission of pathogenic mtDNA variants
Auke BC Otten, Suzanne CEH Sallevelt, Phillippa J. Carling, Joseph C.F.M. Dreesen, Marion Drüsedau, Sabine Spierts, Aimee D.C. Paulussen, Christine E.M. de Die-Smulders, Mary Herbert, Patrick F. Chinnery, David C. Samuels, Patrick Lindsey, Hubert JM Smeets
Hum Reprod. Author manuscript; available in PMC 2019 Jun 5.
Published in final edited form as: Hum Reprod. 2018 Jul 1; 33(7): 1331–1341. doi: 10.1093/humrep/dey114
PMCID:
PMC6551225
ArticlePubReaderPDF–545KCite
12.
Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4
Sara Violante, Nihad Achetib, Carlo W. T. van Roermund, Jacob Hagen, Tetyana Dodatko, Frédéric M. Vaz, Hans R. Waterham, Hongjie Chen, Myriam Baes, Chunli Yu, Carmen A. Argmann, Sander M. Houten
FASEB J. 2019 Mar; 33(3): 4355–4364. Published online 2018 Dec 12. doi: 10.1096/fj.201801498R
PMCID:
PMC6404569
ArticlePubReaderCite
13.
Phylogenetic analysis of Spirocerca lupi and Spirocerca vulpis reveal high genetic diversity and intra-individual variation
Alicia Rojas, Eran Dvir, Róbert Farkas, Kalyan Sarma, Sonjoy Borthakur, Abdul Jabbar, Alex Markovics, Domenico Otranto, Gad Baneth
Parasit Vectors. 2018; 11: 639. Published online 2018 Dec 14. doi: 10.1186/s13071-018-3202-0
PMCID:
PMC6295112
ArticlePubReaderPDF–1.5MCite
14.
Mitochondrial dysfunction and increased glycolysis in prodromal and early Parkinson's blood cells
Amy M. Smith, Constanze Depp, Brent J. Ryan, Geoffrey I. Johnston, Javier Alegre‐Abarrategui, Samuel Evetts, Michal Rolinski, Fahd Baig, Claudio Ruffmann, Anna Katharina Simon, Michele T. M. Hu, Richard Wade‐Martins
Mov Disord. 2018 Oct; 33(10): 1580–1590. Published online 2018 Oct 7. doi: 10.1002/mds.104
PMCID:
PMC6221131
ArticlePubReaderPDF–815KCite
15.
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Erika Ogawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki, Masato Mori, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Shori Takahashi, Akira Ohtake, Kei Murayama
J Inherit Metab Dis. 2017; 40(5): 685–693. Published online 2017 Apr 20. doi: 10.1007/s10545-017-0042-6
PMCID:
PMC5579154
ArticlePubReaderPDF–393KCite
16.
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
René G. Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B. Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Sternberg, Christine Makowski, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B. Haack, Johannes A. Mayr
Oxid Med Cell Longev. 2017; 2017: 7202589. Published online 2017 Jul 19. doi: 10.1155/2017/7202589
PMCID:
PMC5540226
ArticlePubReaderPDF–2.1MCite
17.
MicroRNA‐455 regulates brown adipogenesis via a novel HIF1an‐AMPK‐PGC1α signaling network
Hongbin Zhang, Meiping Guan, Kristy L Townsend, Tian Lian Huang, Ding An, Xu Yan, Ruidan Xue, Tim J Schulz, Jonathon Winnay, Marcelo Mori, Michael F Hirshman, Karsten Kristiansen, John S Tsang, Andrew P White, Aaron M Cypess, Laurie J Goodyear, Yu‐Hua Tseng
EMBO Rep. 2015 Oct; 16(10): 1378–1393. Published online 2015 Aug 24. doi: 10.15252/embr.201540837
PMCID:
PMC4766451
ArticlePubReaderPDF–2.2MCite
18.
Parkin-independent mitophagy requires Drp1 and maintains the integrity of mammalian heart and brain
Yusuke Kageyama, Masahiko Hoshijima, Kinya Seo, Djahida Bedja, Polina Sysa-Shah, Shaida A Andrabi, Weiran Chen, Ahmet Höke, Valina L Dawson, Ted M Dawson, Kathleen Gabrielson, David A Kass, Miho Iijima, Hiromi Sesaki
EMBO J. 2014 Dec 1; 33(23): 2798–2813. Published online 2014 Oct 27. doi: 10.15252/embj.201488658
PMCID:
PMC4282557
ArticlePubReaderPDF–4.3MCite
19.
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
Alžběta Vondráčková, Kateřina Veselá, Hana Kratochvílová, Vendula Kučerová Vidrová, Kamila Vinšová, Viktor Stránecký, Tomáš Honzík, Hana Hansíková, Jiří Zeman, Markéta Tesařová
Eur J Hum Genet. 2014 Mar; 22(3): 431–434. Published online 2013 Jul 10. doi: 10.1038/ejhg.2013.148
PMCID:
PMC3925276
ArticlePubReaderPDF–289KCite
20.
Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction
L. T. W. Schreuder, M. W. G. Nijhuis-van der Sanden, A. de Hair, G. Peters, S. Wortmann, L. A. Bok, E. Morava
J Inherit Metab Dis. 2010; 33(Suppl 3): 205–209. Published online 2010 May 5. doi: 10.1007/s10545-010-9085-7
PMCID:
PMC3757256
ArticlePubReaderPDF–143KCite

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