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Page 1
Development and characterization of a mouse model for Acad9 deficiency.
Sinsheimer A, Mohsen AW, Bloom K, Karunanidhi A, Bharathi S, Wu YL, Schiff M, Wang Y, Goetzman ES, Ghaloul-Gonzalez L, Vockley J. Sinsheimer A, et al. Among authors: schiff m. Mol Genet Metab. 2021 Sep-Oct;134(1-2):156-163. doi: 10.1016/j.ymgme.2021.09.002. Epub 2021 Sep 14. Mol Genet Metab. 2021. PMID: 34556413 Free PMC article.
Therapies in inborn errors of oxidative metabolism.
Schiff M, Bénit P, Jacobs HT, Vockley J, Rustin P. Schiff M, et al. Trends Endocrinol Metab. 2012 Sep;23(9):488-95. doi: 10.1016/j.tem.2012.04.006. Epub 2012 May 25. Trends Endocrinol Metab. 2012. PMID: 22633959 Free PMC article. Review.
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J. Schiff M, et al. Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26. Hum Mol Genet. 2015. PMID: 25721401 Free PMC article.
ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.
Prabhu D, Goldstein AC, El-Khoury R, Rak M, Edmunds L, Rustin P, Vockley J, Schiff M. Prabhu D, et al. Among authors: schiff m. Mol Genet Metab Rep. 2015 Jun 1;3:43-46. doi: 10.1016/j.ymgmr.2015.03.005. Mol Genet Metab Rep. 2015. PMID: 26000237 Free PMC article.
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
Guarani V, Jardel C, Chrétien D, Lombès A, Bénit P, Labasse C, Lacène E, Bourillon A, Imbard A, Benoist JF, Dorboz I, Gilleron M, Goetzman ES, Gaignard P, Slama A, Elmaleh-Bergès M, Romero NB, Rustin P, Ogier de Baulny H, Paulo JA, Harper JW, Schiff M. Guarani V, et al. Among authors: schiff m. Elife. 2016 Sep 13;5:e17163. doi: 10.7554/eLife.17163. Elife. 2016. PMID: 27623147 Free PMC article.
Metabolic pathways at the crossroads of diabetes and inborn errors.
Goetzman ES, Gong Z, Schiff M, Wang Y, Muzumdar RH. Goetzman ES, et al. Among authors: schiff m. J Inherit Metab Dis. 2018 Jan;41(1):5-17. doi: 10.1007/s10545-017-0091-x. Epub 2017 Sep 26. J Inherit Metab Dis. 2018. PMID: 28952033 Free PMC article. Review.
Long-term liver disease in methylmalonic and propionic acidemias.
Imbard A, Garcia Segarra N, Tardieu M, Broué P, Bouchereau J, Pichard S, de Baulny HO, Slama A, Mussini C, Touati G, Danjoux M, Gaignard P, Vogel H, Labarthe F, Schiff M, Benoist JF. Imbard A, et al. Among authors: schiff m. Mol Genet Metab. 2018 Apr;123(4):433-440. doi: 10.1016/j.ymgme.2018.01.009. Epub 2018 Feb 7. Mol Genet Metab. 2018. PMID: 29433791
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Fontaine M, Kim I, Dessein AF, Mention-Mulliez K, Dobbelaere D, Douillard C, Sole G, Schiff M, Jaussaud R, Espil-Taris C, Boutron A, Wuyts W, Acquaviva C, Vianey-Saban C, Roland D, Joncquel-Chevalier Curt M, Vamecq J. Fontaine M, et al. Among authors: schiff m. Mol Genet Metab. 2018 Apr;123(4):441-448. doi: 10.1016/j.ymgme.2018.02.005. Epub 2018 Feb 12. Mol Genet Metab. 2018. PMID: 29478820
706 results