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Select item 107251861.

Lactate limits CNS autoimmunity by stabilizing HIF-1α in dendritic cells

Liliana M. Sanmarco, Joseph M. Rone, Carolina M. Polonio, Gonzalo Fernandez Lahore, Federico Giovannoni, Kylynne Ferrara, Cristina Gutierrez-Vazquez, Ning Li, Anna Sokolovska, Agustin Plasencia, Camilo Faust Akl, Payal Nanda, Evelin S. Heck, Zhaorong Li, Hong-Gyun Lee, Chun-Cheih Chao, Claudia M. Rejano-Gordillo, Pedro H. Fonseca-Castro, Tomer Illouz, Mathias Linnerbauer, Jessica E. Kenison, Rocky M. Barilla, Daniel Farrenkopf, Nikolas A. Stevens, Gavin Piester, Elizabeth N. Chung, Lucas Dailey, Vijay K. Kuchroo, David Hava, Michael A. Wheeler, Clary Clish, Roni Nowarski, Eduardo Balsa, Jose M. Lora, Francisco J. Quintana

Nature. Author manuscript; available in PMC 2023 Dec 16.

Published in final edited form as: Nature. 2023 Aug; 620(7975): 881–889. Published online 2023 Aug 9. doi: 10.1038/s41586-023-06409-6

PMCID:: PMC10725186

Abstract Article PDF–6.4M

Select item 107077302.

Molecular Analysis of Dihydropteroate Synthase Gene Mutations in Pneumocystis jirovecii Isolates among Bulgarian Patients with Pneumocystis Pneumonia

Nina Tsvetkova, Rumen Harizanov, Iskra Rainova, Aleksandra Ivanova, Nina Yancheva-Petrova

Int J Mol Sci. 2023 Dec; 24(23): 16927. Published online 2023 Nov 29. doi: 10.3390/ijms242316927

PMCID:: PMC10707730

Abstract Article PDF–3.3M

Select item 102188393.

Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes

Emanuele Monda, Michele Lioncino, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Marta Rubino, Alessia Perna, Alfredo Mauriello, Alberta Budillon, Vincenzo Pota, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli

Int J Mol Sci. 2023 May; 24(10): 9108. Published online 2023 May 22. doi: 10.3390/ijms24109108

PMCID:: PMC10218839

Abstract Article PDF–2.9M

Select item 101273054.

Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova

Orphanet J Rare Dis. 2023; 18: 92. Published online 2023 Apr 24. doi: 10.1186/s13023-023-02689-3

PMCID:: PMC10127305

Abstract Article PDF–1.6M

Select item 96552075.

Amyloid Beta in Aging and Alzheimer’s Disease

Ujala Sehar, Priyanka Rawat, Arubala P. Reddy, Jonathan Kopel, P. Hemachandra Reddy

Int J Mol Sci. 2022 Nov; 23(21): 12924. Published online 2022 Oct 26. doi: 10.3390/ijms232112924

PMCID:: PMC9655207

Abstract Article PDF–2.6M

Select item 94560836.

Reversal of High-Fat Diet-Induced Non-Alcoholic Fatty Liver Disease by Metformin Combined with PGG, an Inducer of Glycine N-Methyltransferase

Ming-Hui Yang, Wei-You Li, Ching-Fen Wu, Yi-Ching Lee, Allan Yi-Nan Chen, Yu-Chang Tyan, Yi-Ming Arthur Chen

Int J Mol Sci. 2022 Sep; 23(17): 10072. Published online 2022 Sep 3. doi: 10.3390/ijms231710072

PMCID:: PMC9456083

Abstract Article PDF–5.9M

Select item 93974967.

Combined fibre atrophy and decreased muscle regeneration capacity driven by mitochondrial DNA alterations underlie the development of sarcopenia

Sammy Kimoloi, Ayesha Sen, Stefan Guenther, Thomas Braun, Tobias Brügmann, Philipp Sasse, Rudolf J. Wiesner, David Pla‐Martín, Olivier R. Baris

J Cachexia Sarcopenia Muscle. 2022 Aug; 13(4): 2132–2145. Published online 2022 Jun 28. doi: 10.1002/jcsm.13026

PMCID:: PMC9397496

Abstract Article PDF–63M

Select item 92250158.

Integrating multi-omics data reveals function and therapeutic potential of deubiquitinating enzymes

Laura M Doherty, Caitlin E Mills, Sarah A Boswell, Xiaoxi Liu, Charles Tapley Hoyt, Benjamin Gyori, Sara J Buhrlage, Peter K Sorger

eLife. 2022; 11: e72879. Published online 2022 Jun 23. doi: 10.7554/eLife.72879

PMCID:: PMC9225015

Abstract Article PDF–3.2M

Select item 89866239.

A genome-scale gain-of-function CRISPR screen in CD8 T cells identifies proline metabolism as a means to enhance CAR-T therapy

Lupeng Ye, Jonathan J. Park, Lei Peng, Quanjun Yang, Ryan D. Chow, Matthew B. Dong, Stanley Z. Lam, Jianjian Guo, Erting Tang, Yueqi Zhang, Guangchuan Wang, Xiaoyun Dai, Yaying Du, Hyunu R. Kim, Hanbing Cao, Youssef Errami, Paul Clark, Alexey Bersenev, Ruth R. Montgomery, Sidi Chen

Cell Metab. Author manuscript; available in PMC 2023 Apr 5.

Published in final edited form as: Cell Metab. 2022 Apr 5; 34(4): 595–614.e14. Published online 2022 Mar 10. doi: 10.1016/j.cmet.2022.02.009

PMCID:: PMC8986623

Abstract Article PDF–3.7M

Select item 887746610.

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Jing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, Elizabeth M. McCormick, Erfan Aref Eshghi, Alison M. Muir, Kajia Cao, Juliana Troiani, Alicia Moseley, Zhiqian Fan, Zarazuela Zolkipli-Cunningham, Amy Goldstein, Rebecca D. Ganetzky, Colleen C. Muraresku, James T Peterson, Nancy B. Spinner, Douglas C. Wallace, Matthew C. Dulik, Marni J. Falk

Mol Genet Metab. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Mol Genet Metab. 2022 Jan; 135(1): 93–101. Published online 2021 Dec 18. doi: 10.1016/j.ymgme.2021.12.006

PMCID:: PMC8877466

Abstract Article PDF–746K

Select item 861660811.

Autophagy, TERT, and mitochondrial dysfunction in hyperoxia

Andreas M. Beyer, Laura E. Norwood Toro, William E. Hughes, Micaela Young, Anne V. Clough, Feng Gao, Meetha Medhora, Said H. Audi, Elizabeth R. Jacobs

Am J Physiol Heart Circ Physiol. 2021 Nov 1; 321(5): H985–H1003. Published online 2021 Sep 24. doi: 10.1152/ajpheart.00166.2021

PMCID:: PMC8616608

Abstract Article

Select item 827042812.

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger

PLoS One. 2021; 16(7): e0253987. Published online 2021 Jul 9. doi: 10.1371/journal.pone.0253987

PMCID:: PMC8270428

Abstract Article PDF–1.3M

Select item 823564013.

Aedes albopictus diversity and relationships in south-western Europe and Brazil by rDNA/mtDNA and phenotypic analyses: ITS-2, a useful marker for spread studies

Patricio Artigas, Marta Reguera-Gomez, María Adela Valero, David Osca, Raquel da Silva Pacheco, María Goreti Rosa-Freitas, Teresa Fernandes Silva-do-Nascimento, Claudia Paredes-Esquivel, Javier Lucientes, Santiago Mas-Coma, María Dolores Bargues

Parasit Vectors. 2021; 14: 333. Published online 2021 Jun 26. doi: 10.1186/s13071-021-04829-9

PMCID:: PMC8235640

Abstract Article PDF–3.0M

Select item 817544814.

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

Abstract Article PDF–1.4M

Select item 769480915.

Cytauxzoon felis cytochrome b gene mutation associated with atovaquone and azithromycin treatment

Ashley N. Hartley, Henry S. Marr, Adam J. Birkenheuer

J Vet Intern Med. 2020 Nov-Dec; 34(6): 2432–2437. Published online 2020 Nov 4. doi: 10.1111/jvim.15935

PMCID:: PMC7694809

Abstract Article PDF–1.6M

Select item 742281816.

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy

Jian-Kang Li, Wei Li, Feng-Juan Gao, Shou-Fang Qu, Fang-Yuan Hu, Sheng-Hai Zhang, Li-Li Li, Zi-Wei Wang, Yong Qiu, Lu-Sheng Wang, Jie Huang, Ji-Hong Wu, Fang Chen

Transl Vis Sci Technol. 2020 Jul; 9(8): 11. Published online 2020 Jul 8. doi: 10.1167/tvst.9.8.11

PMCID:: PMC7422818

Abstract Article PDF–1.5M

Select item 731857917.

Mitochondrial DNA copy number is associated with all‐cause mortality and cardiovascular events in patients with peripheral arterial disease

A. Koller, F. Fazzini, C. Lamina, B. Rantner, B. Kollerits, M. Stadler, P. Klein‐Weigel, G. Fraedrich, F. Kronenberg

J Intern Med. 2020 May; 287(5): 569–579. Published online 2020 Feb 9. doi: 10.1111/joim.13027

PMCID:: PMC7318579

Abstract Article PDF–907K

Select item 708659918.

Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

Liza J. McCann, Jo McPartland, Dawn Barge, Lisa Strain, David Bourn, Eduardo Calonje, Julian Verbov, Andrew Riordan, George Kokai, Chris M. Bacon, Michael Wright, Mario Abinun

J Clin Immunol. 2014; 34(1): 42–48. Published online 2013 Nov 12. doi: 10.1007/s10875-013-9962-6

PMCID:: PMC7086599

Abstract Article PDF–443K

Select item 700518519.

Mitochondrial toxicity and body shape changes during nucleos(t)ide analogues administration in patients with chronic hepatitis B

Giordano Madeddu, Vito Fiore, Michela Melis, Silvia Ortu, Franca Mannu, Alberto Augusto Muredda, Giovanni Garrucciu, Franco Bandiera, Salvatore Zaru, Paola Bagella, Diego Francesco Calvisi, Sergio Babudieri

Sci Rep. 2020; 10: 2014. Published online 2020 Feb 6. doi: 10.1038/s41598-020-58837-3

PMCID:: PMC7005185

Abstract Article PDF–1.1M

Select item 700463620.

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

Abstract Article PDF–213K

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