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Page 1
The malate-aspartate shuttle is important for de novo serine biosynthesis.
Broeks MH, Meijer NWF, Westland D, Bosma M, Gerrits J, German HM, Ciapaite J, van Karnebeek CDM, Wanders RJA, Zwartkruis FJT, Verhoeven-Duif NM, Jans JJM. Broeks MH, et al. Among authors: ciapaite j. Cell Rep. 2023 Sep 26;42(9):113043. doi: 10.1016/j.celrep.2023.113043. Epub 2023 Aug 30. Cell Rep. 2023. PMID: 37647199 Free article.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA. van Karnebeek CDM, et al. Among authors: ciapaite j. Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15. Am J Hum Genet. 2019. PMID: 31422819 Free PMC article.
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.
Ciapaite J, Albersen M, Savelberg SMC, Bosma M, Tessadori F, Gerrits J, Lansu N, Zwakenberg S, Bakkers JPW, Zwartkruis FJT, van Haaften G, Jans JJ, Verhoeven-Duif NM. Ciapaite J, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165607. doi: 10.1016/j.bbadis.2019.165607. Epub 2019 Nov 21. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31759955 Free article.
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: ciapaite j. Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346. Brain. 2019. PMID: 30668673 Free PMC article.
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Al-Shekaili HH, Petkau TL, Pena I, Lengyell TC, Verhoeven-Duif NM, Ciapaite J, Bosma M, van Faassen M, Kema IP, Horvath G, Ross C, Simpson EM, Friedman JM, van Karnebeek C, Leavitt BR. Al-Shekaili HH, et al. Among authors: ciapaite j. Hum Mol Genet. 2020 Nov 25;29(19):3266-3284. doi: 10.1093/hmg/ddaa202. Hum Mol Genet. 2020. PMID: 32969477 Free PMC article.
Malnutrition-associated liver steatosis and ATP depletion is caused by peroxisomal and mitochondrial dysfunction.
van Zutphen T, Ciapaite J, Bloks VW, Ackereley C, Gerding A, Jurdzinski A, de Moraes RA, Zhang L, Wolters JC, Bischoff R, Wanders RJ, Houten SM, Bronte-Tinkew D, Shatseva T, Lewis GF, Groen AK, Reijngoud DJ, Bakker BM, Jonker JW, Kim PK, Bandsma RH. van Zutphen T, et al. Among authors: ciapaite j. J Hepatol. 2016 Dec;65(6):1198-1208. doi: 10.1016/j.jhep.2016.05.046. Epub 2016 Jun 14. J Hepatol. 2016. PMID: 27312946 Free article.
Increased cardiac fatty acid oxidation in a mouse model with decreased malonyl-CoA sensitivity of CPT1B.
van Weeghel M, Abdurrachim D, Nederlof R, Argmann CA, Houtkooper RH, Hagen J, Nabben M, Denis S, Ciapaite J, Kolwicz SC Jr, Lopaschuk GD, Auwerx J, Nicolay K, Des Rosiers C, Wanders RJ, Zuurbier CJ, Prompers JJ, Houten SM. van Weeghel M, et al. Among authors: ciapaite j. Cardiovasc Res. 2018 Aug 1;114(10):1324-1334. doi: 10.1093/cvr/cvy089. Cardiovasc Res. 2018. PMID: 29635338
37 results