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English Journal

Safety and liver transduction efficacy of rAAV5-cohPBGD in non-human primates: A potential therapy for Acute Intermitent Porphyria.

Pañeda MA, Lopez-Franco E, Kaeppel C, Unzu C, Gil-Royo AG, D'Avola D, Beattie SG, Olague C, Ferrero R, Sampedro A, Mauleon I, Hermening S, Salmon F, Benito A, Gavira JJ, Cornet ME, Municio MD, von Kalle C, Petry H, Prieto J, Schmidt M, Fontanellas A, Gonzalez-Aseguinolaza G.SourceDIGNA BIOTECH, Scientific, Avd Pio XII, 22 office 2, Pamplona, Spain, 28060, Center for Applied Medical Research (CIMA)/Foundation for Applied Medical Research (FIMA) , Gene therapy and Hepatology, Pamplona, Spain ; apaneda@dignabiotech.com.
Human gene therapy.Hum Gene Ther.2013 Sep 26. [Epub ahead of print]
Acute Intermittent Porphyria (AIP) results from haplo-insufficient activity of porphobilinogen deaminase (PBGD) and is characterized clinically by life-threatening, acute neurovisceral attacks. To date, liver transplantation is the only curative option for AIP. The aim of the present preclinical non
PMID 24070415

The Stimulation of Adenosine A2A Receptors Ameliorates the Pathological Phenotype of Fibroblasts from Niemann-Pick Type C Patients.

Visentin S, De Nuccio C, Bernardo A, Pepponi R, Ferrante A, Minghetti L, Popoli P.SourceDepartment of Cell Biology and Neuroscience, and Department of Therapeutic Research and Medicines Evaluation, Istituto Superiore di Sanità, 00161 Rome, Italy.
The Journal of neuroscience : the official journal of the Society for Neuroscience.J Neurosci.2013 Sep 25;33(39):15388-93. doi: 10.1523/JNEUROSCI.0558-13.2013.
Niemann-Pick type C1 (NPC1) disease is a rare neurovisceral disorder characterized by intracellular accumulation of unesterified cholesterol, sphingolipids, and other lipids in the lysosomal compartment. A deregulation of lysosomal calcium has been identified as one of the earliest steps of the dege
PMID 24068806

Maubert A, Hanon C, Metton JP.SourceEPS Erasme, 143, avenue Armand-Guillebaud, BP 50085, 92161 Antony cedex, France. Electronic address: alice.maubert@gmail.com.
L'Encephale.Encephale.2013 Aug 5. pii: S0013-7006(13)00117-6. doi: 10.1016/j.encep.2013.04.013. [Epub ahead of print]
INTRODUCTION: Niemann-Pick type C disease (NPC) is a rare hereditary disease, which psychiatrists do not face often in France. Indeed, only a couple of articles specifically describing the psychiatric-disorders in the adult form have been published. And for the most part, they were not written by ps
PMID 23928063

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient

Recent progress in development of transgenic silkworms overexpressing recombinant human proteins with therapeutic potential in silk glands

ACID SPHINGOMYELINASE IS ESSENTIAL FOR CHOLESTEROL-REDUCING AGENTS TO POSITIVELY AFFECT ACCUMULATED FREE CHOLESTEROL IN NIEMANN-PICK DISEASE TYPE C FIBROBLASTS