Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function
Sign Up to like & getrecommendations! Published in 2022 at "FEBS Open Bio"
DOI: 10.1002/2211-5463.13490
Abstract: Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1‐hydroxymethylbilane (HMB). In this process, HMBS binds four consecutive substrate molecules, creating the enzyme‐intermediate complexes ES,… read more here.
Keywords: intermittent porphyria; hydroxymethylbilane synthase; acute intermittent; hydroxymethylbilane ... See more keywords
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0163-6
Abstract: Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half-normal activity of hydroxymethylbilane synthase (HMBS), is characterized by acute neurovisceral attacks that are precipitated by factors that induce heme biosynthesis. Molecular diagnosis is… read more here.
Keywords: identification; hydroxymethylbilane synthase; acute intermittent; intermittent porphyria ... See more keywords
Computational disease model of phenobarbital-induced acute attacks in an acute intermittent porphyria mouse model.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.12.009
Abstract: INTRODUCTION Acute intermittent porphyria (AIP) is characterized by hepatic over-production of the heme precursors when aminolevulinic acid (ALA)-synthase 1 is induced by endogenous or environmental factors. The aim of this study was to develop a… read more here.
Keywords: acute intermittent; intermittent porphyria; disease model; acute attacks ... See more keywords
Systemic messenger RNA as an etiological treatment for acute intermittent porphyria
Sign Up to like & getrecommendations! Published in 2018 at "Nature Medicine"
DOI: 10.1038/s41591-018-0199-z
Abstract: Acute intermittent porphyria (AIP) results from haploinsufficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis pathway. Patients with AIP have neurovisceral attacks associated with increased hepatic heme demand. Phenobarbital-challenged mice with AIP… read more here.
Keywords: systemic messenger; acute intermittent; intermittent porphyria; hpbgd mrna ... See more keywords
Acute intermittent porphyria: a test of clinical acumen
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Community Hospital Internal Medicine Perspectives"
DOI: 10.1080/20009666.2017.1317535
Abstract: ABSTRACT Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is… read more here.
Keywords: porphyria test; acute intermittent; intermittent porphyria; test clinical ... See more keywords
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria
Sign Up to like & getrecommendations! Published in 2018 at "Human Gene Therapy"
DOI: 10.1089/hum.2017.056
Abstract: Porphobilinogen deaminase (PBGD) gene therapy represents a promising therapeutic option for acute intermittent porphyria (AIP) patients suffering recurrent acute attacks. A first-in-human Phase I clinical trial confirmed the safety and tolerability of adeno-associated virus (AAV)-AAT-PBGD… read more here.
Keywords: acute intermittent; gene therapy; porphyria; promoter ... See more keywords
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz003
Abstract: Acute intermittent porphyria (AIP) is an inborn error of heme biosynthesis due to the deficiency of hydroxymethylbilane synthase (HMBS) activity. Human AIP heterozygotes have episodic acute neurovisceral attacks that typically start after puberty, whereas patients… read more here.
Keywords: hydroxymethylbilane synthase; homozygous dominant; knock mice; acute intermittent ... See more keywords
A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family
Sign Up to like & getrecommendations! Published in 2018 at "Medicine"
DOI: 10.1097/md.0000000000012295
Abstract: Rationale: Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation. Patient concerns: A Chinese female patient with very typical AIP symptoms of severe abdominal pain, seizures, hypertension, and tachycardia, accompanied with hyponatremia,… read more here.
Keywords: hydroxymethylbilane synthase; acute intermittent; intermittent porphyria; family ... See more keywords
Acute intermittent hemodialysis management in childhood: A single center experience
Sign Up to like & getrecommendations! Published in 2022 at "Therapeutic Apheresis and Dialysis"
DOI: 10.1111/1744-9987.13854
Abstract: The objective of this study was to determine the common indications of acute intermittent hemodialysis (IHD) treatment in childhood and to assess the characteristics of the procedure, complications, and prognosis. read more here.
Keywords: management childhood; acute intermittent; intermittent hemodialysis; hemodialysis management ... See more keywords
The effect of acute intermittent hypoxia on human limb motoneurone output
Sign Up to like & getrecommendations! Published in 2022 at "Experimental Physiology"
DOI: 10.1113/ep090099
Abstract: What is the central question of this study? Does a single session of repeated bouts of acute intermittent hypoxic breathing enhance the motoneuronal output of the limb muscles of healthy able‐bodied participants? What is the… read more here.
Keywords: limb; effect acute; output; intermittent hypoxia ... See more keywords
Recombinant porphobilinogen deaminase targeted to the liver corrects enzymopenia in a mouse model of acute intermittent porphyria
Sign Up to like & getrecommendations! Published in 2022 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.abc0700
Abstract: Description Systemic and subcutaneous rApoAI-PBGD therapy protects against porphyrin precursor accumulation, pain, and motor neuropathy in AIP mice. Apoliprotein for enzyme deLIVERing Acute intermittent porphyria (AIP) is a metabolic disorder caused by loss-of-function mutations in… read more here.
Keywords: aip; acute intermittent; pbgd; mouse model ... See more keywords