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Items: 1 to 20 of 93

1.

Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG.

Am J Hum Genet. 2010 Mar 12;86(3):447-53. doi: 10.1016/j.ajhg.2010.01.028. Epub 2010 Feb 18.

2.

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.

Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB.

Hum Genet. 2014 Aug;133(8):975-84. doi: 10.1007/s00439-014-1438-0. Epub 2014 Mar 13.

PMID:
24623383
3.

The Nedd4-like ubiquitin E3 ligases target angiomotin/p130 to ubiquitin-dependent degradation.

Wang C, An J, Zhang P, Xu C, Gao K, Wu D, Wang D, Yu H, Liu JO, Yu L.

Biochem J. 2012 Jun 1;444(2):279-89. doi: 10.1042/BJ20111983.

PMID:
22385262
4.

Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.

Sobhani M, Tabatabaiefar MA, Rajab A, Kajbafzadeh AM, Noori-Daloii MR.

Gene. 2013 Oct 10;528(2):309-13. doi: 10.1016/j.gene.2013.06.040. Epub 2013 Jul 8.

PMID:
23845777
5.

Female mice with loss-of-function ITCH display an altered reproductive phenotype.

Stermer AR, Myers JL, Murphy CJ, Di Bona KR, Matesic L, Richburg JH.

Exp Biol Med (Maywood). 2016 Feb;241(4):367-74. doi: 10.1177/1535370215610656. Epub 2015 Oct 28.

6.

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H.

Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. doi: 10.1073/pnas.0908457107. Epub 2009 Dec 14.

7.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G.

Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29.

8.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH.

Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011.

9.

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A.

Nat Genet. 2005 Dec;37(12):1345-50. Epub 2005 Nov 20. Erratum in: Nat Genet. 2006 Feb;38(2):265. Ekici, Arif B [added].

PMID:
16311597
10.

Itch E3 ubiquitin ligase positively regulates TGF-β signaling to EMT via Smad7 ubiquitination.

Park SH, Jung EH, Kim GY, Kim BC, Lim JH, Woo CH.

Mol Cells. 2015 Jan 31;38(1):20-5. doi: 10.14348/molcells.2015.2120. Epub 2014 Dec 16.

11.

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.

Al-Hassnan ZN, Shinwari ZM, Wakil SM, Tulbah S, Mohammed S, Rahbeeni Z, Alghamdi M, Rababh M, Colak D, Kaya N, Al-Fayyadh M, Alburaiki J.

BMC Med Genet. 2016 Jan 14;17:3. doi: 10.1186/s12881-016-0267-5.

12.

Itch genetically interacts with Notch1 in a mouse autoimmune disease model.

Matesic LE, Haines DC, Copeland NG, Jenkins NA.

Hum Mol Genet. 2006 Dec 15;15(24):3485-97. Epub 2006 Nov 9.

PMID:
17095521
13.

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT.

J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30.

14.

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G.

J Med Genet. 2013 Aug;50(8):493-9. doi: 10.1136/jmedgenet-2012-101405. Epub 2013 May 17.

15.

Itch E3 ubiquitin ligase regulates large tumor suppressor 1 stability [corrected].

Ho KC, Zhou Z, She YM, Chun A, Cyr TD, Yang X.

Proc Natl Acad Sci U S A. 2011 Mar 22;108(12):4870-5. doi: 10.1073/pnas.1101273108. Epub 2011 Mar 7. Erratum in: Proc Natl Acad Sci U S A. 2016 Sep 27;113(39):E5776. Proc Natl Acad Sci U S A.2011 May 3;108(18):8914.

16.

The E3 ubiquitin ligase Itch and Yap1 have antagonistic roles in the regulation of ASPP2 protein stability.

Gao K, An J, Zhang Y, Jin X, Ma J, Peng J, Tang Y, Yu L, Zhang P, Wang C.

FEBS Lett. 2015 Jan 2;589(1):94-101. doi: 10.1016/j.febslet.2014.11.030. Epub 2014 Nov 29.

17.

The E3 ligase Itch in immune regulation and beyond.

Aki D, Zhang W, Liu YC.

Immunol Rev. 2015 Jul;266(1):6-26. doi: 10.1111/imr.12301. Review.

PMID:
26085204
18.

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.

Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K.

Am J Hum Genet. 2002 Mar;70(3):663-72. Epub 2002 Jan 29.

19.

ATM kinase activity modulates ITCH E3-ubiquitin ligase activity.

Santini S, Stagni V, Giambruno R, Fianco G, Di Benedetto A, Mottolese M, Pellegrini M, Barilà D.

Oncogene. 2014 Feb 27;33(9):1113-23. doi: 10.1038/onc.2013.52. Epub 2013 Feb 25.

20.

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC.

Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6287-92. Epub 2006 Apr 10.

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