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Items: 14

1.

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.

Ratnasamy V, Navaneethakrishnan S, Sirisena ND, Grüning NM, Brandau O, Thirunavukarasu K, Dagnall CL, McReynolds LJ, Savage SA, Dissanayake VHW.

BMC Med Genet. 2018 May 25;19(1):85. doi: 10.1186/s12881-018-0584-y.

2.

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P.

Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15.

PMID:
29449720
3.

The return of metabolism: biochemistry and physiology of the pentose phosphate pathway.

Stincone A, Prigione A, Cramer T, Wamelink MM, Campbell K, Cheung E, Olin-Sandoval V, Grüning NM, Krüger A, Tauqeer Alam M, Keller MA, Breitenbach M, Brindle KM, Rabinowitz JD, Ralser M.

Biol Rev Camb Philos Soc. 2015 Aug;90(3):927-63. doi: 10.1111/brv.12140. Epub 2014 Sep 22. Review.

4.

A synthetic sandalwood odorant induces wound-healing processes in human keratinocytes via the olfactory receptor OR2AT4.

Busse D, Kudella P, Grüning NM, Gisselmann G, Ständer S, Luger T, Jacobsen F, Steinsträßer L, Paus R, Gkogkolou P, Böhm M, Hatt H, Benecke H.

J Invest Dermatol. 2014 Nov;134(11):2823-2832. doi: 10.1038/jid.2014.273. Epub 2014 Jul 7.

5.

Inhibition of triosephosphate isomerase by phosphoenolpyruvate in the feedback-regulation of glycolysis.

Grüning NM, Du D, Keller MA, Luisi BF, Ralser M.

Open Biol. 2014 Mar 5;4:130232. doi: 10.1098/rsob.130232.

6.

Warburg effect and translocation-induced genomic instability: two yeast models for cancer cells.

Tosato V, Grüning NM, Breitenbach M, Arnak R, Ralser M, Bruschi CV.

Front Oncol. 2013 Jan 18;2:212. doi: 10.3389/fonc.2012.00212. eCollection 2012.

7.

Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis.

Bluemlein K, Glückmann M, Grüning NM, Feichtinger R, Krüger A, Wamelink M, Lehrach H, Tate S, Neureiter D, Kofler B, Ralser M.

Oncotarget. 2012 Nov;3(11):1356-69.

8.

Cancer: Sacrifice for survival.

Grüning NM, Ralser M.

Nature. 2011 Dec 7;480(7376):190-1. doi: 10.1038/480190a. No abstract available.

PMID:
22158241
9.

Pyruvate kinase triggers a metabolic feedback loop that controls redox metabolism in respiring cells.

Grüning NM, Rinnerthaler M, Bluemlein K, Mülleder M, Wamelink MM, Lehrach H, Jakobs C, Breitenbach M, Ralser M.

Cell Metab. 2011 Sep 7;14(3):415-27. doi: 10.1016/j.cmet.2011.06.017.

10.

No evidence for a shift in pyruvate kinase PKM1 to PKM2 expression during tumorigenesis.

Bluemlein K, Grüning NM, Feichtinger RG, Lehrach H, Kofler B, Ralser M.

Oncotarget. 2011 May;2(5):393-400.

11.

The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response.

Krüger A, Grüning NM, Wamelink MM, Kerick M, Kirpy A, Parkhomchuk D, Bluemlein K, Schweiger MR, Soldatov A, Lehrach H, Jakobs C, Ralser M.

Antioxid Redox Signal. 2011 Jul 15;15(2):311-24. doi: 10.1089/ars.2010.3797. Epub 2011 May 19.

PMID:
21348809
12.

The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.

Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M.

J Mol Med (Berl). 2010 Sep;88(9):931-9. doi: 10.1007/s00109-010-0634-1. Epub 2010 May 25.

PMID:
20499043
13.

Regulatory crosstalk of the metabolic network.

Grüning NM, Lehrach H, Ralser M.

Trends Biochem Sci. 2010 Apr;35(4):220-7. doi: 10.1016/j.tibs.2009.12.001. Epub 2010 Jan 7. Review.

PMID:
20060301
14.

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