PMC Links for Protein (Select 20149568) - PMC

Select item 68318511.

Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis

Mohamed Taha Moutaoufik, Ramy Malty, Shahreen Amin, Qingzhou Zhang, Sadhna Phanse, Alla Gagarinova, Mara Zilocchi, Larissa Hoell, Zoran Minic, Maria Gagarinova, Hiroyuki Aoki, Jocelyn Stockwell, Matthew Jessulat, Florian Goebels, Kirsten Broderick, Nichollas E. Scott, James Vlasblom, Gabriel Musso, Bhanu Prasad, Eleonora Lamantea, Barbara Garavaglia, Alex Rajput, Kei Murayama, Yasushi Okazaki, Leonard J. Foster, Gary D. Bader, Francisco S. Cayabyab, Mohan Babu

iScience. 2019 Sep 27; 19: 1114–1132. Published online 2019 Sep 4. doi: 10.1016/j.isci.2019.08.057

PMCID:: PMC6831851

Abstract Article PDF–9.8M

Select item 61890762.

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Anshika Srivastava, Kinshuk Raj Srivastava, Malavika Hebbar, Chelna Galada, Rajagopal Kadavigrere, Fengyun Su, Xuhong Cao, Arul M. Chinnaiyan, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas

Eur J Hum Genet. 2018 Nov; 26(11): 1582–1587. Published online 2018 Jul 5. doi: 10.1038/s41431-018-0209-0

PMCID:: PMC6189076

Abstract Article PDF–1.2M

Select item 61666823.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 57735294.

Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency

Guilhian Leipnitz, Al-Walid Mohsen, Anuradha Karunanidhi, Bianca Seminotti, Vera Y. Roginskaya, Desiree M. Markantone, Mateus Grings, Stephanie J. Mihalik, Peter Wipf, Bennett Van Houten, Jerry Vockley

Sci Rep. 2018; 8: 1165. Published online 2018 Jan 18. doi: 10.1038/s41598-018-19543-3

PMCID:: PMC5773529

Abstract Article PDF–2.2M

Select item 46147035.

Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system

Febin Varghese, Erwan Atcheson, Hannah R. Bridges, Judy Hirst

Hum Mol Genet. 2015 Nov 15; 24(22): 6350–6360. Published online 2015 Sep 7. doi: 10.1093/hmg/ddv344

PMCID:: PMC4614703

Abstract Article PDF–1.0M

Select item 68197386.

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders

Mamiko Yamada, Hisato Suzuki, Yuichi Shiraishi, Kenjiro Kosaki

Mol Genet Metab Rep. 2019 Dec; 21: 100531. Published online 2019 Oct 23. doi: 10.1016/j.ymgmr.2019.100531

PMCID:: PMC6819738

Abstract Article PDF–599K

Select item 18663527.

Huntingtin Interacting Proteins Are Genetic Modifiers of Neurodegeneration

Linda S Kaltenbach, Eliana Romero, Robert R Becklin, Rakesh Chettier, Russell Bell, Amit Phansalkar, Andrew Strand, Cameron Torcassi, Justin Savage, Anthony Hurlburt, Guang-Ho Cha, Lubna Ukani, Cindy Lou Chepanoske, Yuejun Zhen, Sudhir Sahasrabudhe, James Olson, Cornelia Kurschner, Lisa M Ellerby, John M Peltier, Juan Botas, Robert E Hughes

PLoS Genet. 2007 May; 3(5): e82. Published online 2007 May 11. doi: 10.1371/journal.pgen.0030082

PMCID:: PMC1866352

Abstract Article PDF–1.2M

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