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

Lindberg, R L; Porcher, C; Grandchamp, B; Ledermann, B; Bürki, K; Brandner, S; Aguzzi, A; Meyer, U A

Lindberg, R L; Porcher, C; Grandchamp, B; Ledermann, B; Bürki, K; Brandner, S; Aguzzi, A; Meyer, U A.

Affiliation

Lindberg RL; Department of Pharmacology, University of Basel, Switzerland.

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

Article in En | MEDLINE | ID: mdl-8563760

Subject(s)

Nervous System Diseases/etiology; Porphyria, Acute Intermittent; Porphyria, Acute Intermittent/metabolism; Aminolevulinic Acid/urine; Animals; Atrophy; Axons/pathology; Base Sequence; Chimera; Disease Models, Animal; Female; Gene Targeting; Humans; Hydroxymethylbilane Synthase/genetics; Kidney/drug effects; Liver/chemistry; Male; Mice; Molecular Sequence Data; Motor Activity; Muscle, Skeletal/pathology; Nervous System Diseases/enzymology; Nervous System Diseases/genetics; Nervous System Diseases/pathology; Phenobarbital/pharmacology; Porphyria, Acute Intermittent/enzymology; Porphyria, Acute Intermittent/genetics; Porphyria, Acute Intermittent/pathology; RNA, Messenger/analysis

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Collection: 01-internacional Database: MEDLINE Main subject: Porphyria, Acute Intermittent / Nervous System Diseases Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 1996 Type: Article Affiliation country: Switzerland

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