Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function
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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
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.10.008
Abstract: The acute hepatic porphyrias (AHPs) are inborn errors of heme biosynthesis, which include three autosomal dominant porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), and Variegate Porphyria (VP), and the ultra-rare autosomal recessive porphyria, δ-Aminolevulinic… read more here.
Keywords: hydroxymethylbilane synthase; oxidase; acute hepatic; hepatic porphyrias ... 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.
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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