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Items: 31

1.

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A.

Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25.

PMID:
30682224
2.

The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.

Nelson ND, Dodson LM, Escudero L, Sukumar AT, Williams CL, Mihalek I, Baldan A, Baird DM, Bertuch AA.

Mol Cell Biol. 2018 May 29;38(12). pii: e00025-18. doi: 10.1128/MCB.00025-18. Print 2018 Jun 15.

3.

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S, Klausegger A, Lorenzo J, Mihalek I, Rittinger O, Tekin M, Dallman JE, Bodamer OA.

PLoS One. 2017 Dec 11;12(12):e0189324. doi: 10.1371/journal.pone.0189324. eCollection 2017.

4.

Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

Rohanizadegan M, Abdo SM, O'Donnell-Luria A, Mihalek I, Chen P, Sanders M, Leeman K, Cho M, Hung C, Bodamer O.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002147. doi: 10.1101/mcs.a002147. Print 2017 Nov.

5.

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

Koenighofer M, Hung CY, McCauley JL, Dallman J, Back EJ, Mihalek I, Gripp KW, Sol-Church K, Rusconi P, Zhang Z, Shi GX, Andres DA, Bodamer OA.

Clin Genet. 2016 Mar;89(3):359-66. doi: 10.1111/cge.12608. Epub 2015 Jun 4.

6.

Active site coupling in PDE:PKA complexes promotes resetting of mammalian cAMP signaling.

Krishnamurthy S, Moorthy BS, Xin Xiang L, Xin Shan L, Bharatham K, Tulsian NK, Mihalek I, Anand GS.

Biophys J. 2014 Sep 16;107(6):1426-40. doi: 10.1016/j.bpj.2014.07.050.

7.

Cube - an online tool for comparison and contrasting of protein sequences.

Zhang ZH, Khoo AA, Mihalek I.

PLoS One. 2013 Nov 20;8(11):e79480. doi: 10.1371/journal.pone.0079480. eCollection 2013.

8.

ExoLocator--an online view into genetic makeup of vertebrate proteins.

Khoo AA, Ogrizek-Tomas M, Bulovic A, Korpar M, Gürler E, Slijepcevic I, Šikic M, Mihalek I.

Nucleic Acids Res. 2014 Jan;42(Database issue):D879-81. doi: 10.1093/nar/gkt1164. Epub 2013 Nov 23.

9.

TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres.

Ribes-Zamora A, Indiviglio SM, Mihalek I, Williams CL, Bertuch AA.

Cell Rep. 2013 Oct 17;5(1):194-206. doi: 10.1016/j.celrep.2013.08.040. Epub 2013 Oct 3.

10.

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA.

Pediatrics. 2012 Oct;130(4):e1034-9. doi: 10.1542/peds.2011-2711. Epub 2012 Sep 10.

PMID:
22966035
11.

Cube-DB: detection of functional divergence in human protein families.

Zhang ZH, Bharatham K, Chee SM, Mihalek I.

Nucleic Acids Res. 2012 Jan;40(Database issue):D490-4. doi: 10.1093/nar/gkr1129. Epub 2011 Dec 1.

12.

Determinants, discriminants, conserved residues--a heuristic approach to detection of functional divergence in protein families.

Bharatham K, Zhang ZH, Mihalek I.

PLoS One. 2011;6(9):e24382. doi: 10.1371/journal.pone.0024382. Epub 2011 Sep 12.

13.

WLS-dependent secretion of WNT3A requires Ser209 acylation and vacuolar acidification.

Coombs GS, Yu J, Canning CA, Veltri CA, Covey TM, Cheong JK, Utomo V, Banerjee N, Zhang ZH, Jadulco RC, Concepcion GP, Bugni TS, Harper MK, Mihalek I, Jones CM, Ireland CM, Virshup DM.

J Cell Sci. 2010 Oct 1;123(Pt 19):3357-67. doi: 10.1242/jcs.072132. Epub 2010 Sep 7.

14.

deconSTRUCT: general purpose protein database search on the substructure level.

Zhang ZH, Bharatham K, Sherman WA, Mihalek I.

Nucleic Acids Res. 2010 Jul;38(Web Server issue):W590-4. doi: 10.1093/nar/gkq489. Epub 2010 Jun 3.

15.

Reduced representation of protein structure: implications on efficiency and scope of detection of structural similarity.

Zhang ZH, Lee HK, Mihalek I.

BMC Bioinformatics. 2010 Mar 26;11:155. doi: 10.1186/1471-2105-11-155.

16.

Helix straightening as an activation mechanism in the gelsolin superfamily of actin regulatory proteins.

Wang H, Chumnarnsilpa S, Loonchanta A, Li Q, Kuan YM, Robine S, Larsson M, Mihalek I, Burtnick LD, Robinson RC.

J Biol Chem. 2009 Aug 7;284(32):21265-9. doi: 10.1074/jbc.M109.019760. Epub 2009 Jun 1.

17.

pFlexAna: detecting conformational changes in remotely related proteins.

Nigham A, Tucker-Kellogg L, Mihalek I, Verma C, Hsu D.

Nucleic Acids Res. 2008 Jul 1;36(Web Server issue):W246-51. doi: 10.1093/nar/gkn259. Epub 2008 May 13.

18.

Background frequencies for residue variability estimates: BLOSUM revisited.

Mihalek I, Res I, Lichtarge O.

BMC Bioinformatics. 2007 Dec 27;8:488.

19.

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.

Item CB, Mihalek I, Lichtarge O, Jalan A, Vodopiutz J, Muhl A, Bodamer OA.

Mol Genet Metab. 2007 Aug;91(4):379-83. Epub 2007 Jun 7.

PMID:
17560158
20.

On itinerant water molecules and detectability of protein-protein interfaces through comparative analysis of homologues.

Mihalek I, Res I, Lichtarge O.

J Mol Biol. 2007 Jun 1;369(2):584-95. Epub 2007 Mar 24.

PMID:
17434530
21.

Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions.

Ribes-Zamora A, Mihalek I, Lichtarge O, Bertuch AA.

Nat Struct Mol Biol. 2007 Apr;14(4):301-7. Epub 2007 Mar 11.

PMID:
17351632
22.
23.

Evolutionary trace report_maker: a new type of service for comparative analysis of proteins.

Mihalek I, Res I, Lichtarge O.

Bioinformatics. 2006 Jul 1;22(13):1656-7. Epub 2006 Apr 27.

PMID:
16644792
25.

Evolutionary and structural feedback on selection of sequences for comparative analysis of proteins.

Mihalek I, Res I, Lichtarge O.

Proteins. 2006 Apr 1;63(1):87-99.

PMID:
16397893
26.

A structure and evolution-guided Monte Carlo sequence selection strategy for multiple alignment-based analysis of proteins.

Mihalek I, Res I, Lichtarge O.

Bioinformatics. 2006 Jan 15;22(2):149-56. Epub 2005 Nov 22.

PMID:
16303797
27.

An evolution based classifier for prediction of protein interfaces without using protein structures.

Res I, Mihalek I, Lichtarge O.

Bioinformatics. 2005 May 15;21(10):2496-501. Epub 2005 Feb 22.

PMID:
15728113
28.

A family of evolution-entropy hybrid methods for ranking protein residues by importance.

Mihalek I, Res I, Lichtarge O.

J Mol Biol. 2004 Mar 5;336(5):1265-82.

PMID:
15037084
29.

Accurate and scalable identification of functional sites by evolutionary tracing.

Lichtarge O, Yao H, Kristensen DM, Madabushi S, Mihalek I.

J Struct Funct Genomics. 2003;4(2-3):159-66. Review.

PMID:
14649300
30.

Combining inference from evolution and geometric probability in protein structure evaluation.

Mihalek I, Res I, Yao H, Lichtarge O.

J Mol Biol. 2003 Aug 1;331(1):263-79.

PMID:
12875851
31.

An accurate, sensitive, and scalable method to identify functional sites in protein structures.

Yao H, Kristensen DM, Mihalek I, Sowa ME, Shaw C, Kimmel M, Kavraki L, Lichtarge O.

J Mol Biol. 2003 Feb 7;326(1):255-61.

PMID:
12547207

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