Matches in SemOpenAlex for { <https://semopenalex.org/work/W4309008565> ?p ?o ?g. }
- W4309008565 endingPage "1858" @default.
- W4309008565 startingPage "1858" @default.
- W4309008565 abstract "Rare diseases, especially monogenic diseases, which usually affect a single target protein, have attracted growing interest in drug research by encouraging pharmaceutical companies to design and develop therapeutic products to be tested in the clinical arena. Acute intermittent porphyria (AIP) is one of these rare diseases. AIP is characterized by haploinsufficiency in the third enzyme of the heme biosynthesis pathway. Identification of the liver as the target organ and a detailed molecular characterization have enabled the development and approval of several therapies to manage this disease, such as glucose infusions, heme replenishment, and, more recently, an siRNA strategy that aims to down-regulate the key limiting enzyme of heme synthesis. Given the involvement of hepatic hemoproteins in essential metabolic functions, important questions regarding energy supply, antioxidant and detoxifying responses, and glucose homeostasis remain to be elucidated. This review reports recent insights into the pathogenesis of acute attacks and provides an update on emerging treatments aimed at increasing the activity of the deficient enzyme in the liver and restoring the physiological regulation of the pathway. While further studies are needed to optimize gene therapy vectors or large-scale production of liver-targeted PBGD proteins, effective protection of PBGD mRNA against the acute attacks has already been successfully confirmed in mice and large animals, and mRNA transfer technology is being tested in several clinical trials for metabolic diseases." @default.
- W4309008565 created "2022-11-20" @default.
- W4309008565 creator A5016683081 @default.
- W4309008565 creator A5023669490 @default.
- W4309008565 creator A5032600040 @default.
- W4309008565 creator A5043654363 @default.
- W4309008565 creator A5064978271 @default.
- W4309008565 creator A5067970576 @default.
- W4309008565 creator A5077090191 @default.
- W4309008565 creator A5077733484 @default.
- W4309008565 creator A5078622096 @default.
- W4309008565 creator A5079288330 @default.
- W4309008565 creator A5082700903 @default.
- W4309008565 date "2022-11-11" @default.
- W4309008565 modified "2023-10-17" @default.
- W4309008565 title "Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment" @default.
- W4309008565 cites W123127218 @default.
- W4309008565 cites W1830223329 @default.
- W4309008565 cites W1963890030 @default.
- W4309008565 cites W1982859631 @default.
- W4309008565 cites W1997017398 @default.
- W4309008565 cites W2000731919 @default.
- W4309008565 cites W2024005016 @default.
- W4309008565 cites W2024285392 @default.
- W4309008565 cites W2026075987 @default.
- W4309008565 cites W2031067362 @default.
- W4309008565 cites W2040333690 @default.
- W4309008565 cites W2044487970 @default.
- W4309008565 cites W2059924653 @default.
- W4309008565 cites W2069360361 @default.
- W4309008565 cites W2071533459 @default.
- W4309008565 cites W2075944998 @default.
- W4309008565 cites W2082074707 @default.
- W4309008565 cites W2096015587 @default.
- W4309008565 cites W2102339251 @default.
- W4309008565 cites W2108314723 @default.
- W4309008565 cites W2151417342 @default.
- W4309008565 cites W2156152832 @default.
- W4309008565 cites W2159500294 @default.
- W4309008565 cites W2168169314 @default.
- W4309008565 cites W2214097311 @default.
- W4309008565 cites W2254113155 @default.
- W4309008565 cites W2307721485 @default.
- W4309008565 cites W2398306036 @default.
- W4309008565 cites W2463444282 @default.
- W4309008565 cites W2507658028 @default.
- W4309008565 cites W2562225798 @default.
- W4309008565 cites W2564053957 @default.
- W4309008565 cites W2575425373 @default.
- W4309008565 cites W2761959685 @default.
- W4309008565 cites W2789537523 @default.
- W4309008565 cites W2790744750 @default.
- W4309008565 cites W2791854174 @default.
- W4309008565 cites W2801321266 @default.
- W4309008565 cites W2886123580 @default.
- W4309008565 cites W2895539268 @default.
- W4309008565 cites W2896051729 @default.
- W4309008565 cites W2906077494 @default.
- W4309008565 cites W2910037810 @default.
- W4309008565 cites W2910362802 @default.
- W4309008565 cites W2914045430 @default.
- W4309008565 cites W2917655435 @default.
- W4309008565 cites W2922125249 @default.
- W4309008565 cites W2925213212 @default.
- W4309008565 cites W2941380178 @default.
- W4309008565 cites W2944055400 @default.
- W4309008565 cites W2952116753 @default.
- W4309008565 cites W2952719558 @default.
- W4309008565 cites W2972591640 @default.
- W4309008565 cites W2983242022 @default.
- W4309008565 cites W3033201788 @default.
- W4309008565 cites W3083348055 @default.
- W4309008565 cites W3086527328 @default.
- W4309008565 cites W3106643515 @default.
- W4309008565 cites W3119368501 @default.
- W4309008565 cites W3130643656 @default.
- W4309008565 cites W3133844898 @default.
- W4309008565 cites W3135309807 @default.
- W4309008565 cites W3148832547 @default.
- W4309008565 cites W3153865734 @default.
- W4309008565 cites W3155198360 @default.
- W4309008565 cites W3160048439 @default.
- W4309008565 cites W3172985152 @default.
- W4309008565 cites W3199405969 @default.
- W4309008565 cites W4205428477 @default.
- W4309008565 cites W4210410832 @default.
- W4309008565 cites W4210973172 @default.
- W4309008565 cites W4253599714 @default.
- W4309008565 cites W4281742508 @default.
- W4309008565 cites W4283798313 @default.
- W4309008565 cites W4283807472 @default.
- W4309008565 cites W4285252568 @default.
- W4309008565 cites W4289936729 @default.
- W4309008565 doi "https://doi.org/10.3390/life12111858" @default.
- W4309008565 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36430993" @default.
- W4309008565 hasPublicationYear "2022" @default.
- W4309008565 type Work @default.
- W4309008565 citedByCount "1" @default.