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Items: 20

1.
Mitochondrial haplogroups and cognitive progression in Parkinson’s disease
Ganqiang Liu, Chunming Ni, Jiamin Zhan, Weimin Li, Junfeng Luo, Zhixiang Liao, Joseph J Locascio, Wenbiao Xian, Ling Chen, Zhong Pei, Jean-Christophe Corvol, Jodi Maple-Grødem, Meghan C Campbell, Alexis Elbaz, Suzanne Lesage, Alexis Brice, Albert Y Hung, Michael A Schwarzschild, Michael T Hayes, Anne-Marie Wills, Bernard Ravina, Ira Shoulson, Pille Taba, Sulev Kõks, Thomas G Beach, Florence Cormier-Dequaire, Guido Alves, Ole-Bjørn Tysnes, Joel S Perlmutter, Peter Heutink, Jacobus J van Hilten, Roger A Barker, Caroline H Williams-Gray, Clemens R Scherzer, International Genetics of Parkinson Disease Progression (IGPP) Consortium
Brain. 2023 Jan; 146(1): 42–49. Published online 2022 Nov 8. doi: 10.1093/brain/awac327
PMCID:
PMC10202390
ArticlePubReaderPDF–506KCite
2.
Data-independent acquisition-based quantitative proteomic analysis of m.3243A>G MELAS reveals novel potential pathogenesis and therapeutic targets
Xueli Chang, Zhaoxu Yin, Wei Zhang, Jiaying Shi, Chuanqiang Pu, Qiang Shi, Juan Wang, Jing Zhang, Li Yan, Wenqu Yang, Junhong Guo
Medicine (Baltimore) 2022 Oct 14; 101(41): e30938. Published online 2022 Oct 14. doi: 10.1097/MD.0000000000030938
PMCID:
PMC9575705
ArticlePubReaderPDF–943KCite
3.
Genome-wide DNA methylation status of Mongolians exhibits signs of cellular stress response related to their nomadic lifestyle
Yuta Inaba, Sadahiko Iwamoto, Kazuhiro Nakayama
J Physiol Anthropol. 2022; 41: 30. Published online 2022 Aug 19. doi: 10.1186/s40101-022-00305-0
PMCID:
PMC9388360
ArticlePubReaderPDF–1.1MCite
4.
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat, Guy Lenaers
Orphanet J Rare Dis. 2022; 17: 197. Published online 2022 May 12. doi: 10.1186/s13023-022-02340-7
PMCID:
PMC9097391
ArticlePubReaderPDF–4.1MCite
5.
PPFIA4 promotes castration-resistant prostate cancer by enhancing mitochondrial metabolism through MTHFD2
Ru Zhao, Tingting Feng, Lin Gao, Feifei Sun, Qianqian Zhou, Xin Wang, Junmei Liu, Wenbo Zhang, Meng Wang, Xueting Xiong, Wenqiao Jia, Weiwen Chen, Lin Wang, Bo Han
J Exp Clin Cancer Res. 2022; 41: 125. Published online 2022 Apr 5. doi: 10.1186/s13046-022-02331-3
PMCID:
PMC8985307
ArticlePubReaderPDF–11MCite
6.
Lipid reprogramming induced by the TFEB-ERRα axis enhanced membrane fluidity to promote EC progression
Xiaodan Mao, Huifang Lei, Tianjin Yi, Pingping Su, Shuting Tang, Yao Tong, Binhua Dong, Guanyu Ruan, Alexander Mustea, Jalid Sehouli, Pengming Sun
J Exp Clin Cancer Res. 2022; 41: 28. Published online 2022 Jan 19. doi: 10.1186/s13046-021-02211-2
PMCID:
PMC8767755
ArticlePubReaderPDF–6.4MCite
7.
Characterization of SSBP1-related optic atrophy and foveopathy
Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers
Sci Rep. 2021; 11: 18703. Published online 2021 Sep 21. doi: 10.1038/s41598-021-98150-1
PMCID:
PMC8455542
ArticlePubReaderPDF–1.5MCite
8.
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study
Valérie Biousse, Nancy J. Newman, Patrick Yu-Wai-Man, Valerio Carelli, Mark L. Moster, Catherine Vignal-Clermont, Thomas Klopstock, Alfredo A. Sadun, Robert C. Sergott, Rabih Hage, Simona Esposti, Chiara La Morgia, Claudia Priglinger, Rustum Karanja, Laure Blouin, Magali Taiel, José-Alain Sahel
J Neuroophthalmol. 2021 Sep; 41(3): 309–315. Published online 2020 Aug 28. doi: 10.1097/WNO.0000000000001367
PMCID:
PMC8366761
ArticlePubReaderPDF–224KCite
9.
A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY
Isabelle Meunier, Béatrice Bocquet, Majida Charif, Claire-Marie Dhaenens, Gael Manes, Patrizia Amati-Bonneau, Agathe Roubertie, Xavier Zanlonghi, Guy Lenaers
Retina. 2021 Aug; 41(8): 1771–1779. Published online 2020 Dec 14. doi: 10.1097/IAE.0000000000003054
PMCID:
PMC8297537
ArticlePubReaderPDF–623KCite
10.
Football and team handball training postpone cellular aging in women
Marie Hagman, Bjørn Fristrup, Rémi Michelin, Peter Krustrup, Muhammad Asghar
Sci Rep. 2021; 11: 11733. Published online 2021 Jun 3. doi: 10.1038/s41598-021-91255-7
PMCID:
PMC8175448
ArticlePubReaderPDF–1.4MCite
11.
Platelet mitochondrial DNA methylation predicts future cardiovascular outcome in adults with overweight and obesity
Sarah Corsi, Simona Iodice, Luisella Vigna, Akin Cayir, John C. Mathers, Valentina Bollati, Hyang-Min Byun
Clin Epigenetics. 2020; 12: 29. Published online 2020 Feb 17. doi: 10.1186/s13148-020-00825-5
PMCID:
PMC7026975
ArticlePubReaderPDF–1.2MCite
12.
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
13.
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
Tereza Danhelovska, Hana Kolarova, Jiri Zeman, Hana Hansikova, Manuela Vaneckova, Lukas Lambert, Vendula Kucerova-Vidrova, Kamila Berankova, Tomas Honzik, Marketa Tesarova
BMC Pediatr. 2020; 20: 41. Published online 2020 Jan 29. doi: 10.1186/s12887-020-1912-x
PMCID:
PMC6988306
ArticlePubReaderPDF–2.8MCite
14.
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E. W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porcelli, Silvy J. M. van Dooren, Pascal Lennertz, Benjamin Nota, Jose E. Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc Nuoffer, Branka Polic, René Santer, Natalie Weinhold, Britton Zuccarelli, Ferdinando Palmieri, Luigi Palmieri, Gajja S. Salomons
J Inherit Metab Dis. 2018; 41(2): 169–180. Published online 2017 Dec 13. doi: 10.1007/s10545-017-0106-7
PMCID:
PMC5830478
ArticlePubReaderPDF–2.1MCite
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.
PERFORMANCE OF CONVENTIONAL PCRs BASED ON PRIMERS DIRECTED TO NUCLEAR AND MITOCHONDRIAL GENES FOR THE DETECTION AND IDENTIFICATION OF Leishmania spp.
Estela Gallucci LOPES, Carlos Alberto GERALDO, JUNIOR, Arlei MARCILI, Ricardo Duarte SILVA, Lara Borges KEID, Trícia Maria Ferreira da Silva OLIVEIRA, Rodrigo Martins SOARES
Rev Inst Med Trop Sao Paulo. 2016; 58: 41. Published online 2016 May 24. doi: 10.1590/S1678-9946201658041
PMCID:
PMC4879998
ArticlePubReaderPDF–432KCite
17.
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase
Reetta Hinttala, Florin Sasarman, Tamiko Nishimura, Hana Antonicka, Catherine Brunel-Guitton, Jeremy Schwartzentruber, Somayyeh Fahiminiya, Jacek Majewski, Denis Faubert, Elsebet Ostergaard, Jan A. Smeitink, Eric A. Shoubridge
Hum Mol Genet. 2015 Jul 15; 24(14): 4103–4113. Published online 2015 Apr 24. doi: 10.1093/hmg/ddv149
PMCID:
PMC4476453
ArticlePubReaderPDF–627KCite
18.
Beyond Retrograde and Anterograde Signaling: Mitochondrial – Nuclear Interactions as a means for Evolutionary Adaptation and Contemporary Disease Susceptibility
Scott W. Ballinger
Biochem Soc Trans. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Biochem Soc Trans. 2013 Feb 1; 41(1): 111–117. doi: 10.1042/BST20120227
PMCID:
PMC3595122
ArticlePubReaderPDF–642KCite
19.
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
P Benit, A Slama, F Cartault, I Giurgea, D Chretien, S Lebon, C Marsac, A Munnich, A Rotig, P Rustin
J Med Genet. 2004 Jan; 41(1): 14–17. doi: 10.1136/jmg.2003.014316
PMCID:
PMC1757256
SummaryPDF–369KCite
20.
Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome
A Limongelli, J Schaefer, S Jackson, F Invernizzi, Y Kirino, T Suzuki, H Reichmann, M Zeviani
J Med Genet. 2004 May; 41(5): 342–349. doi: 10.1136/jmg.2003.016048
PMCID:
PMC1735786
SummaryPDF–631KCite

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