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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Biotinidase

biotinidase, BTD
Biotinidase functions to recycle biotin in the body by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. Biotinidase has also been shown to have biotinyl-transferase activity. Defects in the biotinidase gene cause multiple carboxylase deficiency. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, ACID, AGE, fibrillin-1
Papers on biotinidase
Synthesis and pharmacology of mono-, di- and trialkyl-substituted 7-chloro-3,4-dihydro-2H-1,2,4-benzothiadiazine 1,1-dioxides combined with X-ray structure analysis to understand the unexpected structure-activity relationship at AMPA receptors.
New
Kastrup et al., In Acs Chem Neurosci, Feb 2016
The methyl substituent in the 3-position directs the binding mode of the 1,2,4-benzothiadiazine 1,1-dioxide (BTD) scaffold.
Metal-free organic dyes for TiO2 and ZnO dye-sensitized solar cells.
New
Diau et al., Brescia, Italy. In Sci Rep, Dec 2015
We report the synthesis and characterization of new metal-free organic dyes (namely B18, BTD-R, and CPTD-R) which designed with D-π-A concept to extending the light absorption region by strong conjugation group of π-linker part and applied as light harvester in dye sensitized solar cells (DSSCs).
Biotin-dependent functions in adiposity: a study of monozygotic twin pairs.
New
Pietiläinen et al., Helsinki, Finland. In Int J Obes (lond), Dec 2015
In AT, HLCS and ACACB were hypermethylated and biotin cycle genes HLCS and BTD were downregulated (P<0.05).
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
New
Souid et al., Al `Ayn, United Arab Emirates. In Jimd Rep, Dec 2015
The BTD mutations c.1207T>G (found in citizens) and c.424C>A (found in Somalians) were associated with undetectable biotinidase activity.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
New
Rupar et al., London, Canada. In Mol Genet Metab, Nov 2015
Untreated profound biotinidase deficiency results in a wide range of clinical features, including optic atrophy, cutaneous abnormalities, hearing loss and developmental delay.
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Review
New
Wolf, Detroit, United States. In Mol Genet Metab, Nov 2015
Multiple symptomatic children with biotinidase deficiency have exhibited spastic para- or tetraplegia due to myelopathy with and without vision loss.
Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples.
New
Takáts et al., Budapest, Hungary. In Anal Chem, Nov 2015
Biotinidase activity assay is included in most newborn screening protocols, and the positive results are confirmed by quantitative enzyme activity measurements.
Biotinidase deficiency and our champagne legacy.
Review
New
Wolf, Detroit, United States. In Gene, Nov 2015
UNASSIGNED: Biotinidase is the enzyme that is necessary for the recycling of the vitamin, biotin.
Nuclear Gene-Encoded Leigh Syndrome Overview
Review
New
Thorburn et al., Seattle, United States. In Unknown Journal, Nov 2015
MANAGEMENT: Treatment of manifestations: Specific treatment is possible for the three nuclear gene-encoded Leigh-like syndromes: biotin-thiamine-responsive basal ganglia disease (BTBGD), biotinidase deficiency, and coenzyme Q10 deficiency caused by mutation of PDSS2.
Newborn Screening: What Does the Emergency Physician Need to Know?
Review
New
Abramo et al., Nashville, United States. In Pediatr Emerg Care, Sep 2015
Historically, the most commonly screened disorders are the following: congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease and associated hemoglobinopathies, biotinidase deficiency, galactosemia, cystic fibrosis and phenylketonuria, maple syrup urine disease, and homocystinuria.
Austrian Newborn Screening Program: a perspective of five decades.
Review
Kasper et al., In J Perinat Med, 2014
This health-preventive program was continuously expanded from phenylketonuria and galactosemia to congenital hypothyroidism, biotinidase deficiency, cystic fibrosis, and congenital adrenal hyperplasia.
Genome-wide association study of bipolar I disorder in the Han Chinese population.
GeneRIF
Cheng et al., Taipei, Taiwan. In Mol Psychiatry, 2011
This study provided that SP8 are associated with Bipolar I in the Han Chinese population
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
GeneRIF
Dodelson de Kremer et al., Córdoba, Argentina. In J Inherit Metab Dis, 2010
Plasma BTD activity increases in hepatic glycogen storage disease patients.
Analysis of mutations causing biotinidase deficiency.
GeneRIF
Wolf et al., Detroit, United States. In Hum Mutat, 2010
140 known mutations in the biotinidase gene (BTD) that cause biotinidase deficiency, are reported.
Technical standards and guidelines for the diagnosis of biotinidase deficiency.
GeneRIF
Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee et al., Stanford, United States. In Genet Med, 2010
Mutations in biotinidase is associated with biotinidase deficiency.
Non-redundant selector and growth-promoting functions of two sister genes, buttonhead and Sp1, in Drosophila leg development.
GeneRIF
Mann et al., New York City, United States. In Plos Genet, 2010
By simultaneously removing the function of two Sp8 orthologs, buttonhead (btd) and Sp1, during Drosophila embryogenesis, we find that adult leg development is completely abolished.
Phenotypic suppression of empty spiracles is prevented by buttonhead.
Impact
Jäckle et al., Göttingen, Germany. In Nature, 2000
Unlike the trunk segments, the anterior head segments of Drosophila are formed in the absence of pair-rule and HOX-cluster gene expression, by the activities of the gap-like genes orthodenticle (otd), empty spiracles (ems) and buttonhead (btd).
Vanin-1, a novel GPI-linked perivascular molecule involved in thymus homing.
Impact
Naquet et al., Marseille, France. In Immunity, 1996
The Vanin-1 gene codes for a GPI-anchored 70 kDa protein that shows homology only with human biotinidase.
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
Impact
Wolf et al., Richmond, United States. In Nat Genet, 1995
Biotinidase deficiency is an autosomal recessive inherited disorder that is characterized by neurological and cutaneous symptoms.
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.
Impact
Weissbecker et al., In N Engl J Med, 1985
Four children with biotinidase deficiency were identified during the first year of a neonatal screening program for this disease in the Commonwealth of Virginia.
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