UBE2A Publication List
Below is a list with all the scientific articles about UBE2A Deficiency Syndrome published to date. The link on the name of the articles will redirect you to the abstract (pubmed). The full text link is below all of them, however for some of the publications access is not open unless you purchase the article. If you are interested in reading them - I do personally have (6/10) of publications available via PDF.
A very special "thank you" to Rafaella Nascimento for helping me organize this information so that anyone else searching for answers on UBE2A can find it all in one place. Thank you for giving my family a name to call what was/is happening to our son. Much love.
A very special "thank you" to Rafaella Nascimento for helping me organize this information so that anyone else searching for answers on UBE2A can find it all in one place. Thank you for giving my family a name to call what was/is happening to our son. Much love.
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM.
Am J Hum Genet. 2006 Sep;79(3):549-55. Epub 2006 Jul 3.
Full text link: http://ac.els-cdn.com/S0002929707627542/1-s2.0-S0002929707627542-main.pdf?_tid=1c1d6d54-4d20-11e6-b7f7-00000aacb362&acdnat=1468871278_917972e472c20466228131de7b7778f1
Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
Honda S, Orii KO, Kobayashi J, Hayashi S, Imamura A, Imoto I, Nakagawa E, Goto Y, Inazawa J.
J Hum Genet. 2010 Apr;55(4):244-7. doi: 10.1038/jhg.2010.14. Epub 2010 Mar 26.
Full text lync: http://www.nature.com/jhg/journal/v55/n4/pdf/jhg201014a.pdf
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH.
Clin Genet. 2010 Jun;77(6):541-51. doi: 10.1111/j.1399-0004.2010.01429.x. Epub 2010 Apr 19.
PMID: 20412111
Full text link: http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01429.x/abstract;jsessionid=D4A40F6B91BFE403822D21820D1BE182.f04t01
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP.
Am J Med Genet A. 2010 Dec;152A(12):3084-90. doi: 10.1002/ajmg.a.33743.
Full text link: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33743/abstract
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
Haddad DM, Vilain S, Vos M, Esposito G, Matta S, Kalscheuer VM, Craessaerts K, Leyssen M, Nascimento RM, Vianna-Morgante AM, De Strooper B, Van Esch H, Morais VA, Verstreken P.
Mol Cell. 2013 Jun 27;50(6):831-43. doi: 10.1016/j.molcel.2013.04.012. Epub 2013 May 16.
Full text link: http://ac.els-cdn.com/S1097276513002931/1-s2.0-S1097276513002931-main.pdf?_tid=ac570f6e-4d21-11e6-beca-00000aacb360&acdnat=1468871950_5d037e2daa2b39c20430b628d8816bac
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, Koehler U, López-González V, Lüdecke HJ, Male A, Morrogh D, Rieß A, Tzschach A, Wieczorek D, Kuechler A.
Orphanet J Rare Dis. 2013 Sep 21;8:146. doi: 10.1186/1750-1172-8-146
Full text link: http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-146
UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
Thunstrom S, Sodermark L, Ivarsson L, Samuelsson L, Stefanova M.
Am J Med Genet A. 2015 Jan;167A(1):204-10. doi: 10.1002/ajmg.a.36800. Epub 2014 Oct 6.
Full text link: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36800/abstract
Next-generation sequencing in X-linked intellectual disability.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P.
Eur J Hum Genet. 2015 Nov;23(11):1513-8. doi: 10.1038/ejhg.2015.5. Epub 2015 Feb 4.
Full text link: http://www.nature.com/ejhg/journal/v23/n11/full/ejhg20155a.html
A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation.
Jin Z, Yu L, Geng J, Wang J, Jin X, Huang H.
Gene. 2015 Aug 1;567(1):98-102. doi: 10.1016/j.gene.2015.04.083. Epub 2015 May 6.
Full text link: http://www.sciencedirect.com/science/article/pii/S0378111915005405
An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.
Bruinsma CF, Savelberg SM, Kool MJ, Jolfaei MA, Van Woerden GM, Baarends WM, Elgersma Y.
Hum Mol Genet. 2016 Jan 1;25(1):1-8. doi: 10.1093/hmg/ddv436. Epub 2015 Oct 16.
Full text link: http://hmg.oxfordjournals.org/content/25/1/1.full.pdf+html
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline.
Giugliano T, Santoro C, Torella A, et al.
Am J Med Genet Part A. 2018; 176A:722-726
Full Text Link: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38589
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
Tsurusaky Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J,, Aida N, Kurosawa K
Hum Genome Var. 2017 Jun 8;4:17019. doi: 10.1038/hgv.2017.19. eCollection 2017.
Full text link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462939/
Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM.
Am J Hum Genet. 2006 Sep;79(3):549-55. Epub 2006 Jul 3.
Full text link: http://ac.els-cdn.com/S0002929707627542/1-s2.0-S0002929707627542-main.pdf?_tid=1c1d6d54-4d20-11e6-b7f7-00000aacb362&acdnat=1468871278_917972e472c20466228131de7b7778f1
Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
Honda S, Orii KO, Kobayashi J, Hayashi S, Imamura A, Imoto I, Nakagawa E, Goto Y, Inazawa J.
J Hum Genet. 2010 Apr;55(4):244-7. doi: 10.1038/jhg.2010.14. Epub 2010 Mar 26.
Full text lync: http://www.nature.com/jhg/journal/v55/n4/pdf/jhg201014a.pdf
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH.
Clin Genet. 2010 Jun;77(6):541-51. doi: 10.1111/j.1399-0004.2010.01429.x. Epub 2010 Apr 19.
PMID: 20412111
Full text link: http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01429.x/abstract;jsessionid=D4A40F6B91BFE403822D21820D1BE182.f04t01
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP.
Am J Med Genet A. 2010 Dec;152A(12):3084-90. doi: 10.1002/ajmg.a.33743.
Full text link: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33743/abstract
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
Haddad DM, Vilain S, Vos M, Esposito G, Matta S, Kalscheuer VM, Craessaerts K, Leyssen M, Nascimento RM, Vianna-Morgante AM, De Strooper B, Van Esch H, Morais VA, Verstreken P.
Mol Cell. 2013 Jun 27;50(6):831-43. doi: 10.1016/j.molcel.2013.04.012. Epub 2013 May 16.
Full text link: http://ac.els-cdn.com/S1097276513002931/1-s2.0-S1097276513002931-main.pdf?_tid=ac570f6e-4d21-11e6-beca-00000aacb360&acdnat=1468871950_5d037e2daa2b39c20430b628d8816bac
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, Koehler U, López-González V, Lüdecke HJ, Male A, Morrogh D, Rieß A, Tzschach A, Wieczorek D, Kuechler A.
Orphanet J Rare Dis. 2013 Sep 21;8:146. doi: 10.1186/1750-1172-8-146
Full text link: http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-146
UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
Thunstrom S, Sodermark L, Ivarsson L, Samuelsson L, Stefanova M.
Am J Med Genet A. 2015 Jan;167A(1):204-10. doi: 10.1002/ajmg.a.36800. Epub 2014 Oct 6.
Full text link: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36800/abstract
Next-generation sequencing in X-linked intellectual disability.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P.
Eur J Hum Genet. 2015 Nov;23(11):1513-8. doi: 10.1038/ejhg.2015.5. Epub 2015 Feb 4.
Full text link: http://www.nature.com/ejhg/journal/v23/n11/full/ejhg20155a.html
A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation.
Jin Z, Yu L, Geng J, Wang J, Jin X, Huang H.
Gene. 2015 Aug 1;567(1):98-102. doi: 10.1016/j.gene.2015.04.083. Epub 2015 May 6.
Full text link: http://www.sciencedirect.com/science/article/pii/S0378111915005405
An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.
Bruinsma CF, Savelberg SM, Kool MJ, Jolfaei MA, Van Woerden GM, Baarends WM, Elgersma Y.
Hum Mol Genet. 2016 Jan 1;25(1):1-8. doi: 10.1093/hmg/ddv436. Epub 2015 Oct 16.
Full text link: http://hmg.oxfordjournals.org/content/25/1/1.full.pdf+html
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline.
Giugliano T, Santoro C, Torella A, et al.
Am J Med Genet Part A. 2018; 176A:722-726
Full Text Link: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38589
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
Tsurusaky Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J,, Aida N, Kurosawa K
Hum Genome Var. 2017 Jun 8;4:17019. doi: 10.1038/hgv.2017.19. eCollection 2017.
Full text link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462939/