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Year | Number of Results |
---|---|
2003 | 1 |
2004 | 1 |
2012 | 2 |
2021 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 113612
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Page 1
Implication of folate deficiency in CYP2U1 loss of function.
J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21.
J Exp Med. 2021.
PMID: 34546337
Free PMC article.
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
Legrand A, Pujol C, Durand CM, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa AB, Renaud M, Boucher JL, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson J.
Legrand A, et al.
J Intern Med. 2021 May;289(5):709-725. doi: 10.1111/joim.13193. Epub 2021 Mar 31.
J Intern Med. 2021.
PMID: 33107650
Free article.
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Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D.
Oz-Levi D, et al.
Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.
Am J Hum Genet. 2012.
PMID: 23176824
Free PMC article.
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Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G.
Tesson C, et al.
Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.
Am J Hum Genet. 2012.
PMID: 23176821
Free PMC article.
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CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids.
Chuang SS, Helvig C, Taimi M, Ramshaw HA, Collop AH, Amad M, White JA, Petkovich M, Jones G, Korczak B.
Chuang SS, et al.
J Biol Chem. 2004 Feb 20;279(8):6305-14. doi: 10.1074/jbc.M311830200. Epub 2003 Dec 3.
J Biol Chem. 2004.
PMID: 14660610
Free article.
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