PMC Links for Protein (Select 150416122) - PMC

Select item 67523071.

Autozygome and high throughput confirmation of disease genes candidacy

Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al-Owain, Mohammad A. Al Muhaizea, Husam R. Kayyali, Amal AlHashem, Zuhair Rahbeeni, Maha Al-Otaibi, Hamad I. Alzaidan, Ameera Balobaid, Heba Y. El Khashab, Dalal K. Bubshait, Maha Faden, Suad Al Yamani, Omar Dabbagh, Mariam Al-Mureikhi, Abdulla Al Jasser, Hessa S. Alsaif, Iram Alluhaydan, Mohammed Zain Seidahmed, Bashair Hamza Alabbasi, Ibrahim Almogarri, Wesam Kurdi, Hana Akleh, Alya Qari, Saeed M. Al Tala, Suzan Alhomaidi, Amal Y. Kentab, Mustafa A. Salih, Aziza Chedrawi, Seham Alameer, Brahim Tabarki, Hanan E. Shamseldin, Nisha Patel, Niema Ibrahim, Firdous Abdulwahab, Menasria Samira, Ewa Goljan, Mohamed Abouelhoda, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Saad AlShahwan, Majid Alfadhel, Tawfeg Ben-Omran, Mohammad M. Al-Qattan, Dorota Monies, Fowzan S. Alkuraya

Genet Med. 2019; 21(3): 736–742. Published online 2018 Sep 21. doi: 10.1038/s41436-018-0138-x

PMCID:: PMC6752307

Article PDF–1.6M

Select item 63230192.

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

Arcangela Iuso, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarzmayr, Elisabeth Graf, Caterina Terrile, Holger Prokisch, Tim M. Strom, Georg F. Hoffmann, Thomas Meitinger, Tobias B. Haack

JIMD Rep. 2019; 44: 1–7. Published online 2018 Jun 20. doi: 10.1007/8904_2018_115

PMCID:: PMC6323019

Article PDF–463K

Select item 49001403.

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

Hanan E. Shamseldin, Laura L. Smith, Amal Kentab, Hisham Alkhalidi, Brady Summers, Haifa Alsedairy, Yong Xiong, Vandana A. Gupta, Fowzan S. Alkuraya

Hum Genet. Author manuscript; available in PMC 2016 Jun 9.

Published in final edited form as: Hum Genet. 2016 Jan; 135(1): 21–30. Published online 2015 Nov 5. doi: 10.1007/s00439-015-1608-8

PMCID:: PMC4900140

Article PDF–2.0M

Select item 27093814.

A Novel Member of Solute Carrier Family 25 (SLC25A42) Is a Transporter of Coenzyme A and Adenosine 3′,5′-Diphosphate in Human Mitochondria

Giuseppe Fiermonte, Eleonora Paradies, Simona Todisco, Carlo M. T. Marobbio, Ferdinando Palmieri

J Biol Chem. 2009 Jul 3; 284(27): 18152–18159. Published online 2009 May 8. doi: 10.1074/jbc.M109.014118

PMCID:: PMC2709381

Article PDF–1.0M

Select item 5289285.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Article PDF–140K

Select item 58518886.

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics‐based analysis in the McArdle mouse model

Carmen Fiuza‐Luces, Alejandro Santos‐Lozano, Francisco Llavero, Rocío Campo, Gisela Nogales‐Gadea, Jorge Díez‐Bermejo, Carlos Baladrón, África González‐Murillo, Joaquín Arenas, Miguel A. Martín, Antoni L. Andreu, Tomàs Pinós, Beatriz G. Gálvez, Juan A. López, Jesús Vázquez, José L. Zugaza, Alejandro Lucia

J Physiol. 2018 Mar 15; 596(6): 1035–1061. Published online 2018 Feb 14. doi: 10.1113/JP275292

PMCID:: PMC5851888

Article PDF–2.2M

Select item 46056107.

Characterization of the Cardiac Overexpression of HSPB2 Reveals Mitochondrial and Myogenic Roles Supported by a Cardiac HspB2 Interactome

Julianne H. Grose, Kelsey Langston, Xiaohui Wang, Shayne Squires, Soumyajit Banerjee Mustafi, Whitney Hayes, Jonathan Neubert, Susan K. Fischer, Matthew Fasano, Gina Moore Saunders, Qiang Dai, Elisabeth Christians, E. Douglas Lewandowski, Peipei Ping, Ivor J. Benjamin

PLoS One. 2015; 10(10): e0133994. Published online 2015 Oct 14. doi: 10.1371/journal.pone.0133994

PMCID:: PMC4605610

Article PDF–6.8M

Select item 38922928.

The Concise Guide to Pharmacology 2013/14: Transporters

Stephen PH Alexander, Helen E Benson, Elena Faccenda, Adam J Pawson, Joanna L Sharman, Michael Spedding, John A Peters, Anthony J Harmar

Br J Pharmacol. 2013 Dec; 170(8): 1706–1796. Published online 2013 Dec 17. doi: 10.1111/bph.12450

PMCID:: PMC3892292

Article PDF–1.6M

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