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Items: 1 to 20 of 136

1.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.

PMID:
26833332
2.

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.

PMID:
26833330
3.

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, Oortveld MA, Kleefstra T, Kramer JM, Webber C, Huynen MA, Schenck A.

Am J Hum Genet. 2016 Jan 7;98(1):149-64. doi: 10.1016/j.ajhg.2015.11.024.

PMID:
26748517
4.

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Rivière JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C.

Hum Mol Genet. 2015 Dec 7. pii: ddv488. [Epub ahead of print]

PMID:
26643951
5.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Lambacher NJ, Bruel AL, van Dam TJ, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE.

Nat Cell Biol. 2016 Jan;18(1):122-31. doi: 10.1038/ncb3273. Epub 2015 Nov 23.

PMID:
26595381
6.

WeGET: predicting new genes for molecular systems by weighted co-expression.

Szklarczyk R, Megchelenbrink W, Cizek P, Ledent M, Velemans G, Szklarczyk D, Huynen MA.

Nucleic Acids Res. 2016 Jan 4;44(D1):D567-73. doi: 10.1093/nar/gkv1228. Epub 2015 Nov 17.

7.

Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response.

van der Lee R, Feng Q, Langereis MA, Ter Horst R, Szklarczyk R, Netea MG, Andeweg AC, van Kuppeveld FJ, Huynen MA.

PLoS Comput Biol. 2015 Oct 20;11(10):e1004553. doi: 10.1371/journal.pcbi.1004553. eCollection 2015 Oct.

8.

Evolution and structural organization of the mitochondrial contact site (MICOS) complex and the mitochondrial intermembrane space bridging (MIB) complex.

Huynen MA, Mühlmeister M, Gotthardt K, Guerrero-Castillo S, Brandt U.

Biochim Biophys Acta. 2016 Jan;1863(1):91-101. doi: 10.1016/j.bbamcr.2015.10.009. Epub 2015 Oct 23.

9.

Estimating Metabolic Fluxes Using a Maximum Network Flexibility Paradigm.

Megchelenbrink W, Rossell S, Huynen MA, Notebaart RA, Marchiori E.

PLoS One. 2015 Oct 12;10(10):e0139665. doi: 10.1371/journal.pone.0139665. eCollection 2015.

10.

Sequence specificity between interacting and non-interacting homologs identifies interface residues--a homodimer and monomer use case.

Hou Q, Dutilh BE, Huynen MA, Heringa J, Feenstra KA.

BMC Bioinformatics. 2015 Oct 8;16:325. doi: 10.1186/s12859-015-0758-y.

11.

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.

van der Lee R, Szklarczyk R, Smeitink J, Smeets HJ, Huynen MA, Vogel R.

BMC Genomics. 2015 Sep 15;16(1):691. doi: 10.1186/s12864-015-1883-8.

12.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TM, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJ, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJ, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-87. doi: 10.1038/ncb3201. Epub 2015 Jul 13.

13.

The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies.

Slijkerman RW, Song F, Astuti GD, Huynen MA, van Wijk E, Stieger K, Collin RW.

Prog Retin Eye Res. 2015 Sep;48:137-59. doi: 10.1016/j.preteyeres.2015.04.004. Epub 2015 May 1. Review.

PMID:
25936606
14.

Predicting human genetic interactions from cancer genome evolution.

Lu X, Megchelenbrink W, Notebaart RA, Huynen MA.

PLoS One. 2015 May 1;10(5):e0125795. doi: 10.1371/journal.pone.0125795. eCollection 2015.

15.

The RIG-I-like helicase receptor MDA5 (IFIH1) is involved in the host defense against Candida infections.

Jaeger M, van der Lee R, Cheng SC, Johnson MD, Kumar V, Ng A, Plantinga TS, Smeekens SP, Oosting M, Wang X, Barchet W, Fitzgerald K, Joosten LA, Perfect JR, Wijmenga C, van de Veerdonk FL, Huynen MA, Xavier RJ, Kullberg BJ, Netea MG.

Eur J Clin Microbiol Infect Dis. 2015 May;34(5):963-74. doi: 10.1007/s10096-014-2309-2. Epub 2015 Jan 13.

PMID:
25579795
16.

Intrinsically disordered segments affect protein half-life in the cell and during evolution.

van der Lee R, Lang B, Kruse K, Gsponer J, Sánchez de Groot N, Huynen MA, Matouschek A, Fuxreiter M, Babu MM.

Cell Rep. 2014 Sep 25;8(6):1832-44. doi: 10.1016/j.celrep.2014.07.055. Epub 2014 Sep 15.

17.

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA.

Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9.

18.

MPV17L2 is required for ribosome assembly in mitochondria.

Dalla Rosa I, Durigon R, Pearce SF, Rorbach J, Hirst EM, Vidoni S, Reyes A, Brea-Calvo G, Minczuk M, Woellhaf MW, Herrmann JM, Huynen MA, Holt IJ, Spinazzola A.

Nucleic Acids Res. 2014 Jul;42(13):8500-15. doi: 10.1093/nar/gku513. Epub 2014 Jun 19.

19.

The symbiotic intestinal ciliates and the evolution of their hosts.

Moon-van der Staay SY, van der Staay GW, Michalowski T, Jouany JP, Pristas P, Javorský P, Kišidayová S, Varadyova Z, McEwan NR, Newbold CJ, van Alen T, de Graaf R, Schmid M, Huynen MA, Hackstein JH.

Eur J Protistol. 2014 Apr;50(2):166-73. doi: 10.1016/j.ejop.2014.01.004. Epub 2014 Jan 31.

PMID:
24703617
20.

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR.

PLoS Genet. 2013;9(12):e1004034. doi: 10.1371/journal.pgen.1004034. Epub 2013 Dec 26.

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