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Items: 1 to 20 of 172

1.

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.

Berendse K, Boek M, Gijbels M, Van der Wel NN, Klouwer FC, van den Bergh-Weerman MA, Shinde AB, Ofman R, Poll-The BT, Houten SM, Baes M, Wanders RJA, Waterham HR.

Biochim Biophys Acta Mol Basis Dis. 2019 Jun 14. pii: S0925-4439(19)30212-1. doi: 10.1016/j.bbadis.2019.06.013. [Epub ahead of print]

PMID:
31207289
2.

Fluorescent tools to analyse peroxisome-ER interactions in mammalian cells.

Bishop A, Kamoshita M, Passmore JB, Hacker C, Schrader TA, Waterham HR, Costello JL, Schrader M.

Contact (Thousand Oaks). 2019 Jun 5;2. doi: 10.1177/2515256419848641. Epub 2019 May 15.

3.

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR.

Hum Mutat. 2019 Jun 12. doi: 10.1002/humu.23839. [Epub ahead of print]

PMID:
31187905
4.

Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting.

Lismont C, Koster J, Provost S, Baes M, Van Veldhoven PP, Waterham HR, Fransen M.

Biochim Biophys Acta Biomembr. 2019 May 24. pii: S0005-2736(19)30110-5. doi: 10.1016/j.bbamem.2019.05.013. [Epub ahead of print]

PMID:
31129117
5.

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ.

J Inherit Metab Dis. 2019 Apr 23. doi: 10.1002/jimd.12102. [Epub ahead of print]

PMID:
31012112
6.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.

N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.

PMID:
30970188
7.

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells.

Herzog K, IJlst L, van Cruchten AG, van Roermund CWT, Kulik W, Wanders RJA, Waterham HR.

Metabolites. 2019 Mar 5;9(3). pii: E45. doi: 10.3390/metabo9030045.

8.

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

Klouwer FCC, Koot BGP, Berendse K, Kemper EM, Ferdinandusse S, Koelfat KVK, Lenicek M, Vaz FM, Engelen M, Jansen PLM, Wanders RJA, Waterham HR, Schaap FG, Poll-The BT.

J Inherit Metab Dis. 2019 Mar;42(2):303-312. doi: 10.1002/jimd.12042. Epub 2019 Feb 21.

PMID:
30793331
9.

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G.

J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8.

PMID:
30761551
10.

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Bleeker JC, Kok IL, Ferdinandusse S, de Vries M, Derks TGJ, Mulder MF, Williams M, Gozalbo ER, Bosch AM, van den Hurk DT, de Sain-van der Velden MGM, Waterham HR, Wijburg FA, Visser G.

J Inherit Metab Dis. 2019 Jan;42(1):159-168. doi: 10.1002/jimd.12037.

PMID:
30740737
11.

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.

Wanders RJA, Vaz FM, Ferdinandusse S, van Kuilenburg ABP, Kemp S, van Karnebeek CD, Waterham HR, Houtkooper RH.

J Inherit Metab Dis. 2019 Mar;42(2):197-208. doi: 10.1002/jimd.12008. Epub 2019 Feb 5. Review.

PMID:
30723938
12.

Response to "Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A".

Chinopoulos C, Wevers RA, Waterham HR, Zafeiriou D.

Mol Genet Metab Rep. 2018 Dec 13;18:10. doi: 10.1016/j.ymgmr.2018.12.002. eCollection 2019 Mar. No abstract available.

13.

Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.

Violante S, Achetib N, van Roermund CWT, Hagen J, Dodatko T, Vaz FM, Waterham HR, Chen H, Baes M, Yu C, Argmann CA, Houten SM.

FASEB J. 2019 Mar;33(3):4355-4364. doi: 10.1096/fj.201801498R. Epub 2018 Dec 12.

PMID:
30540494
14.

Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.

Chinopoulos C, Batzios S, van den Heuvel LP, Rodenburg R, Smeets R, Waterham HR, Turkenburg M, Ruiter JP, Wanders RJA, Doczi J, Horvath G, Dobolyi A, Vargiami E, Wevers RA, Zafeiriou D.

Mol Genet Metab. 2019 Jan;126(1):43-52. doi: 10.1016/j.ymgme.2018.11.009. Epub 2018 Nov 16.

PMID:
30470562
15.

Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans.

Wanders RJA, Waterham HR, Ferdinandusse S.

Subcell Biochem. 2018;89:345-365. doi: 10.1007/978-981-13-2233-4_15. Review.

PMID:
30378031
16.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J.

Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14.

17.

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact.

Shai N, Yifrach E, van Roermund CWT, Cohen N, Bibi C, IJlst L, Cavellini L, Meurisse J, Schuster R, Zada L, Mari MC, Reggiori FM, Hughes AL, Escobar-Henriques M, Cohen MM, Waterham HR, Wanders RJA, Schuldiner M, Zalckvar E.

Nat Commun. 2018 May 2;9(1):1761. doi: 10.1038/s41467-018-03957-8.

18.

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD.

Am J Med Genet A. 2018 May;176(5):1115-1127. doi: 10.1002/ajmg.a.38658. Epub 2018 Mar 25.

19.

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM.

J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23.

20.

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

Ferdinandusse S, Denis S, van Roermund CWT, Preece MA, Koster J, Ebberink MS, Waterham HR, Wanders RJA.

Biochim Biophys Acta Mol Basis Dis. 2018 Mar;1864(3):952-958. doi: 10.1016/j.bbadis.2017.12.032. Epub 2017 Dec 26.

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