PMC Links for Protein (Select 268370295) - PMC

Select item 65051241.

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu

BMC Med Genet. 2019; 20: 77. Published online 2019 May 7. doi: 10.1186/s12881-019-0798-7

PMCID:: PMC6505124

Abstract Article PDF–902K

Select item 62476982.

A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family

Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong, Ning Li

BMC Med Genet. 2018; 19: 202. Published online 2018 Nov 20. doi: 10.1186/s12881-018-0689-3

PMCID:: PMC6247698

Abstract Article PDF–1.7M

Select item 58734383.

Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, Bryn D. Webb, Robert McFarland, Zofia M.A. Chrzanowska‐Lightowlers, Langping He, Ewa Skorupa, Isabella Moroni, Anna Ardissone, Anna Walczak, Henna Tyynismaa, Pirjo Isohanni, Hanna Mandel, Holger Prokisch, Tobias Haack, Penelope E. Bonnen, Bertini Enrico, Ewa Pronicka, Daniele Ghezzi, Robert W. Taylor, Daria Diodato

Hum Mutat. 2018 Apr; 39(4): 563–578. Published online 2018 Feb 7. doi: 10.1002/humu.23398

PMCID:: PMC5873438

Abstract Article PDF–2.1M

Select item 56868204.

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F. Meyer, Stefan T. Arold, Dorota Monies

Hum Genomics. 2017; 11: 28. Published online 2017 Nov 14. doi: 10.1186/s40246-017-0124-4

Correction in:: Hum Genomics. 2017; 11: 33.

PMCID:: PMC5686820

Abstract Article PDF–3.4M

Select item 41405495.

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Daria Diodato, Laura Melchionda, Tobias B Haack, Cristina Dallabona, Enrico Baruffini, Claudia Donnini, Tiziana Granata, Francesca Ragona, Paolo Balestri, Maria Margollicci, Eleonora Lamantea, Alessia Nasca, Christopher A Powell, Michal Minczuk, Tim M Strom, Thomas Meitinger, Holger Prokisch, Costanza Lamperti, Massimo Zeviani, Daniele Ghezzi

Hum Mutat. 2014 Aug; 35(8): 983–989. Published online 2014 May 14. doi: 10.1002/humu.22590

PMCID:: PMC4140549

Abstract Article PDF–522K

Select item 31414316.

Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving

Rachele Cagliani, Stefania Riva, Uberto Pozzoli, Matteo Fumagalli, Giacomo P Comi, Nereo Bresolin, Mario Clerici, Manuela Sironi

BMC Evol Biol. 2011; 11: 171. Published online 2011 Jun 17. doi: 10.1186/1471-2148-11-171

PMCID:: PMC3141431

Abstract Article PDF–851K

Select item 23964257.

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNA^Val carrying the pathogenic C25U mutation

Joanna Rorbach, Abdul Aziz Yusoff, Helen Tuppen, Dyg P. Abg-Kamaludin, Zofia M.A. Chrzanowska-Lightowlers, Robert W. Taylor, Douglass M. Turnbull, Robert McFarland, Robert N. Lightowlers

Nucleic Acids Res. 2008 May; 36(9): 3065–3074. Published online 2008 Apr 8. doi: 10.1093/nar/gkn147

PMCID:: PMC2396425

Abstract Article PDF–1.2M

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