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Items: 1 to 20 of 117

1.

Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria.

Yin Z, Wahlin S, Ellis EC, Harper P, Ericzon BG, Nowak G.

Cell Transplant. 2014;23(9):1153-62. doi: 10.3727/096368913X666980.

PMID:
23582197
3.

Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.

Unzu C, Sampedro A, Mauleón I, Vanrell L, Dubrot J, de Salamanca RE, González-Aseguinolaza G, Melero I, Prieto J, Fontanellas A.

J Hepatol. 2010 Mar;52(3):417-24. doi: 10.1016/j.jhep.2009.09.003. Epub 2009 Sep 23.

PMID:
19815305
4.
5.

Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.

Johansson A, Möller C, Harper P.

Mol Cell Biochem. 2003 Aug;250(1-2):65-71.

PMID:
12962144
6.

Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse.

Unzu C, Sampedro A, Sardh E, Mauleón I, Enríquez de Salamanca R, Prieto J, Salido E, Harper P, Fontanellas A.

PLoS One. 2012;7(3):e32978. doi: 10.1371/journal.pone.0032978. Epub 2012 Mar 6.

7.

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.

Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ.

Mol Med. 2015 Jun 5;21:487-95. doi: 10.2119/molmed.2015.00099.

8.

Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice.

Unzu C, Sampedro A, Mauleón I, González-Aparicio M, Enríquez de Salamanca R, Prieto J, Aragón T, Fontanellas A.

Hum Mol Genet. 2013 Jul 15;22(14):2929-40. doi: 10.1093/hmg/ddt148. Epub 2013 Apr 5.

9.

Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria.

Johansson A, Nowak G, Möller C, Harper P.

Mol Genet Metab. 2004 May;82(1):20-6.

PMID:
15110317
10.

Circadian rhythms in acute intermittent porphyria--a pilot study.

Larion S, Caballes FR, Hwang SI, Lee JG, Rossman WE, Parsons J, Steuerwald N, Li T, Maddukuri V, Groseclose G, Finkielstein CV, Bonkovsky HL.

Eur J Clin Invest. 2013 Jul;43(7):727-39. doi: 10.1111/eci.12102. Epub 2013 May 8.

12.

Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria.

Lindberg RL, Porcher C, Grandchamp B, Ledermann B, Bürki K, Brandner S, Aguzzi A, Meyer UA.

Nat Genet. 1996 Feb;12(2):195-9.

PMID:
8563760
13.

Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria.

Grünberg-Etkovitz N, Greenbaum L, Grinblat B, Malik Z.

Biochim Biophys Acta. 2006 Sep;1762(9):819-27. Epub 2006 Jul 22.

14.
15.

Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria.

D'Avola D, López-Franco E, Sangro B, Pañeda A, Grossios N, Gil-Farina I, Benito A, Twisk J, Paz M, Ruiz J, Schmidt M, Petry H, Harper P, de Salamanca RE, Fontanellas A, Prieto J, González-Aseguinolaza G.

J Hepatol. 2016 May 17. pii: S0168-8278(16)30198-2. doi: 10.1016/j.jhep.2016.05.012. [Epub ahead of print]

16.

Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.

Szlendak U, Lipniacka A, Bianketti J, Podolak-Dawidziak M, Bykowska K.

Adv Clin Exp Med. 2015 Jan-Feb;24(1):63-8. doi: 10.17219/acem/34555.

17.

Non-viral mediated gene transfer of porphobilinogen deaminase into mammalian cells.

Johansson A, Möller C, Gellerfors P, Harper P.

Scand J Clin Lab Invest. 2002;62(2):105-13.

PMID:
12004925
18.

Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria.

Lindberg RL, Martini R, Baumgartner M, Erne B, Borg J, Zielasek J, Ricker K, Steck A, Toyka KV, Meyer UA.

J Clin Invest. 1999 Apr;103(8):1127-34.

19.

Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.

Mustajoki S, Laine M, Lahtela M, Mustajoki P, Peltonen L, Kauppinen R.

Mol Med. 2000 Aug;6(8):670-9.

20.

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ.

Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24.

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