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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium; Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM. Johnstone DL, et al. Among authors: violante s. Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346. Brain. 2019. PMID: 30668673 Free PMC article.
Germline deletion of Krüppel-like factor 14 does not increase risk of diet induced metabolic syndrome in male C57BL/6 mice.
Argmann CA, Violante S, Dodatko T, Amaro MP, Hagen J, Gillespie VL, Buettner C, Schadt EE, Houten SM. Argmann CA, et al. Among authors: violante s. Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3277-3285. doi: 10.1016/j.bbadis.2017.09.021. Epub 2017 Sep 28. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28962896 Free PMC article.
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. Violante S, et al. FASEB J. 2019 Mar;33(3):4355-4364. doi: 10.1096/fj.201801498R. Epub 2018 Dec 12. FASEB J. 2019. PMID: 30540494 Free PMC article.
We summarize that peroxisomal FAO is important when mitochondrial FAO is defective or overloaded.-Violante, S., Achetib, N., van Roermund, C. W. T., Hagen, J., Dodatko, T., Vaz, F. M., Waterham, H. R., Chen, H., Baes, M., Yu, C., Argmann, C. A., Houten, S. M. …
We summarize that peroxisomal FAO is important when mitochondrial FAO is defective or overloaded.-Violante, S., Achetib, N., v …
Mild inborn errors of metabolism in commonly used inbred mouse strains.
Leandro J, Violante S, Argmann CA, Hagen J, Dodatko T, Bender A, Zhang W, Williams EG, Bachmann AM, Auwerx J, Yu C, Houten SM. Leandro J, et al. Among authors: violante s. Mol Genet Metab. 2019 Apr;126(4):388-396. doi: 10.1016/j.ymgme.2019.01.021. Epub 2019 Jan 24. Mol Genet Metab. 2019. PMID: 30709776 Free PMC article.
Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.
Ranea-Robles P, Violante S, Argmann C, Dodatko T, Bhattacharya D, Chen H, Yu C, Friedman SL, Puchowicz M, Houten SM. Ranea-Robles P, et al. Among authors: violante s. Cell Mol Life Sci. 2021 Jul;78(14):5631-5646. doi: 10.1007/s00018-021-03869-9. Epub 2021 Jun 10. Cell Mol Life Sci. 2021. PMID: 34110423 Free PMC article.
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