PMC Links for Gene (Select 157074) - PMC

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Items: 13

Select item 42979081.

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

G Herma Renkema, Saskia B Wortmann, Roel J Smeets, Hanka Venselaar, Marion Antoine, Gepke Visser, Tawfeg Ben-Omran, Lambert P van den Heuvel, Henri J L M Timmers, Jan A Smeitink, Richard J T Rodenburg

Eur J Hum Genet. 2015 Feb; 23(2): 202–209. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.80

PMCID:: PMC4297908

Abstract Article PDF–1013K

Select item 24476622.

Transcriptional Regulation of SDHa Flavoprotein by Nuclear Respiratory Factor-1 Prevents Pseudo-hypoxia in Aerobic Cardiac Cells

Claude A. Piantadosi, Hagir B. Suliman

J Biol Chem. 2008 Apr 18; 283(16): 10967–10977. doi: 10.1074/jbc.M709741200

PMCID:: PMC2447662

Abstract Article PDF–597K

Select item 21174013.

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

R Horváth, A Abicht, E Holinski‐Feder, A Laner, K Gempel, H Prokisch, H Lochmüller, T Klopstock, M Jaksch

J Neurol Neurosurg Psychiatry. 2006 Jan; 77(1): 74–76. doi: 10.1136/jnnp.2005.067041

PMCID:: PMC2117401

Abstract Article PDF–147K

Select item 48196904.

Mitochondrial DNA Depletion in Respiratory Chain–Deficient Parkinson Disease Neurons

Anne Grünewald, Karolina A. Rygiel, Philippa D. Hepplewhite, Christopher M. Morris, Martin Picard, Doug M. Turnbull

Ann Neurol. 2016 Mar; 79(3): 366–378. Published online 2016 Jan 28. doi: 10.1002/ana.24571

PMCID:: PMC4819690

Abstract Article PDF–819K

Select item 111391405.

Succinate dehydrogenase deficiency in human

J.-J. Brière, J. Favier, V. El. Ghouzzi, F. Djouadi, P. Bénit, A. -P. Gimenez, P. Rustin

Cell Mol Life Sci. 2005 Oct; 62(19-20): 2317–2324. Published online 2005 Sep 7. doi: 10.1007/s00018-005-5237-6

PMCID:: PMC11139140

Abstract Article PDF–1.0M

Select item 27921556.

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2

Hua Yang, Sonja Brosel, Rebeca Acin-Perez, Vesna Slavkovich, Ichizo Nishino, Raffay Khan, Ira J. Goldberg, Joseph Graziano, Giovanni Manfredi, Eric A. Schon

Hum Mol Genet. 2010 Jan 1; 19(1): 170–180. Published online 2009 Oct 16. doi: 10.1093/hmg/ddp477

PMCID:: PMC2792155

Abstract Article PDF–498K

Select item 60567207.

Assembly of mammalian oxidative phosphorylation complexes I–V and supercomplexes

Alba Signes, Erika Fernandez-Vizarra

Essays Biochem. 2018 Jul 20; 62(3): 255–270. Published online 2018 Jul 20. doi: 10.1042/EBC20170098

PMCID:: PMC6056720

Abstract Article PDF–1.5M

Select item 69700878.

The novel testicular enrichment protein Cfap58 is required for Notch-associated ciliogenesis

Zheng-Zheng Li, Wen-Long Zhao, Gui-Shuan Wang, Ni-Hao Gu, Fei Sun

Biosci Rep. 2020 Jan 31; 40(1): BSR20192666. Published online 2020 Jan 17. doi: 10.1042/BSR20192666

PMCID:: PMC6970087

Abstract Article PDF–2.4M

Select item 31906949.

d-Amino Acid Oxidase Activity Is Inhibited by an Interaction with Bassoon Protein at the Presynaptic Active Zone

Michael Popiolek, John F. Ross, Erik Charych, Pranab Chanda, Eckart D. Gundelfinger, Stephen J. Moss, Nicholas J. Brandon, Mark H. Pausch

J Biol Chem. 2011 Aug 19; 286(33): 28867–28875. Published online 2011 Jun 23. doi: 10.1074/jbc.M111.262063

PMCID:: PMC3190694

Abstract Article PDF–1.0M

Select item 463804510.

Interacting Network of the Gap Junction (GJ) Protein Connexin43 (Cx43) is Modulated by Ischemia and Reperfusion in the Heart

Tania Martins-Marques, Sandra Isabel Anjo, Paulo Pereira, Bruno Manadas, Henrique Girão

Mol Cell Proteomics. 2015 Nov; 14(11): 3040–3055. Published online 2015 Aug 27. doi: 10.1074/mcp.M115.052894

PMCID:: PMC4638045

Abstract Article PDF–2.5M

Select item 267610111.

Proteolipid Protein Is Required for Transport of Sirtuin 2 into CNS Myelin

Hauke B. Werner, Katja Kuhlmann, Siming Shen, Marina Uecker, Anke Schardt, Kalina Dimova, Foteini Orfaniotou, Ajit Dhaunchak, Bastian G. Brinkmann, Wiebke Möbius, Lenny Guarente, Patrizia Casaccia-Bonnefil, Olaf Jahn, Klaus-Armin Nave

J Neurosci. 2007 Jul 18; 27(29): 7717–7730. doi: 10.1523/JNEUROSCI.1254-07.2007

PMCID:: PMC2676101

Abstract Article PDF–613K

Select item 277884412.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016