PMC Links for GEO Profiles (Select 26075460) - PMC

Austin A. Larson, Shanti Balasubramaniam, John Christodoulou, Lindsay C. Burrage, Ronit Marom, Brett H. Graham, George A. Diaz, Emma Glamuzina, Natalie Hauser, Bryce Heese, Gabriella Horvath, Andre Mattman, Clara van Karnebeek, S. Lane Rutledge, Amy Williamson, Lissette Estrella, Johan K.L. Van Hove, James D. Weisfeld-Adams

Mitochondrion. Author manuscript; available in PMC 2023 May 22.

Published in final edited form as: Mitochondrion. 2019 Jan; 44: 58–64. Published online 2018 Jan 4. doi: 10.1016/j.mito.2018.01.001

PMCID:: PMC10201920

Abstract Article PDF–312K

Select item 101518284.

Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast

Emilia Baranowska, Katarzyna Niedzwiecka, Chiranjit Panja, Camille Charles, Alain Dautant, Jarosław Poznanski, Jean-Paul di Rago, Déborah Tribouillard-Tanvier, Roza Kucharczyk

Dis Model Mech. 2023 Apr 1; 16(4): dmm049783. Published online 2023 Apr 21. doi: 10.1242/dmm.049783

PMCID:: PMC10151828

Abstract Article

Select item 96184755.

A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8

Mayyas Saleh Jaweesh, Mohamad Eid Hammadeh, Fatina W. Dahadhah, Mohammad A. Al Smadi, Mazhar Salim Al Zoubi, Manal Issam Abu Alarjah, Houda Amor

Mol Biol Rep. 2022; 49(11): 10229–10238. Published online 2022 Sep 6. doi: 10.1007/s11033-022-07884-2

PMCID:: PMC9618475

Abstract Article PDF–892K

Select item 95236456.

SARS-CoV-2 Nsp6 damages Drosophila heart and mouse cardiomyocytes through MGA/MAX complex-mediated increased glycolysis

Jun-yi Zhu, Guanglei Wang, Xiaohu Huang, Hangnoh Lee, Jin-Gu Lee, Penghua Yang, Joyce van de Leemput, Weiliang Huang, Maureen A. Kane, Peixin Yang, Zhe Han

Commun Biol. 2022; 5: 1039. Published online 2022 Sep 30. doi: 10.1038/s42003-022-03986-6

PMCID:: PMC9523645

Abstract Article PDF–3.9M

Select item 90886947.

Analysis of mitochondrial DNA cytochrome‐b (CYB) and ATPase‐6 gene mutations in COVID‐19 patients

Ebubekir Dirican, Şeyda Tuba Savrun, İsmail Erkan Aydın, Gonca Gülbay, Ülkü Karaman

J Med Virol. 2022 Jul; 94(7): 3138–3146. Published online 2022 Mar 22. doi: 10.1002/jmv.27704

PMCID:: PMC9088694

Abstract Article PDF–1.1M

Select item 90147118.

Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins

Fabian Hosp, Hannes Vossfeldt, Matthias Heinig, Djordje Vasiljevic, Anup Arumughan, Emanuel Wyler, Genetic and Environmental Risk for Alzheimer’s Disease (GERAD1) Consortium, Markus Landthaler, Norbert Hubner, Erich E. Wanker, Lars Lannfelt, Martin Ingelsson, Maciej Lalowski, Aaron Voigt, Matthias Selbach

Cell Rep. Author manuscript; available in PMC 2022 Apr 18.

Published in final edited form as: Cell Rep. 2015 May 19; 11(7): 1134–1146. Published online 2015 May 7. doi: 10.1016/j.celrep.2015.04.030

PMCID:: PMC9014711

Abstract Article PDF–2.2M

Select item 89472439.

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

Sebastian Kenvin, Ruben Torregrosa-Muñumer, Marco Reidelbach, Jana Pennonen, Jeremi J Turkia, Erika Rannila, Jouni Kvist, Markus T Sainio, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Mari Auranen, Ras Trokovic, Vivek Sharma, Emil Ylikallio, Henna Tyynismaa

Hum Mol Genet. 2022 Mar 15; 31(6): 958–974. Published online 2021 Oct 12. doi: 10.1093/hmg/ddab299

PMCID:: PMC8947243

Abstract Article PDF–2.7M

Select item 856354010.

Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia

Dagmar Nolte, Jun-Suk Kang, Amrei Hofmann, Eva Schwaab, Heidrun H. Krämer, Ulrich Müller

J Neurol. 2021; 268(12): 4866–4873. Published online 2021 May 26. doi: 10.1007/s00415-021-10607-5

PMCID:: PMC8563540

Abstract Article PDF–2.0M

Select item 816503011.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 795110912.

Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy

Laura Licchetta, Lorenzo Ferri, Chiara La Morgia, Corrado Zenesini, Leonardo Caporali, Maria Lucia Valentino, Raffaella Minardi, Daniela Fulitano, Lidia Di Vito, Barbara Mostacci, Lara Alvisi, Patrizia Avoni, Rocco Liguori, Paolo Tinuper, Francesca Bisulli, Valerio Carelli

Ann Clin Transl Neurol. 2021 Mar; 8(3): 704–710. Published online 2021 Jan 21. doi: 10.1002/acn3.51259

PMCID:: PMC7951109

Abstract Article PDF–598K

Select item 739233413.

Proteome-wide identification of HSP70/HSC70 chaperone clients in human cells

Seung W. Ryu, Rose Stewart, D. Chase Pectol, Nicolette A. Ender, Oshadi Wimalarathne, Ji-Hoon Lee, Carlos P. Zanini, Antony Harvey, Jon M. Huibregtse, Peter Mueller, Tanya T. Paull

PLoS Biol. 2020 Jul; 18(7): e3000606. Published online 2020 Jul 20. doi: 10.1371/journal.pbio.3000606

PMCID:: PMC7392334

Abstract Article PDF–2.7M

Select item 720679314.

LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling

Jin Huk Choi, Xue Zhong, William McAlpine, Tzu-Chieh Liao, Duanwu Zhang, Beibei Fang, Jamie Russell, Sara Ludwig, Evan Nair-Gill, Zhao Zhang, Kuan-wen Wang, Takuma Misawa, Xiaoming Zhan, Mihwa Choi, Tao Wang, Xiaohong Li, Miao Tang, Qihua Sun, Liyang Yu, Anne R. Murray, Eva Marie Y. Moresco, Bruce Beutler

Science. Author manuscript; available in PMC 2020 May 8.

Published in final edited form as: Science. 2019 May 10; 364(6440): eaau0812. doi: 10.1126/science.aau0812

PMCID:: PMC7206793

Abstract Article PDF–2.2M

Select item 713853715.

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

Johanna Hietamäki, Louise C Gregory, Sandy Ayoub, Anna-Pauliina Iivonen, Kirsi Vaaralahti, Xiaonan Liu, Nina Brandstack, Andrew J Buckton, Tiina Laine, Johanna Känsäkoski, Matti Hero, Päivi J Miettinen, Markku Varjosalo, Emma Wakeling, Mehul T Dattani, Taneli Raivio

J Clin Endocrinol Metab. 2020 Jun; 105(6): 1748–1758. Published online 2020 Feb 15. doi: 10.1210/clinem/dgaa078

PMCID:: PMC7138537

Abstract Article

Select item 677813716.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 649858517.

Parkinson’s disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes

Jee Hoon Lee, Ji-hye Han, Hyunmi Kim, Sang Myun Park, Eun-hye Joe, Ilo Jou

Acta Neuropathol Commun. 2019; 7: 68. Published online 2019 May 2. doi: 10.1186/s40478-019-0716-4

PMCID:: PMC6498585

Abstract Article PDF–6.9M

Select item 645942018.

The 7q11.23 Protein DNAJC30 is an Auxiliary Component of ATP Synthase and Links Mitochondria to Brain Development

Andrew T. N. Tebbenkamp, Luis Varela, Jinmyung Choi, Miguel I. Paredes, Alice M. Giani, Jae Eun Song, Matija Sestan-Pesa, Daniel Franjic, André M. M. Sousa, Zhong-Wu Liu, Mingfeng Li, Candace Bichsel, Marco Koch, Klara Szigeti-Buck, Fuchen Liu, Zhuo Li, Yuka I. Kawasawa, Constantinos D. Paspalas, Yann S. Mineur, Paolo Prontera, Giuseppe Merla, Marina R. Picciotto, Amy F. T. Arnsten, Tamas L. Horvath, Nenad Sestan

Cell. Author manuscript; available in PMC 2019 Apr 11.

Published in final edited form as: Cell. 2018 Nov 1; 175(4): 1088–1104.e23. doi: 10.1016/j.cell.2018.09.014

PMCID:: PMC6459420

Abstract Article PDF–3.5M

Select item 629516519.

BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression

Lei Yu, Natee Jearawiriyapaisarn, Mary P. Lee, Tomonori Hosoya, Qingqing Wu, Greggory Myers, Kim-Chew Lim, Ryo Kurita, Yukio Nakamura, Anne B. Vojtek, Jean-François Rual, James Douglas Engel

Genes Dev. 2018 Dec 1; 32(23-24): 1537–1549. doi: 10.1101/gad.318436.118

PMCID:: PMC6295165

Abstract Article PDF–3.5M

Select item 626929920.

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

Simon Berhe, Matthew M. Heeney, Dean R. Campagna, John F. Thompson, Eric J. White, Tristen Ross, Roy W. A. Peake, Jeffery D. Hanrahan, Vilmarie Rodriguez, Deborah L. Renaud, Mrinal S. Patnaik, Eugenia Chang, Sylvia S. Bottomley, Mark D. Fleming

Haematologica. 2018 Dec; 103(12): e561–e563. doi: 10.3324/haematol.2018.199109

PMCID:: PMC6269299

Article PDF–97K

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