Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
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منابع مشابه
Biallelic TOR1A variants in an infant with severe arthrogryposis
DYT1 early-onset primary dystonia (DYT1) is a well-described dystonia caused by an in-frame GAG nucleotide deletion in the TOR1A gene, c.907_909delGAG. The only phenotype linked to TOR1A is dystonia. Homozygous GAG deletions or compound heterozygosity for mutations in TOR1A have never been reported in humans. Arthrogryposis, defined as multiple congenital contractures, affects 1 in 3,000–5,000 ...
متن کاملBiallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders. To identify retinal-disease-associated genes, we performed exome sequencing in 28 individuals with "cone-first" retinal disease and clinical features atypi...
متن کاملFerroxidase activity of rat ceruloplasmin.
WILLIAMS, ID. M., G. K. LEE, AND G. E CARTWRIGIIT. Fb-roxidasc nctivity of rat ccruloplasmin. Am. J. Physiol. 227(5) : 1094-1097. 1974.-The ferroxidase activity of rat ceruloplasmin was studied under various assay conditions. The ferroxidase activity was optimal at pH 6.0-6.2 in acetate buffer in the absence of ascorbate, and under these conditions the activity was about 1/3rd that of human cer...
متن کاملA case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity.
A 34 year old diabetic man with a complete deficiency of serum ferroxidase activity, regardless of the presence of serum ceruloplasmin (Cp), a multicopper ferroxidase protein, is described. The patient had had diabetes mellitus for 13 years, and was also found to have retinal degeneration accompanied by the development of a hearing disturbance of unknown aetiology. Laboratory examination showed...
متن کاملAutomated measurement of serum ferroxidase activity.
A method is described for automated measurement of serum ceruloplasmin ferroxidase activity. In this method, Fe2+ ions are used as the substrate. In addition, a new calibration system without ceruloplasmin is also presented. Optimum assay reaction conditions were determined. Maximal catalytic activity was obtained at 0.45 mol/L acetate buffer, pH 5.8. The reagents and calibrator are stable for ...
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ژورنال
عنوان ژورنال: PLOS Genetics
سال: 2019
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1008143