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Select item 55807371.

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Jillian P. Casey, Ellen Crushell, Kyle Thompson, Eilish Twomey, Langping He, Sean Ennis, Roy K. Philip, Robert W. Taylor, Mary D. King, Sally Ann Lynch

JIMD Rep. 2016; 26: 13–19. Published online 2015 Aug 4. doi: 10.1007/8904_2015_479

PMCID:: PMC5580737

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Select item 106712452.

Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis

Emmanuelle C. Genin, Mélanie Abou-Ali, Véronique Paquis-Flucklinger

Genes (Basel) 2023 Nov; 14(11): 1981. Published online 2023 Oct 24. doi: 10.3390/genes14111981

PMCID:: PMC10671245

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Select item 106576833.

Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1

Valeria Di Leo, Conor Lawless, Marie-Pier Roussel, Tiago B. Gomes, Gráinne S. Gorman, Oliver M. Russell, Helen A.L. Tuppen, Elise Duchesne, Amy E. Vincent

J Neuromuscul Dis. 2023; 10(6): 1111–1126. Prepublished online 2023 Aug 25. Published online 2023 Nov 7. doi: 10.3233/JND-230099

PMCID:: PMC10657683

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Select item 106455944.

Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liver

Chrysa Nikopoulou, Niklas Kleinenkuhnen, Swati Parekh, Tonantzi Sandoval, Christoph Ziegenhain, Farina Schneider, Patrick Giavalisco, Kat-Folz Donahue, Anna Juliane Vesting, Marcel Kirchner, Mihaela Bozukova, Christian Vossen, Janine Altmüller, Thomas Wunderlich, Rickard Sandberg, Vangelis Kondylis, Achim Tresch, Peter Tessarz

Nat Aging. 2023; 3(11): 1430–1445. Published online 2023 Nov 9. doi: 10.1038/s43587-023-00513-y

PMCID:: PMC10645594

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Select item 106376775.

Integrated taxonomy of black flies (Diptera: Simuliidae) reveals unexpected diversity in the most arid ecosystem of Europe

Ignacio Ruiz-Arrondo, Jesús Veiga, Peter H. Adler, Francisco Collantes, José A. Oteo, Francisco Valera

PLoS One. 2023; 18(11): e0293547. Published online 2023 Nov 10. doi: 10.1371/journal.pone.0293547

PMCID:: PMC10637677

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Select item 104743026.

Alternative oxidase causes cell type- and tissue-specific responses in mutator mice

Lilli Ikonen, Sini Pirnes-Karhu, Swagat Pradhan, Howard T Jacobs, Marten Szibor, Anu Suomalainen

Life Sci Alliance. 2023 Nov; 6(11): e202302036. Published online 2023 Sep 1. doi: 10.26508/lsa.202302036

PMCID:: PMC10474302

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Select item 104077007.

Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich’s ataxia

Tslil Ast, Hong Wang, Eizo Marutani, Fumiaki Nagashima, Rajeev Malhotra, Fumito Ichinose, Vamsi K Mootha

Hum Mol Genet. 2023 Aug 15; 32(16): 2600–2610. Published online 2023 Jun 1. doi: 10.1093/hmg/ddad091

PMCID:: PMC10407700

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Select item 102650718.

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang

Mol Genet Genomic Med. 2023 Jun; 11(6): e2152. Published online 2023 Feb 14. doi: 10.1002/mgg3.2152

PMCID:: PMC10265071

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Select item 102301719.

Mitochondrial pyruvate dehydrogenase kinases contribute to platelet function and thrombosis in mice by regulating aerobic glycolysis

Gagan D. Flora, Manasa K. Nayak, Madankumar Ghatge, Mariia Kumskova, Rakesh B. Patel, Anil K. Chauhan

Blood Adv. 2023 Jun 13; 7(11): 2347–2359. Published online 2023 Mar 28. doi: 10.1182/bloodadvances.2023010100

PMCID:: PMC10230171

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Select item 1008036110.

Essential Principles and Recent Progress in the Development of TSPO PET Ligands for Neuroinflammation Imaging

Monica Viviano, Elisabetta Barresi, Fabrice G. Siméon, Barbara Costa, Sabrina Taliani, Federico Da Settimo, Victor W. Pike, Sabrina Castellano

Curr Med Chem. Author manuscript; available in PMC 2023 Apr 7.

Published in final edited form as: Curr Med Chem. 2022 Aug 6; 29(28): 4862–4890. doi: 10.2174/0929867329666220329204054

PMCID:: PMC10080361

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Select item 967888111.

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome

Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati

Cell Death Dis. 2022 Nov; 13(11): 981. Published online 2022 Nov 21. doi: 10.1038/s41419-022-05410-7

PMCID:: PMC9678881

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Select item 961779112.

Autophagy inhibition impairs leukemia stem cell function in FLT3-ITD AML but has antagonistic interactions with tyrosine kinase inhibition

Shaowei Qiu, Harish Kumar, Chengcheng Yan, Hui Li, Andrew J. Paterson, Nicholas R. Anderson, Jianbo He, Jing Yang, Min Xie, David K. Crossman, Rui Lu, Robert S. Welner, Ravi Bhatia

Leukemia. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Leukemia. 2022 Nov; 36(11): 2621–2633. Published online 2022 Oct 11. doi: 10.1038/s41375-022-01719-6

PMCID:: PMC9617791

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Select item 953683813.

Independent regulation of mitochondrial DNA quantity and quality in Caenorhabditis elegans primordial germ cells

Aaron ZA Schwartz, Nikita Tsyba, Yusuff Abdu, Maulik R Patel, Jeremy Nance

eLife. 2022; 11: e80396. Published online 2022 Oct 6. doi: 10.7554/eLife.80396

Correction in:: eLife. 2023; 12: e93941.

PMCID:: PMC9536838

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Select item 939749614.

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

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Select item 928138215.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Marjo S. van der Knaap, Marianna Bugiani, Marisa I. Mendes, Lisa G. Riley, Desiree E.C. Smith, Joëlle Rudinger-Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, Meyke Schouten, Marjolaine Willems, Quinten Waisfisz, Frederic Tran Mau-Them, Richard J. Rodenburg, Ryan J. Taft, Boris Keren, John Christodoulou, Christel Depienne, Cas Simons, Gajja S. Salomons, Fanny Mochel

Neurology. 2019 Mar 12; 92(11): e1225–e1237. doi: 10.1212/WNL.0000000000007098

Correction in:: Neurology, volume 93 on page 982

PMCID:: PMC9281382

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Select item 922501516.

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

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Select item 918205017.

Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs

Vincenzo Tragni, Guido Primiano, Albina Tummolo, Lucas Cafferati Beltrame, Gianluigi La Piana, Maria Noemi Sgobba, Maria Maddalena Cavalluzzi, Giulia Paterno, Ruggiero Gorgoglione, Mariateresa Volpicella, Lorenzo Guerra, Domenico Marzulli, Serenella Servidei, Anna De Grassi, Giuseppe Petrosillo, Giovanni Lentini, Ciro Leonardo Pierri

Molecules. 2022 Jun; 27(11): 3494. Published online 2022 May 29. doi: 10.3390/molecules27113494

PMCID:: PMC9182050

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Select item 910632718.

Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species

Osvaldo Villa, Nicole L Stuhr, Chia-an Yen, Eileen M Crimmins, Thalida Em Arpawong, Sean P Curran

eLife. 2022; 11: e74308. Published online 2022 Apr 26. doi: 10.7554/eLife.74308

PMCID:: PMC9106327

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Select item 909739119.

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

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Select item 894600620.

Anabolic Factors and Myokines Improve Differentiation of Human Embryonic Stem Cell Derived Skeletal Muscle Cells

Travis Ruan, Dylan Harney, Yen Chin Koay, Lipin Loo, Mark Larance, Leslie Caron

Cells. 2022 Mar; 11(6): 963. Published online 2022 Mar 11. doi: 10.3390/cells11060963

PMCID:: PMC8946006

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