Hydroxymethylbilane synthase - Open Access .click

Results 141 to 150 of about 256,046 (232)

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Neuropsychiatric Disease and Treatment, 2014
Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine,
Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H +3 more
doaj

Investigation of putative active-site lysine residues in hydroxymethylbilane synthase. Preparation and characterization of mutants in which (a) Lys-55, (b) Lys-59 and (c) both Lys-55 and Lys-59 have been replaced by glutamine [PDF]

, 1990
Alfons Hädener +4 more
openalex +1 more source

AROS Is a Significant Biomarker for Tumor Aggressiveness in Non-cirrhotic Hepatocellular Carcinoma [PDF]

Despite a low risk of liver failure and preserved liver function, non-cirrhotic hepatocellular carcinoma (HCC) has a poor prognosis. In the current study, we evaluated an active regulator of SIRT1 (AROS) as a prognostic biomarker in non-cirrhotic HCC ...
Ahn, KS +9 more
core +1 more source

FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction

Human Genomics
Systematically predicting the effects of mutations on protein fitness is essential for the understanding of genetic diseases. Indeed, predictions complement experimental efforts in analyzing how variants lead to dysfunctional proteins that in turn can ...
Matsvei Tsishyn +5 more
doaj +1 more source

Acute intermittent porphyria in a resource-limited setting: diagnostic pitfalls and emerging therapeutic perspectives

Journal of Rare Diseases
Background Acute intermittent porphyria (AIP) is a rare metabolic disorder caused by deficiency of hydroxymethylbilane synthase (HMBS), leading to accumulation of neurotoxic heme precursors. Its protean neurovisceral manifestations and the possibility of
Bhupender Arya +4 more
doaj +1 more source

Growth Stimulation of Biological Cells and Tissue by Electromagnetic Fields and Uses Thereof [PDF]

The present invention provides systems for growing two or three dimensional mammalian cells within a culture medium facilitated by an electromagnetic field, and preferably, a time varying electromagnetic field. The cells, and culture medium are contained
Goodwin, Thomas J., Wolf, David A.
core +1 more source

Evidence that the pyrromethane cofactor of hydroxymethylbilane synthase (porphobilinogen deaminase) is bound through the sulphur atom of a cysteine residue [PDF]